Results 91 to 100 of about 30,633 (210)

Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 12, December 2025.
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

Pentalogy of Cantrell : the first Maltese case with successful outcome [PDF]

open access: yes, 1997
Pentalogy of Cantrell is a rare disorder which was first described by Cantrell and his colleagues in 1958. It is comprised of congenital heart disease and midline defects.
Grech, Victor E.   +2 more
core  

Musculoskeletal Diseases: Mechanisms and Therapeutic Advances

open access: yesMedComm, Volume 6, Issue 12, December 2025.
Musculoskeletal diseases comprise a broad spectrum of inflammatory, degenerative, and neoplastic disorders. Increasing evidence highlights the central role of immune regulation in their pathogenesis, with complex interactions among immune, bone, muscle, and stromal cells.
Xiao Ma   +17 more
wiley   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma

open access: yes
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Edwin Cuperus   +7 more
wiley   +1 more source

Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes

open access: yesPrenatal Diagnosis, Volume 45, Issue 13, Page 1689-1697, December 2025.
ABSTRACT Objective This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non‐lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.
H. Heinrich   +5 more
wiley   +1 more source

Frecuencia de hernias epigástricas ocultas en herniorrafias umbilicales: Experiencia de un centro de cirugía ambulatoria en Medellín

open access: yesRevista Colombiana de Cirugía
Introducción. Dentro de las hernias ventrales, las umbilicales tienen una incidencia del 6-14 %, mientras que las epigástricas del 1,6-3,6 %.
Óscar Gabriel Villamizar-Blanco   +6 more
doaj   +1 more source

Large-scale survey to estimate the prevalence of disorders for 192 Kennel Club registered breeds [PDF]

open access: yes, 2017
Background Pedigree or purebred dogs are often stated to have high prevalence of disorders which are commonly assumed to be a consequence of inbreeding and selection for exaggerated features.
Evans, K M   +4 more
core   +2 more sources

Application of the Da Vinci Single‐Port (SP) Robot in General Surgery: A First Systematic Review

open access: yesThe International Journal of Medical Robotics and Computer Assisted Surgery, Volume 21, Issue 6, December 2025.
ABSTRACT Introduction Minimally invasive surgery has revolutionized surgical practice by reducing surgical trauma and enhancing recovery. In this context, the da Vinci SP System represents a major technological advancement. This review aims to report its clinical applications in general surgery, evaluating associated outcomes and potential advantages ...
Antonio Cubisino   +2 more
wiley   +1 more source

Immunomodulatory Biomaterials for Bone and Soft Tissue Chronic Inflammation Diseases

open access: yesSmall Science, Volume 5, Issue 12, December 2025.
This review analyzes immunomodulatory biomaterial strategies for treating chronic inflammatory disorders in bone and soft tissues. It explores emerging mechanisms for resolving inflammation while promoting tissue regeneration, offering insights for developing targeted immunotherapeutic approaches that bridge material science with immunology for ...
Yiming Li   +7 more
wiley   +1 more source

Arthrogryposis: A Rare Manifestation in Infant of Diabetic Mother [PDF]

open access: yes, 2009
Arthrogryposis multiplex congenita is characterized by non-progressive, multiple joint contractures present at birth. The major cause of arthrogryposis is fetal akinesia due to fetal abnormalities like neurogenic, muscle, connective tissue abnormalities ...
Kumar, Arvind   +2 more
core  

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