Results 171 to 180 of about 284,386 (244)

Bartonella quintana endocarditis presenting with severe coombs-positive anemia: a case report. [PDF]

BMC Cardiovasc Disord
Zhang Y, Wangjia P, Yang S, Liu P, Xu X, Han H.   +5 more
europepmc   +1 more source

When serious becomes critical

Journal of Hospital Medicine, EarlyView.
Yohei Masuda
wiley   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Revolutionizing endocarditis diagnosis: AI meets metagenomics for rare <i>Bartonella</i> detection. [PDF]

Ann Med Surg (Lond)
Muhammad Abdur Rehman A, Rizwan MH, Khalid M, Talha M, Waafira A.   +4 more
europepmc   +1 more source

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

An optimized 16S-23S rRNA intergenic spacer region PCR for the detection and identification of <i>Bartonella</i> spp. [PDF]

Microbiol Spectr
Dichter AA, Kaufmann R, Cayo LS, Tsukayama P, Kempf VAJ.   +4 more
europepmc   +1 more source

Severe Scrotal Cellulitis in a Young Man

JEADV Clinical Practice, EarlyView.
Hamad El Hajj, Vera Al Baaklini, Dima Jeha, Alfred Ammoury   +3 more
wiley   +1 more source

Emergencies in Amyotrophic Lateral Sclerosis

Muscle &Nerve, EarlyView.
ABSTRACT Emergencies are frequent in people living with amyotrophic lateral sclerosis (pALS), especially as the disease progresses, and can necessitate urgent evaluation and intervention. Progressive weakness in ALS inevitably increases fall risk, making discussion of fall prevention strategies integral to caring for pALS.
S. Pinar Uysal, Katherine A. Dudley, Stacey Sullivan, Kate T. Brizzi, Katherine M. Burke, Sydney Hall, Kiersten Pease, Joshua N. Goldstein, James D. Berry, Doreen T. Ho   +9 more
wiley   +1 more source

Tropical infectious diseases and skin manifestations: a diagnostic framework. [PDF]

Curr Opin Infect Dis
Cologgi G, Giurco M, Donadoni R, Sepulcri C, Bassetti M.   +4 more
europepmc   +1 more source