Repeat Expansions with Small TTTCA Insertions in MARCHF6 Cause Familial Myoclonus without Epilepsy
Movement Disorders, EarlyView.Abstract Background Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder caused by the same intronic TTTTA/TTTCA repeat expansion in seven distinct genes. TTTTA‐only expansions are benign, whereas those containing TTTCA insertions are pathogenic.
Theresa Kühnel +12 more
wiley +1 more source
Immunological MedicineImmune reconstitution inflammatory syndrome (IRIS) experienced in rheumatology practice is diverse and includes opportunistic infections such as herpes zoster (HZ).
Keisuke Maeshima
doaj +1 more source
Immune Reconstitution Inflammatory Syndrome (IRIS)—Another New Disease Entity Following Treatment Initiation of HIV Infection [PDF]
, 2005 Frank-Detlef Goebel
openalex +1 more source
Horner syndrome in a pediatric patient
Pediatric Investigation, EarlyView.Horner syndrome (HS) is a rare neurological disorder arising from disruption of the oculosympathetic pathway. paediatric HS is uncommon and may be congenital, however it is imperative that underlying sinister causes are excluded. ABSTRACT Introduction Horner syndrome (HS) is a rare neurological disorder arising from disruption of the oculosympathetic ...
Devansh Tandon +4 more
wiley +1 more source
Does CD4+CD25+foxp3+ cell (Treg) and IL-10 profile determine susceptibility to immune reconstitution inflammatory syndrome (IRIS) in HIV disease? [PDF]
, 2008 Esaki M. Shankar +9 more
openalex +1 more source
Ocular involvement in newly diagnosed pediatric leukemia: A systematic review and meta‐analysis
Pediatric Investigation, EarlyView.The global prevalence of ocular involvement in pediatric leukemia is estimated to be 20.32%, which is more common than previously recognized. Given the high rate of asymptomatic involvement, screening for all newly diagnosed leukemia patients is recommended.
Kristina Nazzicone +5 more
wiley +1 more source
Computerized assessment of syntactic complexity in Alzheimer’s disease: a case study of Iris Murdoch’s writing [PDF]
, 2010 Serguei Pakhomov +3 more
openalex +1 more source
Small, EarlyView.The multifunctional dual‐layered nanomatrix addresses post‐surgical challenges in triple‐negative breast cancer by integrating shape control, wound adherence, and tunable drug release. It delivers anticancer and antibacterial therapies through chemodynamic therapy, photothermal therapy, ferroptosis, cuproptosis, and sustained chemotherapy, enhancing ...
Sungyun Kim +8 more
wiley +1 more source
Anterior segment optical coherence tomography findings of iris granulomas in Hansen's disease: a case report [PDF]
, 2013 Padmamalini Mahendradas +5 more
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Polymeric Giant Unilamellar Vesicles Support Longevity of Native Nuclei in Protocells
Small Science, EarlyView.Native nuclei are isolated and incorporated into polymeric giant unilamellar vesicles (pGUVs) using microfluidics. Nucleated pGUVs retain nuclear integrity and function, providing a new platform to study the import process of peptide‐based multicompartment micelles via nuclear localization signals. This bottom‐up chimeric system lays the groundwork for
Lukas Heuberger +7 more
wiley +1 more source