Results 41 to 50 of about 50,678 (282)

Selective Targeting of Tip Endothelial Cells as a Therapeutic Strategy for Tumor Angiogenesis

open access: yesAdvanced Science, EarlyView.
Doppel protein is selectively expressed in tip endothelial cells within the tumor vasculature, where it promotes tip cell motility and stabilizes the tip cell phenotype. Targeting Doppel with monoclonal antibodies disrupts this stabilization, impairs angiogenic sprouting, and reduces tumor angiogenesis, offering a selective and druggable switch for ...
Byoungmo Kim   +16 more
wiley   +1 more source

Cellular Identity Crisis: RD3 Loss Fuels Plasticity and Immune Silence in Progressive Neuroblastoma

open access: yesAdvanced Science, EarlyView.
Researchers discovered that therapy‐induced loss of RD3 protein in neuroblastoma triggers a dangerous shift: cancer cells become more stem‐like, invasive, and resistant to treatment while evading immune detection. RD3 loss suppresses antigen presentation and boosts immune checkpoints, creating an immune‐silent environment.
Poorvi Subramanian   +7 more
wiley   +1 more source

Prevalence of Congenital Anomalies of the Upper Limbs in Brazil: a descriptive cross-sectional study [PDF]

open access: yesSão Paulo Medical Journal
BACKGROUND: Congenital Anomalies of the Upper Limb (CAUL) are a group of structural or functional abnormalities that develop during intrauterine life and can lead to limb dysfunction.
Samuel Ricardo Batista Moura   +7 more
doaj   +1 more source

Improving prenatal detection of congenital hand defects through collaborative goal-directed antenatal care: a case report on symbrachydactyly

open access: yesCase Reports in Women's Health, 2020
Background: Prenatal ultrasonography for the detection of fetal structural anomaly is an important component of antenatal care. During the assessment, proximal limb deformities are readily diagnosed. Distal limb, especially digit, abnormalities, however,
Nnabuike Chibuoke Ngene, Lawrence Chauke
doaj   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young   +6 more
wiley   +1 more source

Correction of Triphalangeal Thumb with a Small Delta Phalanx by Proximal Phalanx Closed Wedge Osteotomy

open access: yesJournal of Orthopedic and Spine Trauma
Triphalangeal thumb is a rare congenital anomaly especially in Asian population. Traditional treatments depend on the type of deformity and the presence of concomitant anomalies and include either excision in addition to the ligament reconstruction or ...
Mohammad Ali Okhovatpour   +1 more
doaj   +1 more source

Nosologia das doenças da mão de crianças e jovens operados em mutirões realizados em hospital de referência no estado de pernambuco Nosology of hand diseases in children and adolescents operated in provisional facilities in a model hospital - pernambuco state, Brazil

open access: yesRevista Brasileira de Ortopedia, 2010
OBJETIVO: Relatar a frequência das doenças congênitas da mão operadas em sistema de mutirão no SOS Mão de Recife entre 2005 e 2009. MÉTODOS: Foram coletadas as informações de 833 crianças e adolescentes examinados em oito missões.
Mauri Cortez   +4 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston   +35 more
wiley   +1 more source

Congenital absence of the left thumb in a surviving twin - a genetic disorder

open access: yesNational Journal of Clinical Anatomy, 2014
Congenital absence of left thumb with deformities of carpal bones in a twin born adult woman is reported here. The subject is the only surviving twin aged forty years reported to the hospital with a complaint of weakness of left hand.
D N Sinha
doaj   +1 more source

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