Results 41 to 50 of about 513,093 (363)

In vivo direct lentiviral gene therapy improves disease pathology in a mucopolysaccharidosis IVA murine model

Molecular Therapy: Methods & Clinical Development
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder that causes the accumulation of keratan sulfate (KS) and chondroitin-6-sulfate in bone and cartilage.
Betul Celik, Estera Rintz, Shaukat Khan, Andrés Felipe Leal, Fnu Nidhi, Shunji Tomatsu   +5 more
doaj   +1 more source

Association of Chorioamnionitis With Bronchopulmonary Dysplasia Among Preterm Infants

JAMA Network Open, 2019
Key Points Question Is chorioamnionitis a risk factor for developing bronchopulmonary dysplasia in preterm infants? Findings This systematic review, meta-analysis, and metaregression found that chorioamnionitis was associated with an increased risk of ...
Eduardo Villamor-Martínez, M. Álvarez-Fuente, A. M. Ghazi, P. Degraeuwe, L. Zimmermann, B. Kramer, E. Villamor   +6 more
semanticscholar   +1 more source

Skeletal Dysplasias [PDF]

Clinics in Perinatology, 2015
The skeletal dysplasias are a group of more than 450 heritable disorders of bone. They frequently present in the newborn period with disproportion, radiographic abnormalities, and occasionally other organ system abnormalities. For improved clinical care, it is important to determine a precise diagnosis to aid in management, familial recurrence, and ...
openaire   +4 more sources

Case of Monostotic Fibrous Dysplasia in the hand [PDF]

, 2002
A case of monostotic fibrous dysplasia in the proximal phalanx of an otherwise healthy, twenty-five year old is discussed. Fibrous dysplasia in the hand is rarely seen. Our patient presented with a swelling in his proximal phalanx.
Attard, Gerhardt, Sciberras, Carmel, Zammit, Jason   +2 more
core  

Liver transplantation for arteriohepatic dysplasia (Alagille's syndrome) [PDF]

, 1992
Thirteen out of 268 children (
Borland, L, Carone, E, ChapChap, P, Esquivel, CO, Marino, IR, Rowe, MI, Starzl, TE, Todo, S, Tzakis, AG, Zetti, G   +9 more
core   +1 more source

The newfound relationship between extrachromosomal DNAs and excised signal circles

FEBS Letters, EarlyView.
Extrachromosomal DNAs (ecDNAs) contribute to the progression of many human cancers. In addition, circular DNA by‐products of V(D)J recombination, excised signal circles (ESCs), have roles in cancer progression but have largely been overlooked. In this Review, we explore the roles of ecDNAs and ESCs in cancer development, and highlight why these ...
Dylan Casey, Zeqian Gao, Joan Boyes
wiley   +1 more source

Challenges in the implementation of a high-resolution anoscopy clinic for people with HIV in an oncologic center in Mexico City

AIDS Research and Therapy
Background Anal cancer incidence is increased in people with HIV (PWH), up to 60 times higher in men who have sex with men, and almost 15 times higher among women with HIV.
Patricia Volkow, Salim Barquet-Muñoz, Naomi Jay, Maria-José Mendoza, Paulina Moctezuma, Mariel Morales-Aguirre, Delia Pérez-Montiel, Víctor Larraga, Alexandra Martin-Onraet   +8 more
doaj   +1 more source

Diagnosis of oral potentially malignant disorders: Overview and experience in Oceania

Frontiers in Oral Health, 2023
The diagnosis and management of oral potentially malignant disorders (OPMD) should be the same the world over, but there are important nuances in incidence, aetiological factors, and management opportunities that may lead to differences based on ...
Alison M. Rich, Haizal M. Hussaini, Muhammad Aiman Mohd Nizar, Ratu Osea Gavidi, Elizabeth Tauati-Williams, Muhammed Yakin, Benedict Seo   +6 more
doaj   +1 more source

Tibial Tubercle Osteotomy and Medial Patellofemoral Ligament Imbrication for Patellar Instability Due to Trochlear Dysplasia. [PDF]

, 2019
BackgroundThe treatment of patellar instability in the setting of trochlear dysplasia is challenging.Purpose/hypothesisThe purpose of this study was to evaluate outcomes for the treatment of recurrent patellar dislocations due to trochlear dysplasia ...
Allen, Christina R, Ding, David Y, Feeley, Brian T, Hodax, Jonathan D, Leathers, Michael P, Ma, C Benjamin, Zhang, Alan L   +6 more
core   +1 more source

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source