Results 51 to 60 of about 2,308,466 (295)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Human Pegivirus Encephalitis With Brain Detection and Response to Sofosbuvir Ledipasvir

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Human pegivirus (HPgV‐1) has been associated with severe encephalomyelitis in immunocompromised patients. Its neurological spectrum remains poorly defined. We report a slowly progressive encephalitis in a person living with well‐controlled HIV, characterized by white matter abnormalities and inflammatory cerebrospinal fluid (CSF). HPgV RNA was
Antoine Moulignier, Françoise Heran, Francis Lallemand, Pierre Bourdillon   +3 more
wiley   +1 more source

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Characterization of a hepatitis C virus genotype 1 divergent isolate from an HIV-1 coinfected individual in Germany assigned to a new subtype 1o

Virology Journal, 2019
Background HCV exhibits a high genetic diversity and is classified into 7 genotypes which are further divided into 86 confirmed subtypes. However, there are multiple isolates with unassigned subtypes.
Bo Wang, Luise Krüger, Patrycja Machnowska, Amare Eshetu, Barbara Gunsenheimer-Bartmeyer, Viviane Bremer, Andrea Hauser, Norbert Bannert, C.-Thomas Bock   +8 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Integrated molecular, phenotypic and epidemiological surveillance of antimicrobial resistance in Neisseria gonorrhoeae in Germany

International Journal of Medical Microbiology
Numbers of infections with Neisseria gonorrhoeae are among the top three sexually transmitted infections (STI) worldwide. In addition, the emergence and spread of antimicrobial resistance (AMR) in Neisseria gonorrhoeae pose an important public-health ...
Kathleen Klaper, Hana Tlapák, Regina Selb, Klaus Jansen, Dagmar Heuer   +4 more
doaj   +1 more source

Molecular Survey of Vector-Borne Pathogens in Ticks, Sheep Keds, and Domestic Animals from Ngawa, Southwest China

Pathogens, 2022
Vector-borne pathogens are mainly transmitted by blood-feeding arthropods such as ticks, mosquitoes, fleas, lice, mites, etc. They pose a significant threat to animal and human health due to their worldwide distribution.
Miao Lu, Junhua Tian, Hongqing Zhao, Hai Jiang, Xincheng Qin, Wen Wang, Kun Li   +6 more
doaj   +1 more source

Identification of vector-borne pathogens in dogs and cats from Southern Brazil

, 2016
Dogs and cats are often infected with vector-borne pathogens and play a crucial role as reservoirs and hosts in their life cycles. The aim of the present study was to investigate the occurrence of vector-borne pathogens among dogs and cats in the ...
Costa, M. M., do Amaral, R. B., André, M. R., Malheiros, J., Vieira, M. I.B., do Amaral, R. B. [UNESP], de Sousa, K. C.M., Machado, R. Z. [UNESP], André, M. R. [UNESP], de Sousa, K. C.M. [UNESP], Machado, R. Z.   +10 more
core   +1 more source

Molecular Diagnosis, Prevalence and Importance of Zoonotic Vector-Borne Pathogens in Cuban Shelter Dogs : A Preliminary Study

, 2020
The present study aimed to determine the prevalence of zoonotic vector-borne pathogens, including Anaplasma platys, Anaplasma phagocytophilum, Borrelia burgdorferi sensu lato, Ehrlichia canis and Rickettsia spp. in shelter dogs from Cuba.
Roblejo-Arias, Lisset, Lobo Rivero, Evelyn, Osvaldo Fonseca-Rodríguez, Díaz-Sánchez, Adrian Alberto,, Pérez Castillo, Anisleidy, Anisleidy Pérez Castillo, Fonseca Rodriguez, Osvaldo,, Corona-González, Belkis,, Vega Cañizares, Ernesto,, Marina L. Meli, Corona-González, Belkis, Fonseca Rodriguez, Osvaldo, Roblejo-Arias, Lisset,, Lobo Rivero, Evelyn,, Ernesto Vega Cañizares, Pérez Castillo, Anisleidy,, Meli, Marina L,, Adrian Alberto Díaz-Sánchez, Lisset Roblejo-Arias, Díaz-Sánchez, Adrian Alberto, Regina Hofmann-Lehmann, Vega Cañizares, Ernesto, Belkis Corona-González, Hofmann-Lehmann, Regina, Hofmann-Lehmann, Regina,, Evelyn Lobo Rivero, Meli, Marina L   +26 more
core   +1 more source

Intrinsic Photoactive Star ZnPc–Poly(glutamate) Nanoplatforms for Multimodal Glioblastoma Therapy and Brain‐Targeted Delivery

Advanced Functional Materials, EarlyView.
An intrinsic photoactive star‐shaped zinc phtalocyanine‐poly(L‐glutamic acid) (ZnPc‐PGA) nanoplatform for multimodal glioblastoma (GBM) therapy and brain‐targeted elivery. A ZnPc‐PGA‐based multifunctional theranostic nanocarrier platform enables image‐guided, multimodal GBM therapy. ZnPc‐PGA nanocarriers support the integration of fluorescence imaging,
Amina Benaicha‐Fernández, Teodora Ranđelović, Ana Armiñán, Víctor Sebastián, Manuel Fuentes, Cristián Huck‐Iriart, Esther Masiá, Paula Carrascosa‐Marco, Pablo Juanes‐Velasco, Snežana Đorđević, Clara Bayona, Ignacio Ochoa, Maria Medel, Inmaculada Conejos‐Sánchez, María J. Vicent   +14 more
wiley   +1 more source