CT and MR imaging in a large series of patients with craniofacial fibrous dysplasia

BACKGROUND: In this retrospective review of patients with craniofacial fibrous dysplasia (FD), the clinical and radiological findings of CT and MR scan were analyzed. MATERIAL AND METHODS: The study material included 32 patients, at 9 to 68 years of age that were directed for differential diagnostics of several disorders in the head. We recorded CT and MRI data related to the lesion number, location, sidedness, appearance, and sex of the cases with craniofacial FD. RESULTS: Of 32 patients involved in this study, 17 had monostotic and 15 had polyostotic involvement pattern. Bones most commonly involved by monostotic involvement in females were, in descending order, mandibular, maxillary, and sphenoid bones, while the sphenoid bone was involved the most in males. Leontiasis ossea was observed in 2 patients. Sclerotic and mixed lesion types were more common in both females and males. In T1- and T2-weighted MRI sequences, hypointensity was more common compared to hyperintensity or heterogeneous intensity. The type of enhancement of lesions was found similar after contrast medium administration. CONCLUSIONS: In the presence of craniofacial FD during CT or MRI imaging of the head, a detailed description of FD lesions may provide an important clinical benefit by increasing radiological experience during the diagnostics of this rare disorder

Evaluation of hearing in patients with familial Mediterranean fever

Familial Mediterranean fever (FMF) is a common and well-understood hereditary periodic fever syndrome. Hereditary periodic fever syndromes include a group of multisystem diseases characterized by recurrent fever attacks with inflammation affecting skin, joints, and some other tissues. These are FMF, tumor necrosis factor receptor, tumor necrosis factor receptor associated periodic syndrome, hyperimmunglobulinemia D syndrome, Muckle-Wells syndrome, and familial cold urticaria. In literature, it is determined that some of these diseases cause hearing loss. In light of the foregoing, we thought that FMF patients may have the same type of subclinical hearing loss and, therefore, the hearing ability of these patients was evaluated with otoacoustic emission and high frequency audiometry tests. Familial Mediterranean fever (FMF) is a common and well-understood hereditary periodic fever syndrome. Hereditary periodic fever syndromes include a group of multisystem diseases characterized by recurrent fever attacks with inflammation affecting skin, joints, and some other tissues. These are FMF, tumor necrosis factor receptor, tumor necrosis factor receptor associated periodic syndrome, hyperimmunglobulinemia D syndrome, Muckle-Wells syndrome, and familial cold urticaria. In literature, it is determined that some of these diseases cause hearing loss. In light of the foregoing, we thought that FMF patients may have the same type of subclinical hearing loss and, therefore, the hearing ability of these patients was evaluated with otoacoustic emission and high frequency audiometry tests.</p

MBL, P2X7, and SLC11A1 gene polymorphisms in patients with oropharyngeal tularemia

WOS: 000386069300016PubMed ID: 27223255Conclusion: A significant association was found of oropharyngeal tularemia with SLC11A1 allele polymorphism (INT4G/C) and MBL2 C+4T (P/Q). These results indicate C allele and Q allele might be a risk factor for the development of oropharyngeal tularemia.Aim: This study aimed to investigate the relationship of SLC11A1, MBL, and P2X(7) gene polymorphism with oropharyngeal tularemia.Methods: The study included totally 120 patients who were diagnosed with oropharyngeal tularemia. Frequencies of polymorphisms in the following genes were analyzed both in the patient and control groups in the study: SLC11A1 (5'(GT)(n) Allele 2/3, Int4G/C, 3' UTR, D543N G/A), MBL (MBL2 C+4T (P/Q), and P2X(7) (-762 C/T and 1513 A/C).Results: Among all polymorphisms that were investigated in this study, SLC11A1 gene showed a significance in the distriburtion of polymorphism allelle frequency at the INT4 region. Frequency of C allele was 54 (28%) in patients with oropharyngeal tularemia, and 31 (13%) in the control group (p=0.006 and OR = 1.96 (1.21-3.20)). An association was detected between MBL2 C+4T (P/Q) gene polymorphism and oropharyngeal tularemia (p0.05).Gaziosmanpasa UniversityGaziosmanpasa University [2014/14]This study was supported by the Gaziosmanpasa University (project no: 2014/14)

CLINICAL, EPIDEMIOLOGICAL AND PROGNOSTIC FEATURES OF CHILDREN WITH HEMOLYTIC UREMIC SYNDROME: MULTICENTER EXPERIENCE OF TURKEY

WOS: 00044399840014