Cognitive functions in neurofibromatosis type 1 patients and unaffected siblings

Attention, learning, and perceptual problems have been reported at various degrees and rates in neurofibromatosis type 1 (NF1). We aimed to define the cognitive profiles frequently associated with NF1. Children and adolescents with NF1 (n=58) were tested using Wechsler Intelligence Scales for Children-Revised (WISC-R), Judgment of Line Orientation, and Bender Visual-Motor Gestalt tests. Comparison groups were unaffected siblings of NF1 patients (n=20), children with attention deficit and hyperactivity disorder (ADHD, n=40), and normal children (n=40). No difference was found between familial or sporadic NF1 cases. Seventeen/58 (29%) of NF1 cases had a full scale IQ 80 (n=27) scored lower in WISC-R subtests measuring visual perception when compared to a healthy control group of similar intelligence, and lower in arithmetic but better in Bender-Gestalt and Judgment of Line Orientation tests when compared to an ADHD group of similar intelligence. These results indicate a high prevalence of mental retardation in a clinical NF1 series. NF1 patients who have normal intelligence may have impaired visual perception, but their visual perceptual problems are less than in ADHD. The tendency of unaffected siblings of NF1 patients to have mildly but consistently low test scores compared to healthy controls needs to be studied further for underlying genetic or environmental factors

Diagnostic value of combined serum biomarkers for the evaluation of liver fibrosis in chronic hepatitis C infection: A multicenter, noninterventional, observational study

Background/Aims: The hepatitis C virus (HCV) infection is important cause of chronic hepatitis. Liver biopsy is considered the gold standard for assessment of fibrosis but this procedure is an invasive procedure. We aimed to evaluate the diagnostic efficiency of non-invasive serum biomarkers, separately and in combinations, on liver fibrosis in treatment-naive chronic hepatitis C (CHC) patients. Materials and Methods: Two hundred and sixteen treatment-naive CHC patients were enrolled from 32 locations across Turkey in this open-labelled, non-interventional prospective observational study. FibroTest®, aspartate aminotransferase-to-platelet ratio index(APRI), aspartate aminotransferase and alanine aminotransferase ratio (AAR), fibrosis index based on four factors (FIB-4), Age-platelet(AP) index and Forns index were measured and compared with Metavir scores got from liver biopsies. Results: Data from 182 patients with baseline liver biopsy were suitable for analysis. One hundred and twenty patients (65.9%) had F0-F1 fibrosis and 62 patients (34.1%) had F2-F4 fibrosis. APRI 0.732 area under the curve(AUC) indicated advanced fibrosis with 69% sensitivity and 77% specificity. FIB-4 0.732 AUC and FibroTest 0.715 AUC indicated advanced fibrosis with 69% and 78.4% sensitivity, and 75% and 71.4% specificity, respectively. The combined use of tests also led to an increase in AUC and specificity. Combinations of FibroTest with APRI and/or FIB-4, and FIB-4 with APRI were optimal for the evaluation of liver fibrosis. Conclusion: Fibrotest, FIB-4, APRI, AP index and Forns index exhibit good diagnostic performance for determining liver fibrosis in CHC patients, and the use of at least two tests together will increase their diagnostic value still further. © Copyright 2018 by The Turkish Society of Gastroenterology

Discovery of os cordis in the cardiac skeleton of chimpanzees (Pan troglodytes)

Cardiovascular diseases, especially idiopathic myocardial fibrosis, is one of the most significant causes of morbidity and mortality in captive great apes. This study compared the structure and morphology of 16 hearts from chimpanzees (Pan troglodytes) which were either healthy or affected by myocardial fibrosis using X-ray microtomography. In four hearts, a single, hyperdense structure was detected within the right fibrous trigone of the cardiac skeleton. High resolution scans and histopathology revealed trabecular bones in two cases, hyaline cartilage in another case and a focus of mineralised fibro-cartilaginous metaplasia with endochondral ossification in the last case. Four other animals presented with multiple foci of ectopic calcification within the walls of the great vessels. All hearts affected by marked myocardial fibrosis presented with bone or cartilage formation, and increased collagen levels in tissues adjacent to the bone/cartilage, while unaffected hearts did not present with os cordis or cartilago cordis. The presence of an os cordis has been described in some ruminants, camelids, and otters, but never in great apes. This novel research indicates that an os cordis and cartilago cordis is present in some chimpanzees, particularly those affected by myocardial fibrosis, and could influence the risk of cardiac arrhythmias and sudden death

