Results 71 to 80 of about 81,349 (232)

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
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

Efficacy and safety of intravenous methylprednisolone in the treatment of patients with active ankylosing spondylitis: Results of a 12-week, prospective, open-label, pilot (METALL) study

open access: yesТерапевтический архив, 2015
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  

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

open access: yesEpilepsia Open, EarlyView.
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

open access: yesEpilepsia Open, EarlyView.
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

The Effects of Methylprednisolone and Hyaluronic Acid on the Endometrium in Experimentally Induced Asherman Syndrome Rat Models: A Prospective Laboratory Study

open access: yesMedicina
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

open access: yesIbrain, Volume 11, Issue 1, Page 112-116, Spring 2025.
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

open access: yesRevista Cubana de Oftalmología, 2012
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  

Accu16S/AccuITS: Accurate and broadly applicable amplicon sequencing for absolute microbiome quantification

open access: yesiMeta, EarlyView.
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

open access: yesJPGN Reports, EarlyView.
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

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