Novel variant p.E269K confirms causative role of PLS1 mutations in autosomal dominant hearing loss

Auditory reception relies on the perception of mechanical stimuli by stereocilia and its conversion to electrochemical signal. Mechanosensory stereocilia are abundant in actin, which provides them with structural conformity necessary for perception of auditory stimuli. Out of three major classes of actin-bundling proteins, plastin 1 encoded by PLS1, is highly expressed in stereocilia and is necessary for their regular maintenance. A missense PLS1 variant associated with autosomal dominant hearing loss (HL) in a small family has recently been reported. Here, we present another PLS1 missense variant, c.805G > A (p.E269K), in a Turkish family with autosomal dominant non-syndromic HL confirming the causative role of PLS1 mutations in HL. We propose that HL due to the p.E269K variant is from the loss of a stable PLS1-ACTB interaction.     

Modification of Surface and Subsurface Properties of AA1050 Alloy by Shot Peening

AA1050 Al alloy samples were shot-peened using stainless-steel shots at shot peening (SP) pressures of 0.1 and 0.5 MPa and surface cover rates of 100% and 1000% using a custom-designed SP system. The hardness of shot-peened samples was around twice that of unpeened samples. Hardness increased with peening pressure, whereas the higher cover rate did not lead to hardness improvement. Micro-crack formation and embedment of shots occurred by SP, while average surface roughness increased up to 9 µm at the higher peening pressure and cover rate, indicating surface deterioration. The areal coverage of the embedded shots ranged from 1% to 5% depending on the peening parameters, and the number and the mean size of the embedded shots increased at the higher SP pressure and cover rate. As evidenced and discussed through the surface and cross-sectional SEM images, the main deformation mechanisms during SP were schematically described as crater formation, folding, micro-crack formation, and material removal. Overall, shot-peened samples demonstrated improved mechanical properties, whereas sample surface integrity only deteriorated notably during SP at the higher pressure, suggesting that selecting optimal peening parameters is key to the safe use of SP. The implemented methodology can be used to modify similar soft alloys within confined compromises in surface features.     

Premenstrual syndrome and fibromyalgia: the frequency of the coexistence and their effects on quality of life

Objective: We aimed to investigate the association between Premenstrual syndrome (PMS) and fibromyalgia syndrome (FMS), to assess common symptoms and quality of life (QOL) of them.

Methods: Patients with PMS formed the PMS group and age-matched healthy normal controls were included in the control group. The diagnosis of the FMS and PMS were based on new American College of Rheumatology FMS criteria and DSM-IV PMS criteria. FMS-related symptoms assessed by visual analog scale and number of tender points (TePs) were analyzed. QOL, PMS severity and FMS severity were assessed with SF-36, fibromyalgia impact questionnaire (FIQ) and premenstrual assessment form (PAF), respectively. Patients with PMS were divided into two subgroups according to coexistence of FMS or not.

Results: The frequency of FMS in PMS and control group were 20 and 0%, respectively (p?=?0.002). FMS-related symptoms, number of TePs in the PMS group were higher than those in the control group. The mean mental component summary (MCS) score of SF-36 was low in the PMS group. The mean PAF score in PMS with FMS subgroup was higher than those in without FMS subgroup. The mean physical component summary of SF-36 was low in the PMS patient with FMS. There was correlation between PAF score and FIQ score (r?=?0.476, p?Conclusion: FMS was common among the patients with PMS and frequently seen in the PMS patients having severe premenstrual complaints. Mental QOL was distressed in the patients with PMS but while FMS accompanied to PMS, the physical QOL was decreased.     

Cytology of a giant adult-type rhabdomyoma of the tongue

Adult rhabdomyoma is a rare primary benign tumour of striated muscle origin that almost exclusively presents in the head and neck region with predilection for male. We herein report a case of an adult rhabdomyoma in a 67-year-old male with cytologic features. The lesions was located in the tongue extended to the left parapharyngeal region. We discuss the cytological findings with a brief review of the literature on this entity.