WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

Clinical Oral Investigations - The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of...     

Measuring female intrasexual competition by the scale for intrasexual competition: a validation of the German version

Competitive behaviour amongst members of the same sex is termed intrasexual competition. The tendency to engage in such competition appears to be strongly related to stable individual characteristics such as personality traits. Additionally, recent studies have revealed transient fluctuations in competitiveness according to the female menstrual cycle. To date, no German questionnaire exists to measure intrasexual competition. Our first study aimed to translate and validate the Intrasexual Competition Scale (ICS) by Buunk and Fisher (J Evol Psychol 7:37–48, 2009) in a population of healthy Swiss females (n = 241). Our second study applied the validated German ICS in a group of healthy, regularly cycling females (n = 49) in order to examine possible associations between the menstrual cycle phase and ICS scores. The psychometric properties suggest that the German ICS is a reliable and valid tool to assess individual differences in female intrasexual competition. Furthermore, our second study demonstrated that on average, women showed higher intrasexual competition scores when tested in the late follicular phase (M = 35.77 ± SD = 12.03) compared to the mid-luteal phase (M = 30.93 ± SD = 10.20). Our studies support previous findings of an association between ICS scores and relatively stable individual characteristics such as personality traits. Furthermore, our research endorses the assumption of cycle-dependent fluctuations in intrasexual competition. Future research should clarify the precise mechanisms underlying these findings and include biomarkers such as oestrogen and testosterone.

     

Chest MRI Using Multivane-XD,a Novel T2-Weighted Free Breathing MR Sequence

ObjectiveTo compare image quality of free-breathing T2-weighted MultiVane-XD (MVXD) sequence (non-Cartesian k-space filling using radial rectangular blades) with conventional MR sequences (short tau inversion recovery [STIR],balanced true field echo [BTFE], T1 in phase fast field echo [T1 FFE], and T1-fat saturated postgadolinium [T1PG]) in MR imaging of chest.Materials and MethodsTwenty-one patients (10 men and 11 women) underwent chest MRI including T2W MVXD, STIR, BTFE (18/21), T1 FFE, T1PG (10/21) sequences at 1.5 T. Two reviewers (A.S.B and M.J. with 20 and 10 years of experience in pulmonary imaging, respectively) evaluated each sequence with respect to overall image quality, image sharpness, definition of mediastinal vessels including the aorta, pulmonary arteries, superior vena cava, intrapulmonary vessels; trachea, main bronchi, intrapulmonary airways; lung-mediastinal interface, pulmonary lesion detection, and artefacts in the upper, middle, and lower third of chest using 5-point scales. No sedation was given. Pairwise comparisons between T2W MVXD and the 4 conventional sequences were made using unpaired student's t test.ResultsMean age of patients was 30.67 years (range: 6-60 years). T2 MVXD showed significantly better overall image quality and sharpness than STIR, T1 FFE, and T1PG (P < 0.01) while it was comparable to BTFE. Mediastinal vessels were significantly better visualized on T2 MVXD as compared to STIR and T1 (P < 0.003). However, BTFE and T1PG were superior to T2 MVXD for visualization of great vessels, SVC, and intrapulmonary vessels (P < 0.01). Visualization of trachea, major bronchi, intrapulmonary airways as well as intrapulmonary lesion detection was significantly better on T2 MVXD images in comparison to any of the other 4 sequences (P < 0.03). Intrapulmonary artifacts were significantly lesser in BTFE images as compared to T2 MVXD (P < 0.01). No significant difference was found between the severity of intrapulmonary artifacts in other MR sequences as compared to T2 MVXD.ConclusionsBy virtue of its better overall image quality, sharpness, superior visualization of mediastinal airways, and lesion detection, T2 MultiVane-XD promises to be a robust addition in the armamentarium of thoracic radiologists.     

Loss of mitochondrial ClpP,Lonp1, and Tfam triggers transcriptional induction of Rnf213, a susceptibility factor for moyamoya disease

neurogenetics - Human RNF213, which encodes the protein mysterin, is a known susceptibility gene for moyamoya disease (MMD), a cerebrovascular condition with occlusive lesions and compensatory...     

Fatal neonatal nephrocutaneous syndrome in 18 Roma children with EGFR deficiency

Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein with tyrosine-kinase signaling activity, involved in many cellular functions including cell growth and differentiation. Germ line loss-of-function mutations in EGFR lead to a severe neonatal skin disorder (Online Mendelian Inheritance in Man #131550). We report 18 premature Roma children from 16 families with birthweights ranging 440–1470 g and multisystem diseases due to the homozygous mutation c.1283G˃A (p.Gly428Asp) in EGFR. They presented with thin, translucent, fragile skin (14/15), skin desquamation (10/17), ichthyosis (9/17), recurrent skin infections and sepsis (9/12), nephromegaly (10/16) and congenital heart defects (7/17). Their prognosis was poor, and all died before the age of 6 months except one 13-year-old boy with a severe skin disorder, dentinogenesis imperfecta, Fanconi-like syndrome and secondary hyperaldosteronism. Management of ion and water imbalances and extremely demanding skin care may improve the unfavorable outcome of such patients.