ABSTRACT Schinzel‐Giedion Syndrome (SGS) is an ultra‐rare, multisystem, genetic developmental disorder caused by gain‐of‐function pathogenic variants in the SETBP1 gene. No standard of care (SoC) recommendations currently exist. To assess expert opinion on SoC for individuals with SGS using a modified Delphi method.
Jessica Duis+16 more
wiley +1 more source
Ventriculoscopy combined with Ommaya reservoir implantation for treatment of hydrocephalus with atypical neuroimaging features of neurocysticercosis: A case report. [PDF]
Chen Q, Shao Q, Chen L.
europepmc +1 more source
A Case of Tubercles in Both the Chest and Abdomen, Terminated by Hydrocephalus Internus [PDF]
James Jackson
openalex +1 more source
Sex-linked Hydrocephalus: Report of a Family with 15 Affected Members [PDF]
James Edwards, R. M. Norman, J M Roberts
openalex +1 more source
Abstract US clinical practice guidelines for the diagnostic evaluation of cognitive impairment due to Alzheimer's disease (AD) or AD and related dementias (ADRD) are decades old and aimed at specialists. This evidence‐based guideline was developed to empower all—including primary care—clinicians to implement a structured approach for evaluating a ...
Alireza Atri+10 more
wiley +1 more source
Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome-Case Report Series. [PDF]
Elekes T+6 more
europepmc +1 more source
Adherent junctions: Physiology, role in hydrocephalus and potential therapeutic targets
In all epithelial cells, the adherent junctions (AJs) with cadherin as the core play an important role in the maintenance of the connection and the formation of apical-basal polarity. The ependymal cells close to the ventricular system rely on AJs with N-
Zhiye Chen+13 more
doaj
Observations on Hydrocephalus Internus, with Cases, Read before Dumfries Medical Society, 4th November, 1822 [PDF]
William Maxwell
openalex +1 more source
MEGALENCEPHALY, INTERNAL HYDROCEPHALUS AND OTHER NEUROLOGICAL ASPECTS OF ACHONDROPLASIA [PDF]
John P. Dennis+2 more
openalex +1 more source
Diagnostic performance of plasma p‐tau217 and Aβ42/40 biomarkers in the outpatient memory clinic
Abstract INTRODUCTION Plasma biomarkers of Alzheimer's disease (AD) represent accessible alternatives to positron emission tomography (PET) and cerebrospinal fluid (CSF)‐based biomarkers in well‐characterized cohorts. It remains to be determined whether performance is maintained in outpatient clinics comprised of patients with multiple causes of ...
Yoav D. Piura+6 more
wiley +1 more source