Results 111 to 120 of about 5,769,599 (338)

Complex regional pain syndrome in a competitive athlete and regional osteoporosis assessed by dual-energy X-ray absorptiometry: a case report. [PDF]

, 2014
Dual-energy X-ray absorptiometry is rarely utilized in the clinical care of patients with complex regional pain syndrome, but may be useful for the non-invasive determination of regional bone fragility and fracture risk, as well as muscular atrophy and ...
Hind, K, Johnson, MI
core   +2 more sources

NMR screening of low molecular weight inhibitors targeting the papain‐like protease (PLPro) of SARS‐CoV‐2

FEBS Open Bio, EarlyView.
Papain‐like protease from SARS‐CoV‐2 plays an important role in the cleavage of the viral polyproteins and in the suppression of the host's immune response. Here, we present the results of an NMR screening study. We identified 86 binding compounds, of which five candidates were chosen for in‐depth analysis.
Dennis J. Pyper, Sridhar Sreeramulu, Benjamin T. Lanham, Elizabeth M. Engle, David Fushman, Harald Schwalbe   +5 more
wiley   +1 more source

Changes in adenosine 5'-monophosphate-activated protein kinase as a mechanism of visceral obesity in Cushing's syndrome [PDF]

, 2008
OBJECTIVE: Features of the metabolic syndrome such as central obesity with insulin resistance and dyslipidemia are typical signs of Cushing's syndrome and common side effects of prolonged glucocorticoid treatment.
Blerina Kola, Mirjam Christ-Crain, Francesca Lolli, Giorgio Arnaldi, Gilberta Giacchetti, Marco Boscaro, Ashley B. Grossman, Márta Korbonits, Kola, Gudbjornsson, van Staa, Walsh, Arnaldi, Mayo-Smith, Kahn, Christ-Crain, Tataranni, Steinberg, Hojlund, Bandyopadhyay, Kola, Hawley, Terzolo, Mantero, Barzon, Bujalska, Seckl, Daval, Wang, Vander Kooi, Shaw, Clark   +31 more
core   +1 more source

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite
Fei Gao, Katherine R Schon, Jana Vandrovcova, Özlem Yayıcı Köken, Sharika Raga, Kireshnee Naidu, Maryke Schoonen, Nimita Rani, Pedro Tomaselli, Dipti Baskar, Musambo Kapapa, Ipek Polat, Lindsay A Wilson, Kumarasamy Thangaraj, Uluç Yiş, Bevinahalli N Nandeesh, David Bearden, Michelle Kvalsund, Franclo Henning, Seena Vengalil, Atchayaram Nalini, Claudia F. R. Sobreira, Wilson Marques, Haluk Topoloğlu, Michael G Hanna, Sireesha Yareeda, Venugopalan Y Vishnu, Francois H van der Westhuizen, Izelle Smuts, Surita Meldau, Jo Wilmshurst, Büşranur Çavdarlı, Jeannine Heckmann, Patrick F Chinnery, Rita Horvath   +34 more
wiley   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome [PDF]

, 2017
Mutations in the gene encoding the ATP dependent chromatin‐remodeling factor, CHD7 are the major cause of CHARGE (Coloboma, Heart defects, Atresia of the choanae, Retarded growth and development, Genital‐urinary anomalies, and Ear defects) syndrome ...
Abadie, Admiraal, Aruga, Barkovich, Basson, Basson, Becker, Becker, Bergman, Bergman, Blank, Bock, Bouazoune, Cahill, Cheh, Cheng, Corrales, de Guzman, Desplan, Dorr, Engelen, Feng, Genovese, Gerlai, Inouye, Issekutz, Janssen, Jongmans, Jongmans, Joyner, Joyner, Joyner, Keane, Kelly, Lalani, Larsell, Layman, Legendre, Lerch, Lerch, Lin, Millen, Nieman, Nieman, Norman, Orvis, Pagon, Randall, Ross, Sanlaville, Sanlaville, Sato, Schnetz, Schnetz, Schuettengruber, Sgaier, Sillitoe, Sillitoe, Sillitoe, Spencer Noakes, Spring, Steadman, Stoodley, Stoodley, Stoodley, Sudarov, Tellier, Ullmann, Vesseur, Vissers, Whittaker, Wiener-Vacher, Yaguchi, Yu, Zentner   +74 more
core   +2 more sources

Spinal Cord Abnormalities in Early Pediatric Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Spinal cord lesions and atrophy in the cervical region are common in adult multiple sclerosis (MS) and correlate with disability. Whether similar abnormalities occur in pediatric MS patients is largely unknown. Clinical and MRI evaluations were performed in 38 pediatric MS patients and 13 healthy controls (HC).
Monica Margoni, Paola Valsasina, Paolo Preziosa, Martina Rubin, Mor Gueye, Lucia Moiola, Maria Assunta Rocca, Massimo Filippi   +7 more
wiley   +1 more source

Phenome-wide profiling identifies genotype-phenotype associations in Phelan-McDermid syndrome using family-sourced data from an international registry

Molecular Autism
Background Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder caused by 22q13 deletions that include the SHANK3 gene or pathogenic sequence variants in SHANK3.
Rui Yin, Maxime Wack, Claire Hassen-Khodja, Michael T. McDuffie, Geraldine Bliss, Elizabeth J. Horn, Cartik Kothari, Brittany McLarney, Rebecca Davis, Kristen Hanson, Megan O’Boyle, Catalina Betancur, Paul Avillach   +12 more
doaj   +1 more source

Antiphospholipid Syndrome

Journal of Investigative Dermatology, 1993
The antiphospholipid antibodies (aPL), namely, the lupus anticoagulant and the anticardiolipin antibodies, are a family of autoantibodies directed predominantly against negatively charged phospholipids. Many studies have confirmed that patients with these antibodies are prone to repeated episodes of thrombosis, fetal losses, and thrombocytopenia.
Asherson, Ronald A., Cervera, Ricard
openaire   +2 more sources

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source