0000000000269870
AUTHOR
Alberto Bianchi
Posterior tibial tendon dysfunction: Clinical and magnetic resonance imaging findings having histology as reference standard.
Abstract Objective To investigate the correlation between MRI, clinical tests, histopathologic features of posterior tibial tendon (PTT) dysfunction in patients with acquired adult flatfoot deformity surgically treated with medializing calcaneal osteotomy and flexor digitorum longus tendon transposition. Materials and methods Nineteen patients (11 females; age: 46 ± 15 year, range 18–75) were pre-operatively evaluated using the single heel rise (HR) and the first metatarsal rise (FMR) sign tests. Two reviewers graded the PTT tears on a I–III scale and measured the hindfoot valgus angle on the pre-operative MRI of the ankle. The specimens of the removed portion of PTT were histologically ana…
Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This …
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View
Barber-Say syndrome (BSS) and ablepharon-macrostomia syndrome (AMS) are infrequently reported congenital malformation disorders caused by mutations in the <i>TWIST2</i> gene. Both are characterized by abnormalities in ectoderm-derived structures and cause a very unusual morphology of mainly the face in individuals with otherwise normal cognition and normal physical functioning. We studied the impact that the presence of BSS and AMS has on psychosocial functioning of affected individuals and their families, using their point of view to start with. We tabulated frequently asked questions from affected individuals and families, and a parent of an affected child and an affected adul…
Clinical and imaging outcome of osteochondral lesions of the talus treated using autologous matrix-induced chondrogenesis technique with a biomimetic scaffold
Abstract Background The purpose of our study was to assess the clinical and imaging outcome of autologous matrix-induced chondrogenesis (AMIC) technique consisting of microfractures followed by the filling of osteochondral lesions of the talus (OLTs) with a cell-free biphasic collagen-hydroxyapatite osteochondral scaffold (MaioRegen). Methods Sixteen patients (eight males, age: 42.6 ± 18.4, range 14–74) with OLT repaired using AMIC technique, with implantation of MaioRegen, were clinically evaluated through the American Orthopedic Foot and Ankle Society Score (AOFAS) and a 10-point Visual Analogue Scale (VAS) pain score after a mean follow-up of 30 ± 16.9 months. The MRI examinations were p…
Clinical validation of 13-gene DNA methylation analysis in oral brushing samples for detection of oral carcinoma: an Italian multicenter study
Background The aim of this Italian multicenter study was to evaluate the diagnostic performance of a minimally invasive method for the detection of oral squamous cell carcinoma (OSCC) based on 13-gene DNA methylation analysis in oral brushing samples. Methods Oral brushing specimens were collected in 11 oral medicine centers across Italy. Twenty brushing specimens were collected by each center, 10 from patients with OSCC, and 10 from healthy volunteers. DNA methylation analysis was performed in blindness, and each sample was determined as positive or negative based on a predefined cutoff value. Results DNA amplification failed in 4 of 220 (1.8%) samples. Of the specimens derived from patien…