De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Actin molecules are fundamental for embryonic structural and functional differentiation; γ-actin is specifically required for the maintenance and function of cytoskeletal structures in the ear, resulting in hearing. Baraitser-Winter Syndrome (B-WS, OMIM #243310, #614583) is a rare, multiple-anomaly genetic disorder caused by mutations in either cytoplasmically expressed actin gene, ACTB (ß-actin) or ACTG1 (γ-actin). The resulting actinopathies cause characteristic cerebrofrontofacial and developmental traits, including progressive sensorineural deafness. Both ACTG1-related non-syndromic A20/A26 deafness and B-WS diagnoses are characterized by hypervariable penetrance in phenotype. Here, we identify a 28th patient worldwide carrying a mutated γ-actin ACTG1 allele, with mildly manifested cerebrofrontofacial B-WS traits, hypervariable penetrance of developmental traits and sensorineural hearing loss. This patient also displays brachycephaly and a complete absence of speech faculty, previously unreported for ACTG1-related B-WS or DFNA20/26 deafness, representing phenotypic expansion. The patient's exome sequence analyses (ES) confirms a de novo ACTG1 variant previously unlinked to the pathology. Additional microarray analysis uncover no further mutational basis for dual molecular diagnosis in our patient. We conclude that γ-actin c.542C > T, p.Ala181Val is a dominant pathogenic variant, associated with mildly manifested facial and cerebral traits typical of B-WS, hypervariable penetrance of developmental traits and sensorineural deafness. We further posit and present argument and evidence suggesting ACTG1-related non-syndromic DFNA20/A26 deafness is a manifestation of undiagnosed ACTG1-related B-WS.

Radiological Imaging of Gastro-Entero-Pancreatic Neuroendocrine Tumors. The Review of Current Literature Emphasizing the Diagnostic Value of Chosen Imaging Methods.

Despite development of radiologic imaging, detection and follow-up of neuroendocrine neoplasms (NENs) still pose a diagnostic challenge, due to the heterogeneity of NEN, their relatively long-term growth, and small size of primary tumor. A set of information obtained by using different radiological imaging tools simplifies a choice of the most appropriate treatment method. Moreover, radiological imaging plays an important role in the assessment of metastatic lesions, especially in the liver, as well as, tumor response to treatment. This article reviews the current, broadly in use imaging modalities which are applied to the diagnosis of GEP-NETs, (the most common type of NENs) and put emphasis on the strengths and limitations of each modality.

Evaluation of brain lesions in patients after coronary artery bypass grafting using MRI with the emphasis on susceptibility-weighted imaging.

INTRODUCTION: Patients undergoing coronary artery bypass grafting (CABG) are at risk of strokes and neurocognitive disorders. THE AIM OF THE STUDY: The aim of the study was to assess the clinical utility of susceptibility-weighted imaging (SWI) MRI in detection of new brain lesions in patients after CABG. We assessed the incidence and types of brain lesions and correlated the data with neurological examinations in groups of patients who underwent on-pump and off-pump CABG. MATERIAL AND METHODS: Patients underwent a neurological examination and MRI before, 6-20 days after and 6 months after the CABG. Fifty-one patients (43 men, mean age 63.12 years) were analyzed. RESULTS: Fifteen (29.4%) patients underwent on-pump CABG, 36 (70.6%) off-pump CABG. On postoperative scans new lesions were detected in 12 (23.5%) patients. Ischemic lesions (visible on diffusion-weighted imaging [DWI]) were detected in 4 patients, in 6 lesions were visible on SWI, in 1 case lesions were visible on SWI and DWI. Hemorrhagic stroke was observed in 1 patient. In the group of patients who underwent on-pump CABG, new brain lesions were observed in 60.0% of patients vs. 8.3% of those who underwent off-pump CABG (p < 0.0001); these changes more frequently were multiple (p < 0.0013) and located infratentorially (p < 0.0218). Lesions visible on SWI were observed only in patients undergoing on-pump CABG (p = 0.00005). In all patients (except for 1 with stroke), lesions visible in MRI were clinically silent. CONCLUSIONS: The use of SWI enables one to detect lesions occurring in the brain after CABG, invisible in other sequences. On-pump CABG is associated with a greater risk of clinically silent brain damage compared to off-pump CABG.