Results 61 to 70 of about 1,063,886 (319)

Effective Technique Using Combined CO2 Laser and Pulsed Dye Laser for Facial Angiofibromas Management in Tuberous Sclerosis

Case Reports in Dermatological Medicine
Background. Facial angiofibromas (FAs) are a dermatological characteristic which are typically linked to tuberous sclerosis (TS). Aim. We discuss our experience, highlighting a rare occurrence of multiple FAs in a young patient, successfully treated with
Giuseppe Lodi, Giovanni Cannarozzo, Irene Fusco, Tiziano Zingoni, Elena Campione, Mario Sannino   +5 more
doaj   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

Nanowire Lasers

Nanophotonics, 2015
Abstract:We review principles and trends in the use of semiconductor nanowires as gain media for stimulated emission and lasing. Semiconductor nanowires have recently been widely studied for use in integrated optoelectronic devices, such as light-emitting diodes (LEDs), solar cells, and transistors. Intensive research has also been conducted in the use
Couteau, Christophe, Larrue, Alexandre, Wilhelm, Christophe, Soci, Cesare   +3 more
openaire   +5 more sources

Time‐Frequency Fingerprint Analysis in SEEG Source‐Space to Identify the Epileptogenic Zone

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This case study highlights the application of seizure fingerprint analysis in the source‐space of stereo‐EEG (SEEG) data to accurately localize the epileptogenic zone (EZ) in patients with complex cortical malformations. A 25‐year‐old female with extensive bilateral perisylvian polymicrogyria (PMG) presented with intractable focal seizures ...
Yash Shashank Vakilna, Deniz Atilgan, Johnson Hampson, Chinmay Chinara, Takfarinas Medani, Richard M. Leahy, Nuria Lacuey, Samden D. Lhatoo, Sandipan Pati, John C. Mosher, Jay R. Gavvala   +10 more
wiley   +1 more source

Identification of Dementia With Lewy Bodies by Skin Biopsy in Recent‐Onset Cognitive Impairment

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Immunofluorescence for phosphorylated alpha‐synuclein in skin biopsy samples is an emerging biomarker in synucleinopathies comprising Dementia with Lewy bodies. In this pilot study, 19 patients with recent‐onset (≤ 18 months) cognitive impairment underwent skin biopsy at baseline, with follow‐up clinical re‐evaluation.
Alessandro Furia, Alex Incensi, Cecilia Delprete, Giovanni Rizzo, Salvatore Bonvegna, Marco Piatti, Enrica Olivola, Francesco Ventruto, Veria Vacchiano, Enrico Fileccia, Roberto Cilia, Nicola Modugno, Rocco Liguori, Vincenzo Donadio   +13 more
wiley   +1 more source

Durable B‐Cell Impairment While Sparing IgA B Cells After Ocrelizumab Therapy in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Ocrelizumab (OCR), a humanized anti‐CD20 monoclonal antibody, is highly efficient in relapsing–remitting multiple sclerosis (RR‐MS). We assessed early cellular B‐cell profiles in patients prior to OCR treatment, on OCR treatment, and after 15 months of therapy discontinuation.
Alexandra Garcia, Stephane Rodriguez, Emilie Dugast, Christine Lebrun‐Frenay, Eric Thouvenot, Jérôme de Sèze, Emmanuelle Le Page, Sandra Vukusic, Inès Doghri, Eric Berger, Olivier Casez, Pierre Labauge, Aurélie Ruet, Catarina Raposo, Fabienne Le Frère, Arnaud B. Nicot, Sandrine Wiertlewski, Pierre‐Antoine Gourraud, Laure Michel, Laureline Berthelot, David‐Axel Laplaud   +20 more
wiley   +1 more source

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4. Methods We evaluated the clinical phenotype and muscle imaging, and performed a genetic workup that included exome sequencing, muscle RNAseq, and long‐read genome ...
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
wiley   +1 more source

Observation of quantum criticality of a four-dimensional phase transition

Nature Communications
Understanding how a system’s behavior extrapolates beyond 3D is a fundamental question in physics, spanning topics from unification theories to critical phenomena.
Farid Madani, Maxime Denis, Pascal Szriftgiser, Jean-Claude Garreau, Adam Rançon, Radu Chicireanu   +5 more
doaj   +1 more source

Hyperoxia Induced Alteration of Chromatin Structure in Human Bone Marrow Derived Primary Mesenchymal Stromal Cells

Advanced Biology, EarlyView.
Chromatin, which organizes DNA, changes its structure to adapt to stress like high oxygen levels (hyperoxia), which can damage cells. Researchers developed a technique to observe these changes and found variability in how different parts of chromatin remodel.
Lauren Monroe, Samantha Kaonis, Natalie Calahan, Neda Kabi, Soham Ghosh   +4 more
wiley   +1 more source

Activation of NF‐κB Signaling by Optogenetic Clustering of IKKα and β

Advanced Biology, EarlyView.
This study presents an optogenetic approach for graded clustering of eGFP‐fused proteins using an eGFP‐specific nanobody and engineered Cryptochrome 2 variants. The method enables potent, reversible activation of NF‐κB signaling via endogenous pathways, as confirmed by RNA sequencing. This versatile system provides a spatially and temporally controlled
Alexandra Anna Maria Fischer, Markus Michael Kramer, Miguel Baños, Merlin Moritz Grimm, Manfred Fliegauf, Bodo Grimbacher, Gerald Radziwill, Sven Rahmann, Wilfried Weber   +8 more
wiley   +1 more source