Clinical and genetic spectrum of an orphan disease MPAN: a series with new variants and a novel phenotype

Introduction. Pathogenic variations in C19orf12 are responsible for two allelic diseases: mitochondrial membrane protein-associated neurodegeneration (MPAN); and spastic paraplegia type 43 (SPG43). MPAN is an orphan disease, which presents with spasticity, dystonia, peripheral nerve involvement, and dementia. The pattern of iron accumulation on brain MRI may be a clue for the diagnosis of MPAN. SPG43, on the other hand, is characterised by progressive lower limb spasticity without brain iron accumulation. We here present clinical and genetic findings of MPAN patients with potentially pathogenic C19orf12 variants.Materials and methods. Patients from 13 different families having progressive motor symptoms with irritative pyramidal signs and brain iron accumulation were screened for C19orf12 gene variants.Results. C19orf12 screening identified seven variants associated with MPAN in eight patients from seven families. We associated two pathogenic variants (c.24G > C; p.(Lys8Asn) and c.194G > A; p.(Gly65Glu)) with the MPAN phenotype for the first time. We also provided a genetic diagnosis for a patient with an atypical MPAN presentation. The variant c.32C > T; p.(Thr11Met), common to Turkish adult-onset MPAN patients, was also detected in two unrelated late-onset MPAN patients.Conclusions. Genetic analysis along with thorough clinical analysis supported by radiological findings will aid the differential diagnosis of MPAN within the neurodegeneration with brain iron accumulation spectrum as well as other disorders including hereditary spastic paraplegia. Dystonia and parkinsonism may not be the leading clinical findings in MPAN patients, as these are absent in the atypical case. Finally, we emphasise that the existence of frameshifting variants may bias the age of onset toward childhood

Clinical survival of No-prep indirect composite laminate veneers: a 7-year prospective case series study

Abstract Background The no preparation technique which is a reversible form of treatment characterized by the absence of tooth tissue preparation and preserves the soft tissue architecture while preserving all natural tooth structures is indicated in cases where the tooth structure allows material to be added. The aim of this study is to evaluate the clinical performance and survival rates of indirect composite laminate veneers with no preparation after 7 years. Materials and methods A total of 80 indirect composite veneers were placed on maxillary anterior teeth in 35 patients (n = 80). Diastema (n = 64), wedge tooth anomalies (n = 9) and re-shaping (n = 7) were the main indications for veneer treatments. All laminate veneers were fabricated with an indirect microhybrid composite material (Gradia, GC Dental). No tooth preparation was performed. Light-cured resin cement (Choice 2, Bisco) was used to lute the veneers. Composite veneers were evaluated using Modified United States Public Health Service criteria. Survival rates of the veneers were calculated using Kaplan-Meier statistics. The data containing the results of the USPHS criteria at baseline, 2 years and 7 years was statistically analyzed using Wilcoxon Signed Rank test at the 0.05 level of significance. Results The overall survival rate was 91.3%. After 7 years, 7 absolute failures including 4 debonding (marginal adaptation, score 4) and 3 fractures (fracture of restoration, score 3) were noted. Color match was scored as 1 (n = 34) and 2 (n = 15). Slightly rough surfaces (41 of 73 laminates) and slight marginal discoloration (15 of 73 laminates) were noted. The overall scores after 84 months were significantly higher than the baseline scores for the marginal adaptation (p = 0.008), color match (p = 0.000), marginal discoloration (p = 0.000), surface roughness (p = 0.000), and fracture of restoration (p = 0.001) criteria. Conclusions In this study, indirect composite veneers without any preparation on maxillary anterior teeth showed acceptable performance in terms of both survival rate and quality of restorations. This procedure offers a predictable and successful treatment that ensures maximum preservation of the intact tooth

Does conception spontaneously or with ART affect postpartum parenting behaviors?

Pregnancy and parenting may be psychologically more complex after assisted conception than after spontaneous conception. On the other hand, the literature demonstrates that mothers who conceived with ART comply with transition to parenting easily although they experience more problems in pregnancy and postpartum. This study aimed to compare postpartum parenting behaviors of women who conceived spontaneously or with ART. This descriptive, cross-sectional and comparative study was conducted between July 2017 and June 2018 in Dokuz Eylul University postpartum clinic with 50 spontaneous mother and 50 ART mothers. After a brief explanation of the study, the personal information form was applied to women and the parenting behaviours were observed by using Postpartum Parenting Behavior Scale. The total PPBS average score in the ART group was 5.40 +/- 1.41 compared with 3.62 +/- 2.24 in the comparison group. The ART mother displayed significantly a more positive attitude toward their infant than spontaneous mother (p = 0.00). Also, in six components of PPBS separately it was determined higher score in ART group, respectively (p = 0.04, p = 0.00, p = 0.00, p = 0.00, p = 0.00, p = 0.00). Mothers who were conceived with ART exhibit more positive parenting behaviors

Photochemical reactions of metal carbonyls [M(CO)(6) (M=Cr, Mo, W)] with N,N '-bis(salicylidene)-1,2-bis-(o-aminophenoxy)ethane

