Results 81 to 90 of about 175,694 (206)

Randomized preclinical study of machine perfusion in vascularized composite allografts

BJS (British Journal of Surgery), EarlyView., 2020
This study was designed to identify the optimum machine perfusion parameters for preservation of limbs before transplantation, and determine whether this was better than cold storage. Normothermic machine perfusion at a pressure of 70 mmHg (NMP‐70) provided superior preservation to cold storage after transplantation.
K. R. Amin, J. P. Stone, J. Kerr, A. Geraghty, L. Joseph, A. Montero‐Fernandez, J. K. Wong, J. E. Fildes   +7 more
wiley   +1 more source

Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy. [PDF]

Eur J Histochem, 2022
Zanotti S, Magri F, Poggetti F, Ripolone M, Velardo D, Fortunato F, Ciscato P, Moggio M, Corti S, Comi GP, Sciacco M.   +10 more
europepmc   +1 more source

Profiling Co‐Occurrent Morphological Phenotypes and Their Degree of Expression Severity in Vacuolated Cells by Holo‐Tomographic Flow Cytometry and Fractal Analysis

Advanced Intelligent Systems, EarlyView.
HTFC gets 3D refractive index tomograms of flowing cells. Label‐free monocytes are engineered to express patterns of cytoplasmic vacuoles. From the tomogram, an efficient dimensionality reduction is operated. Interpretable features are extracted to classify the expression severity of phenotypes coexisting in each cell, visually represented by a seven ...
Marika Valentino, Giusy Giugliano, Daniele Pirone, Fabrizio Licitra, Fulvia Vitale, Pasquale Memmolo, Lisa Miccio, Massimo D’Agostino, Pietro Ferraro, Vittorio Bianco   +9 more
wiley   +1 more source

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source

Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort. [PDF]

BMC Musculoskelet Disord, 2022
Yang H, Tian X, Zhang L, Li W, Liu Q, Jiang W, Peng Q, Wang G, Lu X.   +8 more
europepmc   +1 more source

Xstainer: A Novel Virtual Staining Tool Powered by Advanced Deep Learning Techniques

Advanced Intelligent Systems, EarlyView.
Xstainer is a deep learning–based virtual staining framework that converts hematoxylin and eosin‐stained whole slide images into multiple histochemical stains, including Masson's trichrome, Periodic acid‐Schiff, Jones methenamine silver, and Toluidine blue.
Fatma Nur Kinali, Derya Demir, Kutsev B. Ozyoruk, Yasin Almalioglu, Emre C. Kose, Drew F. K. Williamson, Gurdeniz Serin, G. Evren Keles, Banu S. Kumbaraci, Ceren Utku, Uguray P. Hacisalihoglu, Ilknur Turkmen, Figen Ozturk, Kayhan Basak, Yavuz Nuri Ertas, Mehmet Turan   +15 more
wiley   +1 more source

Assessing the diagnostic performance of the muscle biopsy features in the 2024 ENMC Inclusion Body Myositis Criteria. [PDF]

Rheumatology (Oxford)
Ekici M, Lilleker JB, Chinoy H.
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier, Jodi Warman‐Chardon, Danielle K. Bourque   +2 more
wiley   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source