CT is a valuable imaging technique in the diagnostic work-up of Behçet disease. CT effectively demonstrates vascular system involvement that is the main cause of mortality in these patients. CT is also effective in detecting mediastinal, pleural, and pulmonary parenchymal findings related to the disease.

The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D). This study demonstrates that individuals who are evaluated for NSHL can have pathogenic variants in SHL genes that are not usually considered for etiologic studies.

Ninety-three patients were included in the study. Nineteen patients with semicircular canal dehiscence were detected. The mean age of the study group was 45 years. Radiologic evidence of SSCD occurred in 23 of 186 temporal bones with a radiologic prevalence of 12%. The most common symptoms in dehiscent patients were vertigo, hearing loss and tinnitus. Defect lengths varied between 1 mm and 6.5 mm.

Our data suggest that latent interstitial pulmonary involvement may occur during the course of UC, despite an absence of symptoms of lung disease.

CT bronchus sign (BS) designates a bronchus leading directly to a peripheral pulmonary lesion. The objective of this investigation is to determine the contribution of BS-guided bronchoscopic multiple diagnostic procedures (BMDPs) to the diagnostic yield of solitary nodules or masses (SPNMs) suspected of pulmonary carcinoma (PC). A prospective study was carried out in 92 patients with a 2–5 cm diameter SPNM at the level of third to fifth bronchial branching and without endobronchial tumors. Within 10 days after 2-mm CT scans were done, in each of 92, bronchial washing (BW), brushing (BR), transbronchial needle aspiration (TBNA) and transbronchial lung biopsy (TBB) were performed respectively, via fiberoptic bronchoscopy (FB) under fluoroscopic guidance. In 40 (82%) of 49 with BS and in 19 (44%) of 43 without BS, FB established the diagnosis (p < 0.01). In 84 cases of PC, BW, BR, TBNA and TBB provided the diagnostic yields of 4% (3), 26% (22), 57% (48) and 49% (41), respectively; the combined yield reached 68% (57). A metastasis and a tuberculoma were diagnosed exclusively by TBB, and TBNA, respectively. All differences of diagnostic yield except that between TBNA and TBB (p > 0.05) were determined to be significant (p < 0.05). Thoracotomy verified diagnosis in 48 of 59 cases diagnosed and 19 of 33 undiagnosed by FB, and various tissue biopsies or clinical follow-up in 11 diagnosed and 14 undiagnosed by FB. The above data suggest that in the diagnosis of PC as a SPNM at the level of third–fifth bronchial branching, combining the guidance of CT BS, and BMDPs under fluoroscopic guidance can increase the yield considerably.