Results 31 to 40 of about 418,967 (342)
Sudanese Journal of Paediatrics, 2019 We present a 4-year-old girl with persistent anterior fontanelle and narrow sloping shoulders. The X-ray imaging revealed widely open anterior fontanelle, supernumerary teeth, and absence of clavicles. Therefore, the diagnosis was cleidocranial dysplasia, which is a rare autosomal dominant skeletal disease, caused by the mutation in the gene on 6p21 ...
Stepan, Kutilek +2 more
openaire +2 more sources
Forty-Year Analysis of Colonoscopic Surveillance Program for Neoplasia in Ulcerative Colitis: An Updated Overview [PDF]
, 2015 C.R.C. was funded by the Derek Willoughby Fund for Inflammatory Research. A.L.H. and T.A.G.
Ailsa L Hart +31 more
core +1 more source
Molecular Therapy: Methods & Clinical DevelopmentMucopolysaccharidosis 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 +5 more
doaj +1 more source
A Single-Arm, Proof-Of-Concept Trial of Lopimune (Lopinavir/Ritonavir) as a Treatment for HPV-Related Pre-Invasive Cervical Disease [PDF]
, 2016 BACKGROUND: Cervical cancer is the most common female malignancy in the developing nations and the third most common cancer in women globally. An effective, inexpensive and self-applied topical treatment would be an ideal solution for treatment of ...
A Kwara +48 more
core +4 more sources
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
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 +6 more
doaj +1 more source
Retinal Dysplasia Mimicking Retinoblastoma. [PDF]
, 2012 Retinal dysplasia represents a congenital disorder characterized by abnormal proliferation of retinal tissue causing leukocoria. We present a case of an infant with bilateral leukocoria, clinically diagnosed as retinoblastoma, followed by enucleation of ...
Joji, A +3 more
core +1 more source
Screening Relevance of Sessile Serrated Polyps [PDF]
, 2019 Conventional adenomas have historically been considered to be the only screening-relevant colorectal cancer (CRC) precursor lesion. The prevailing paradigm was that most CRCs arise along the chromosomal instability pathway, where adenomas accumulate ...
Kahi, Charles J.
core +1 more source
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 +2 more
wiley +1 more source
AIDS Research and TherapyBackground 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 +8 more
doaj +1 more source