A Turkish family with Nance-Horan syndrome due to a novel mutation

Nance-Horan Syndrome (NHS) is a rare X-linked syndrome characterized by congenital cataract which leads to profound vision loss, characteristic dysmorphic features and specific dental anomalies. Microcornea, microphthalmia and mild or moderate mental retardation may accompany these features. Heterozygous females often manifest similarly but with less severe features than affected males. We describe two brothers who have the NHS phenotype and their carrier mother who had microcornea but not cataract. We identified a previously unreported frameshift mutation (c.558insA) in exon 1 of the NHS gene in these patients and their mother which is predicted to result in the incorporation of 11 aberrant amino acids prior to a stop codon (p.E186Efs11X). We also discussed genotype–phenotype correlation according to relevant literature.     

Photoluminescence and piezoelectric behaviour of Y2Zr2O7 pyrochlore‐based multifunctional materials and the influence of Eu3+ and Sm3+

Y₂Zr₂O₇‐doped with Eu³⁺ and Sm³⁺ phosphors were prepared for the first time as multifunctional smart materials using a solid‐state reaction method at 1400^oC. Thermal behaviour, crystal structure, surface morphology, and elemental analysis were characterized using thermogravimetric (TG) and differential thermal (DTA) analyses, X‐ray diffraction (XRD) and scanning electron microscope equipped with energy‐dispersive X‐ray spectroscopy (SEM‐EDX). Experimental results revealed that both phosphors have a pyrochlore structure with a cubic crystal system. Photoluminescence properties were also measured and red emission was observed from Y_1.90Eu_0.10Zr₂O₇ and Y_1.90Sm_0.10Zr₂O₇ phosphors. Dielectric constant, loss tangent, piezoelectric charge constant, and Curie temperature of all the samples were determined using an LCR‐meter, d₃₃‐meter, and TG/DTA. Eu doping in Y₂Zr₂O₇ resulted in a high dielectric constant (9.61) and low loss tangent (1.67%) values, whereas high piezoelectric charge constant (0.68 pC/N) and high Curie temperature (820°C) could be obtained using Sm‐doped Y₂Zr₂O₇.     

Morphological parallelism of sympatric cave-dwelling microsnails of the genus Georissa at Mount Silabur,Borneo (Gastropoda,Neritimorpha, Hydrocenidae)

Parallel evolution in phenotype may result when closely related taxa are adapting in the face of similar ecological pressures. Here, we discuss possible parallelism in shell morphology in the context of the microgeographic phylogeography of two conchologically distinct sympatric hydrocenid snails inhabiting a limestone outcrop and its cave system, Georissa pyrrhoderma and Georissa silaburensis, respectively, at Mount Silabur in Sarawak, Malaysian Borneo. Our results show a certain degree of morphological parallelism of a third, possibly new, cryptic Georissa species within the same cave that strongly diverged from its above-ground sister species, G. pyrrhoderma. We found that both sympatric cave species have shifted from a more sculptured, conical shell toward a broader, less sculptured form.     

Focus: Preventive Medicine: Pre-Participation Screening of Athletes: Primary Health Care Physicians’ Knowledge,Experience, and Approach in Turkey

Pre-participation screening (PPS) is crucial for assessing the competitive athletes since their risk of sudden death is higher than non-athletes. In Turkey, PPS is performed at the primary health care setting by primary care physicians (PCPs) who are family medicine specialists (FMSs) or general practitioners (GPs). Although there are national guidelines, there is no legal regulation for this process. This study aims to evaluate PCPs’ knowledge, experience, and approach about PPS. We prepared an online survey for PCPs and used non-probabilistic sampling. PPS attitudes and practices were analyzed and compared according to factors such as experience, education, and being GP or FMS. Of the 214 PCPs included in the study, 39.3% were female. The mean age was 44.9 years (SD:8.88). The average work experience was 7.9 years. Most participants were aware of their authorization to perform PPS (89.7%) and had previously prepared it (90.2%). However, 6.5% of them felt confident in performing PPS. Only 13.1% were aware of the guidelines. Almost 25% of the participants stated being informed about the subject at some part of their career, but this did not affect the confidence or referral decisions. In addition to medical history and physical examination, further testing was considered necessary by 96.3% of the participants. Significantly more tests were ordered by GPs than FMSs (p=0.026 and p=0.011, respectively). The accurate referral decision ratio was 59.3%, without difference between FMSs and GPs (p=0.216). We found that awareness of the guidelines was low among PCPs who lack confidence in PPS. These factors collectively increased the tendency for unnecessary further testing and referral. Therefore, the PPS implementation into medical school and residency curriculums and national legal regulation for the process is a necessity in Turkey.     

Identification of copy number variants in children and adolescents with autism spectrum disorder: a study from Turkey

Molecular Biology Reports - Copy number variants (CNVs) play a key role in the etiology of autism spectrum disorder (ASD). Therefore, recent guidelines recommend chromosomal microarrays (CMAs) as...     

Suppression of TLR4/MyD88/TAK1/NF-κB/COX-2 Signaling Pathway in the Central Nervous System by Bexarotene,a Selective RXR Agonist,Prevents Hyperalgesia in the Lipopolysaccharide-Induced Pain Mouse Model

Neurochemical Research - A selective RXR agonist, bexarotene, has been shown to have anti-inflammatory, anti-nociceptive, and neuroprotective effects in several models of numerous neurological...     

Effects of subthalamic deep brain stimulation on fixational eye movements in Parkinson’s disease

Journal of Computational Neuroscience - Miniature yoked eye movements, fixational saccades, are critical to counteract visual fading. Fixational saccades are followed by a return saccades forming...     

Lessons learned from the syndrome of oculopalatal tremor

Journal of Computational Neuroscience - The syndrome of oculopalatal tremor (OPT) featuring the olivo-cerebellar hypersychrony leads to disabling pendular nystagmus and palatal myoclonus. This rare...     

Protective Effect of Nigella sativa and Nigella damascena Fixed Oils Against Aflatoxin Induced Mutagenicity in the Classical and Modified Ames Test

The antioxidant and mutagenic/antimutagenic activities of the fixed oils from Nigella sativa (NSO) and Nigella damascena (NDO) seeds, obtained by cold press-extraction from the cultivar samples, were comparatively investigated for the first time. The antimutagenicity test was carried out using classical and modified Ames tests. The fatty acid composition of the fixed oils was characterized by gas chromatography–mass spectrometry (GC-MS) while the quantification of thymoquinone in the fixed oils was determined by UPC². The main components of the NSO and NDO were found to be linoleic acid, oleic acid, and palmitic acid. The results of the Ames test confirmed the safety of NSO and NDO from the viewpoint of mutagenicity. The results of the three antioxidant test methods were correlated with each other, indicating NDO as having a superior antioxidant activity, when compared to the NSO. Both NSO and NDO exhibited a significant protective effect against the mutagenicity induced by aflatoxin B1 in Salmonella typhimurium TA98 and TA100 strains. When microsomal metabolism was terminated after metabolic activation of the mycotoxin, a significant increase in antimutagenic activity was observed, suggesting that the degradation of aflatoxin B1 epoxides by these oils may be a possible antimutagenic mechanism. It is worthy to note that this is the first study to assess the mutagenicity of NSO and NDO according to the OECD 471 guideline and to investigate antimutagenicity of NDO in comparison to NSO against aflatoxin.