Results 131 to 140 of about 15,320 (235)
Abstract Consensus‐based recommendations (CBRs) are essential for health care decision‐making when evidence is limited or conflicting. They can be developed using established methodologies such as the Delphi technique, the nominal group technique (NGT), and the RAND Corporation/University of California Los Angeles (UCLA) Appropriateness Method (RAM ...
Rowan Haffner +14 more
wiley +1 more source
ABSTRACT Tim Burton's Christmas trilogy, Batman Returns, The Nightmare Before Christmas and Edward Scissorhands are all characterized by his trademark features. These include characters with ambiguous identities, apparently “normal” worlds adjacent to spaces associated with difference and exclusion, and the inevitable intrusion of the latter into the ...
Fran Pheasant‐Kelly
wiley +1 more source
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
Research in all areas of sciences and humanities has led to the creation of a highly competitive environment which necessitates reporting of ideas, and discoveries at rapid pace.
Siddiqui, Anwar, Wasay, Mohammad
core +1 more source
Chronic Botulism in Humans: A Case Series
ABSTRACT This study presents novel clinical presentations of botulism, observed in both patients and goats from the same farm. Their symptoms appeared at the same time, suggesting a possible relation to animal visceral botulism. Interestingly, weight loss and weakness were the persistent signs, but not life‐threatening as expected in botulism.
Minoosh Shabani Barzegar +2 more
wiley +1 more source
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire +3 more
wiley +1 more source
Abstract Background Guidelines on Brief Resolved Unexplained Event (BRUE) only provide recommendations for infants categorized at lower risk. However, most infants fall into the higher‐risk category, leaving management decisions to individual clinicians and contributing to variation in care.
Nassr Nama +18 more
wiley +1 more source
This study expands the understanding of DYNC1H1‐related disorders by identifying rare phenotypes, including scapular winging and camptocormia. It highlights domain‐specific variant clustering, overlapping phenotypes, and emphasizes integrating genetic analyses into clinical workflows to improve diagnosis and understanding of these complex conditions ...
Maryam Namdari +10 more
wiley +1 more source
Models for infantile spasms: an arduous journey to the Holy Grail... [PDF]
Baram, Tallie Z
core +2 more sources
Infantile spasms belong to epileptic encephalopathies of early infancy and represent oneof the major causes for acquired mental retardation in early childhood.
Zvonka Rener Primec
doaj