WOS: 000242715800004The complexes [M(CO)(4)(eta(2)-H2L)][M Cr; 1, Mo; 2, W; 3] have been synthesized by photochemical reactions of VIB metal carbonyls [M(CO)(6)] [M Cr, Mo, W] with N, N'-bis(salicylidene)-1,2-bis-(o-aminophenoxy) ethane (H2L) in THF and characterized by elemental analyses, FTIR, (HNMR)-H-1 and mass spectra. The H2L ligand is coordinated to the central metal as a bidentate ligand via the central azomethine nitrogen atoms in 1-3

THE EFFECT OF SOILS HAVING DIFFERENT SALT CONTENT ON MINERAL ACCUMULATIONS OF SOME FORAGE LEGUME SPECIES

WOS: 000375826700008Determining the mineral contents and cultivation potentials of forage species with different degrees of salt tolerance in soil having different chemical properties and salt contents can provide information about the fodder quality of forage species and the importance about animal feed. In the evaluation of saline soils, growing of salt tolerant or resistant plants is recently a widespread implementation. For this purpose, this study was planned to determine the effect of salinity stress on macro (P, K, Ca, Mg and Na) and micro (B, Mn, Cu, Fe and Zn) mineral accumulations of alfalfa (Medicago sativa L.), bird's foot trefoil (Lotus corniculatus L.) and sainfoin (Onobrychis sativa Lam.) species cultivated under non-saline soil (0.43 EC dS m(-1)) and saline soils (9.80 EC dS m(-1)) and to reveal whether or not the existing forage is adequate for mineral requirements of ruminants. Research was conducted in randomized blocks design with three replications on the Igdir Plain, located in eastern Turkey, between the years of 2011-2013. The mineral concentrations of the fodders were detected by ICP-OES. As a result of the study, significant differences were found among species in respect of the other minerals examined except for K and Na, and L.corniculatus was identified to be the richest species in terms of mineral content. Mineral compositions of the plants differed significantly among the year, and generally significant increases were recorded in mineral contents of the plants in years following the establishment year. In terms of soil types, only K, B, Mn and Cu contents were found statistically significant. The results of this study showed that soil salinity had no significant effect on especially the macro mineral contents of the plants. Besides, it was revealed that forage species cultivated in both soil types are an important mineral source (except for K) for ruminants.Scientific and Technological Research Council of TurkeyTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK) [110O259]; TUBITAKTurkiye Bilimsel ve Teknolojik Arastirma Kurumu (TUBITAK)This research was supported by the Scientific and Technological Research Council of Turkey with Project No. 110O259. The authors thank TUBITAK for it's funding

A rare malformation of urinary system: Right ectopic thoracic kidney

An ectopic kidney is a common developmental anomaly of the urinary system. However, the thoracic kidney (TK) is the rarest state form of an aberrant kidney. The aim of this case report is defining the symptoms in TK diagnosis and constructing a treatment model will promote the best outcomes. These patients come to the physician with the various symptoms, and they could be diagnosed incidentally. In our case, we describe 40 years female patient with severe respiratory problems and upper back pain. In the pulmonary clinic, suspected mass was diagnosed with chest X-ray, and computerized tomography detected nontraumatic nonhernia associated, a truly ectopic TK. Moreover, the thoracic surgeon and urologist team decided to exploration and reconstructed the right ectopic kidney. The 1st month of the control of patient symptoms was disappeared. Overall, TK should be kept in mind in the differential diagnosis of thoracic tumors. Surgical exploration and reconstruction should be thought in patients who have severe respiratory symptoms

RELIABILITY AND VALIDITY OF THE READINESS FOR INTERPROFESSIONAL LEARNING SCALE (RIPLS) IN TURKISH SPEAKING HEALTH CARE STUDENTS

WOS: 000434980000042Objectives: The purpose of the study was to provide psychometric evaluation of the Turkish version of the Readiness for Interprofessional Learning Scale (RIPLS). Material and methods: This cross-sectional study was carried out with 213 students at the Faculty of Medicine, Faculty of Dentistry and Faculty of Health Sciences. The construct validity of the Turkish version of the scale was analyzed with confirmatory factor analysis (CFA). To determine the reliability of the scale, the Cronbach's alpha coefficient was calculated. In addition, for the assessment of the discrimination of each item on the scale, the top and bottom 27 % from the groups that received the lowest and highest scores from the scale were compared. Results: Standardized coefficients determined with the CFA in the Turkish version of the scale ranged between 0.34 and 0.85 in the students (Except for Item 18). The explained variance values for the items other than item 18 ranged from 0.11 to 0.72. t-values of all the factor loadings were significant. According to the reliability studies of the RIPLS, the internal consistency of Cronbach's Alpha was 0.85 for the overall scale. The t-test results showed that all the items significantly discriminated between students of high and low performance (t: 99.57; p=0.01). Conclusion: As a result, it can be said that the validity and reliability study of the RIPLS administered to Turkish healthcare students indicated that the scale was capable of measuring the Turkish-speaking students' readiness for interprofessional education