Results 71 to 80 of about 81,349 (232)
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan +23 more
wiley +1 more source
Aim. To evaluate the efficacy and safety of intravenous methylprednisolone (MP) 500 mg in patients with active ankylosing spondylitis (AS) and the inefficiency, intolerability of or contraindications to treatment with 2 or more non-steroidal anti ...
I Z Gaydukova, A P Rebrov, D A Poddubnyi
doaj
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira +5 more
wiley +1 more source
The multiple hit model of infantile and epileptic spasms: The 2025 update
Abstract Objective Infantile and epileptic spasms syndrome (IESS) is a developmental and epileptic encephalopathy manifesting with epileptic spasms and poor neurodevelopmental outcomes. There is an urgent need for the development of more effective and tolerated therapies.
Aristea S. Galanopoulou +6 more
wiley +1 more source
Background and Objectives: The current study was designed as a prospective laboratory investigation to evaluate the histopathological effects and VEGF (vascular endothelial growth factor) expression in uterine tissue following treatment with a ...
Mehmet Genco +3 more
doaj +1 more source
A case report: Diagnosis and treatment of idiopathic hypertrophic pachymeningitis
We reported a case of idiopathic hypertrophic dura meningitis diagnosed in our hospital. The patient repeatedly suffered from headaches, followed by blurred vision in the right eye. During this period, multiple sclerosis was considered for diagnosis, and it improved after hormone treatment.
Zhong Luo +7 more
wiley +1 more source
Neuropatía óptica traumática Traumatic optic neuropathy
La neuropatía óptica traumática, en sus múltiples variantes, constituye una entidad poco frecuente. Se puede definir como aquella lesión del nervio óptico que aparece tras un episodio traumático.
Eliecer Pérez García +4 more
doaj
Traditional 16S rRNA gene and Internal Transcribed Spacer region amplicon sequencing provides only relative abundance, often leading to biased ecological interpretations. To overcome this limitation, we developed Accu16S/AccuITS, an absolute quantification method for bacterial and fungal amplicons based on synthetic internal spike‐in DNA with known ...
Defeng Bai +10 more
wiley +1 more source
Gastrointestinal strictures in a pediatric patient with Satoyoshi syndrome
Abstract We present a novel case of gastrointestinal strictures in a young girl with Satoyoshi syndrome (SS), highlighting multi‐system features of alopecia universalis, painful muscle cramps with dystonia, aberrant growth velocity, and skeletal abnormalities.
Katherine (Tusia) Pohoreski +5 more
wiley +1 more source