Cerebral involvement in pseudoxanthoma elasticum: Case report

Pseudoxanthoma elasticum (PXE) is a rarely seen connective tissue disease which is characterized by progressive fragmentation and calcification of elastic fibers. Generally it is characterized by cutaneus, ocular and vascular system involvement and neurological complications are usually secondary to vascular insufficiency. 43 years old male patient had a progressive dysarthria, ataxia and vision loss which started many years ago referred to our clinic. Loose skin was seen on bilateral his axillar region and neck with atrophic, pale viola macular lesions on his body. There was "angiloid streaks" on fundus examination and skin biopsy showed calcified degenerated elastic fibers on middle and deep dermis. Diffuse white matter lesions were determined on cranial imaging. To keep in mind the diagnosis of rare diseases would be helpful in early diagnosis and treatment, reducing and even preventing systemic complications

Seals of museums in eastern Turkey: Karaman, Nevsehir, Malatya, Maras | Sceaux des musées de la turquie orientale : Karaman, Nevşehir, Malatya, Maraş

Stemming from a survey program conducted by Esra Erdoğan in eastern Anatolia, this article presents the Byzantine lead seals housed in four Turkish museums : Malatya (formerly Melitene), Karaman (formerly Laranda), Kahramanmaraş (former Germanicea), and Nevşehir in Cappadocia. The interest in these collections is to gain new insight into the administrative organization of the Byzantine provinces established in these regions. All the seals examined are published here for the first time.Dans le cadre d’une enquête menée par Esra Erdoğan en Anatolie orientale, l’article présente les sceaux byzantins conservés dans quatre musées turcs : Malatya (l’ancienne Mélitène), Karaman (l’ancienne Laranda), Kahramanmaraş (l’ancienne Germanicée) et Nevşehir, en Cappadoce. L’intérêt de ces collections est d’offrir des perspectives renouvelées sur l’organisation administrative des provinces byzantines alors établies dans ces régions. Tous les sceaux ici présentés sont inédits.Cheynet Jean-Claude, Erdoğan Esra, Prigent Vivien. Sceaux des musées de la Turquie orientale : Karaman, Nevşehir, Malatya, Maraş. In: Revue des études byzantines, tome 74, 2016. pp. 287-326

Benign episodic unilateral mydriasis (case report)

Benign episodic unilateral mydriasis is a descriptive condition with recurrent unilateral mydriasis in adults, especially women with migraine. We report a 20 year-old male presenting with paroxysmal left pupil mydriasis and diagnosed as benign episodic unilateral mydriasis after exclusion of other reasons causing anisocoria

Anisotropy of Ll, Lα, Lβ, Lγ x-rays in Pb and Bi excited by 59.5 keV photons

The angular distribution of Ll, Lα, Lβ, Lγ x-rays induced by 59.5 keV photons in Pb and Bi was investigated at different angles varying from 45° to 135°. We observed that Ll, Lα, x-rays (originating from J=3/2) and Lβ, and Lγ x-rays (commonly originating from J=1/2) have different isotropy

Angular dependence of Lα/ Lι, Lα/ Lβ, Lα/ Lγ, Lβ/ Lγ intensity ratios of Tl and Au at 59.5 keV

The angular dependence of Lα/Lι, Lα/Lβ, Lα/Lγ, Lβ/Lγ intensity ratios of Tl and Au were investigated at 59.5 keV by measuring the L x-ray peaks at different angles. The vacancies were created by 59.5 keV γ rays from an 241Am source and L x-rays were measured using a Si(Li) detector. It is found that the Lγ and Lβ groups of L x-rays are isotropic, the Lι and Lα groups are anisotropic in the spatial distribution. We compared our results with theoretical values. © TÜBİTAK