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Erdheim-Chester disease is a rare, non-Langerhans form of systemic histiocytosis of unknown etiology. The disease affects multiple organ systems, including musculoskeletal, cardiac, pulmonary, gastrointestinal, and central nervous systems, producing protean manifestations. Neurological manifestations are less frequent. We present a 44-year-old patient with Erdheim-Chester disease who had bilateral carotid artery occlusion and cavernous sinus infiltration.

BACKGROUND: there has been an increased incidence of macrosomic newborns in the world and most of the macrosomic newborns are born from non-GDM pregnant women. The objective of this study was to determine the frequency and the associated risk factors of fetal macrosomia in non-GDM pregnant women. METHODS: a total 4246 consequtive pregnant women who had no GDM was included the study population. Data was collected from hospital database of Bal?kesir State Hospital between January 2014 and January 2015. Statistical analysis was carried out using the independent samples t-test and chi-squared test. Logistic regression analysis was used to determine the relationships between associated risk factors and the presence of fetal macrosomia. In this analysis, fetal macrosomia was taken as the dependent variable and associated risk factors were taken as independent variables. Results are shown as odds ratios (ORs) (95% CI) in the logistic regression analysis. RESULTS: 366 of the 4246 pregnant women were diagnosed with fetal macrosomia (8.6%). Compared the control women, a statistically significant correlation between fetal macrosomia and pre-pregnancy body mass index (BMI), gestational weight gain (GWG), parity, advanced maternal age, and male fetal sex was found. Maternal BMI, and GWG were the two risk factors most strongly associated with macrosomia. CONCLUSION: the prevalance of fetal macrosomia is rising among Turkish women. High pre-pregnancy BMI and GWG represent main modifiable risk factors for macrosomia and need more attention from health care providers.

Fibrous dysplasia (FD) is a progressive systemic bone tumour of young and it can be seen on cranial bones. FD is divided into three types according to radiological features. The second most common subtype is polyostotic subtype. With this article, we aimed to review and present clinical features, radiological examination, differential diagnosis and treatment management of a case of solitary monostotic fibrous dysplasia of occipital bone. 15 years old female patient admitted to our hospital for a bump and in the back of his head that she noticed 1 month ago. Her physical and neurological examination was normal. On cranial CT examination we detected a bony defect. Her gadolinium enhanced cranial MRI revealed bony defect along with massive gadolinium enhancement in adjacent tissue. On histopathologic examination; PANCK, CD68, CD1a were found negative and CD45, S-100, Vimentine were found positive. Ki-67 was 4,8%. In conclusion, fibrous dysplasia is a progressive bone disease of the young patients. Despite its resemblance to a benign lesion by not being symptomatic it can progress and cause severe bony defects and skin lesions. Total surgical resection is necessary and sufficient for total treatment.

Objective. Breast cancer accounts for approximately one-third of all cancers in females. Approximately 8.5 % of all central nervous system metastases are located in the spinal cord. These patients have rapidly progressing neurological deficits and require immediate examination. The aim of surgery is decompression of neural tissue and histological evaluation of the tumor. In this paper, we present a case of breast cancer metastasis in thoracic spinal intramedullary area which had been partially excised and then given adjuvant radiotherapy. Case. A 43-year-old female patient with breast cancer for 8 years was admitted to our hospital with complaints of weakness in both legs. Eight years ago, she received chemotherapy and radiotherapy. On her neurological examination, she had paraparesis (left lower extremity: 2/5, right lower extremity: 3/5) and urinary incontinence. Spinal MRI revealed a gadolinium enhancing intramedullary lesion. Pathologic examination of the lesion was consistent with breast carcinoma metastasis. The patient has been taken into radiotherapy. Conclusion. Spinal intramedullary metastasis of breast cancer is an extremely rare situation, but it has a high morbidity and mortality rate. Microsurgical resection is necessary for preservation or amelioration of neurological state and also for increased life expectancy and quality.

Whole-genome copy number analysis platforms, such as array comparative genomic hybridization (aCGH) and single nucleotide polymorphism (SNP) arrays, are transformative research discovery tools. In cancer, the identification of genomic aberrations with these approaches has generated important diagnostic and prognostic markers, and critical therapeutic targets. While robust for basic research studies, reliable whole-genome copy number analysis has been unsuccessful in routine clinical practice due to a number of technical limitations. Most important, aCGH results have been suboptimal because of the poor integrity of DNA derived from formalin-fixed paraffin-embedded (FFPE) tissues. Using self-hybridizations of a single DNA sample we observed that aCGH performance is significantly improved by accurate DNA size determination and the matching of test and reference DNA samples so that both possess similar fragment sizes. Based on this observation, we developed a novel DNA fragmentation simulation method (FSM) that allows customized tailoring of the fragment sizes of test and reference samples, thereby lowering array failure rates. To validate our methods, we combined FSM with Universal Linkage System (ULS) labeling to study a cohort of 200 tumor samples using Agilent 1 M feature arrays. Results from FFPE samples were equivalent to results from fresh samples and those available through the glioblastoma Cancer Genome Atlas (TCGA). This study demonstrates that rigorous control of DNA fragment size improves aCGH performance. This methodological advance will permit the routine analysis of FFPE tumor samples for clinical trials and in daily clinical practice.