A diagnostic dilemma for solid ovarian masses: the clinical and radiological aspects with differential diagnosis of 23 cases.

OBJECTIVE: This study aimed to analyze the clinical characteristics and diagnostic features of ovarian fibromatous masses. MATERIALS AND METHODS: The authors reviewed the records of 23 women who underwent laparotomic surgeries and whose final histopathological diagnoses were ovarian fibroma, cellular fibroma, or fibrothecoma from January 2005 to January 2013. The clinical, ultrasonographic, magnetic resonance imaging, tumor marker, therapeutic, and histologic data were analyzed. RESULTS: The mean age of the patients was 50.9 years. Sixteen patients were menopausal. The preoperative ultrasonography examination incorrectly diagnosed seven lesions as uterine fibromas, and the magnetic resonance imaging examination incorrectly labeled three lesions as pedunculated subserous uterine fibromas. The cancer antigen-125 levels of 17 cases were measured, with four being abnormal. Twenty-three patients underwent a laparotomy. Twenty patients underwent a total hysterectomy with bilateral salpingo-oophorectomy, and three underwent a tumorectomy. The histological diagnosis was fibrothecoma in 21 cases, fibroma in one case, and cellular fibroma in one case. Histopathologic examination of the endometrium of seven of the 20 patients who underwent hysterectomy revealed simple endometrial hyperplasia without atypia. CONCLUSION: Ovarian fibromas and fibrothecomas are often misdiagnosed as uterine fibromas and occasionally mistaken for malignant tumors of the ovary preoperatively. As these tumors originate from ovarian stroma, they may be hormone-active tumors. Therefore, they may lead to premalignant changes in the endometrium. The preoperative evaluation of the endometrium is recommended.

Degradation and toxicity assessment of the nonionic surfactant Triton™ X-45 by the peroxymonosulfate/UV-C process.

The degradation and mineralization of the nonionic surfactant octylphenol ethoxylate (OPEO), commercially known as Triton™ X-45, by the peroxymonosulfate (PMS)/UV-C process were investigated. Three different toxicity tests (Daphnia magna, Vibrio fischeri and Pseudokirchneriella subcapitata) as well as the Yeast Estrogen Screen (YES) bioassay were undertaken to evaluate the potential toxic and estrogenic effects of OPEO and its oxidation products. OPEO removal was very fast and complete after 7 min via PMS/UV-C treatment under the investigated reaction conditions (OPEO = 20 mg L(-1) (47 µM); TOC = 12 mg L(-1); PMS = 2.5 mM; initial reaction pH = 6.5; applied UV-C dose = 21 Wh L(-1)). TOC removal also proceeded rapidly; a gradual decrease was observed resulting in an overall TOC removal of 84%. The toxic responses of PMS/UV-C treated OPEO solutions varied according to the test organism used in the bioassay. Daphnia magna was found to be most sensitive to aqueous OPEO, whereas Pseudokirchneriella subcapitata appeared to be the least sensitive one. Daphnia magna and Vibrio fischeri tests revealed that the inhibitory effect of OPEO decreased significantly during the course of treatment. On the other hand, PMS/UV-C oxidation products exhibited a high toxic effect towards Pseudokirchneriella subcapitata (around 60%). YES test results underlined the need for improving the PMS/UV-C treatment performance to remove the estrogenic activity of OPEO and its oxidation products.

Endometrial pathology in postmenopausal women with no bleeding.

OBJECTIVE: The aim of this study was to determine the rate of unexpected uterine pathology in postmenopausal women admitted to a gynecology clinic with symptoms other than vaginal bleeding and who were scheduled to undergo hysterectomy. MATERIALS AND METHODS: We reviewed retrospectively the medical records of 283 postmenopausal patients who had gynecological surgery between September 2007 and January 2014. We reviewed their presenting symptoms on admission, the indications for surgery, and their transvaginal ultrasonographic findings. Postoperative histopathological results based on uterine specimens were also recorded. The results were analyzed statistically. RESULTS: Of 283 patients who had surgery, 209 had no vaginal bleeding at the time of admission. From this group, 75.6% were found to have unsuspected pathology, including endometrial hyperplasia, endometrial polyps, uterine fibroids, adenomyosis, and one case of endometrial carcinoma (0.5%). The remaining 74 patients had experienced postmenopausal bleeding and in 87.8% there were pathological findings including 13 cases (17.6%) of endometrial cancer (p = 0.0001). CONCLUSION: Vaginal bleeding in postmenopausal women is indicative of a wide array of gynecological pathologies, including endometrial carcinoma. However, uterine fibroids, pelvic masses, or even endometrial cancer may develop without co-morbid vaginal bleeding. Therefore we advocate that postmenopausal women should undergo yearly screening and consultation, without waiting for an episode of vaginal bleeding.

Bilateral Krukenberg tumor in a 16-week pregnant woman.

The authors present the case of a G2P1001 who presented in 16-week gestation with bilateral Krukenberg tumor, abdominal pain, and iterative vomiting episodes. Although a few cases of Krukenberg tumor in pregnant women have been reported, no case reports asymptomatic and free of disease at 18 months were found in the English literature. Early detection followed by surgery and chemotherapy during pregnancy could possibly result in a favorable outcome in such patients.

Diffusion-weighted imaging in the evaluation of hormonal cyclic changes in abdominal wall endometriomas.

AIM: To investigate the utility of diffusion-weighted (DW) magnetic resonance imaging (MRI) in the diagnosis of abdominal wall endometrioma (AWE) and to compare the ADC (apparent diffusion coefficient) values of AWE with those of the uterine endometrium during two different phases of the menstrual cycle. MATERIALS AND METHODS: A total of 22 women aged between 27 and 42 years (mean 32.8 years) and who had regular menstrual cycles were included in the study. These patients had a total of 25 AWE lesions. The mean and standard deviation of the ADC values of the normal endometrium/AWE were calculated for the menstrual and luteal phases. All examinations were performed using a 1.5 T magnet (b-values of 50, 400, and 800 mm/s(2)). The results were analysed using the Shapiro-Wilk test, the Pearson correlation test, the analysis of variance (ANOVA) test, and the paired sample t-test. RESULTS: The ADC values of the endometrium were different in the two phases of the menstrual cycle (menstrual phase: 0.924 ± 0.171; luteal phase: 1.171 ± 0.135). Similarly, the ADC values of the AWE were different in these phases (menstrual phase: 0.937 ± 0.256, luteal phase: 1.256 ± 0.215). In both AWE and the uterine endometrium, the ADC measurements were significantly lower in the menstrual phase than during the luteal phase. This difference was statistically significant (p < 0.05). There was no significant difference in the ADC values between the endometrial layer and AWE during the same phase (p = 0.216 for menstrual phase, p = 0.104 for luteal phase, paired sample t-test). CONCLUSION: The present study demonstrated that in all patients, the DWI features of AWEs were significantly similar to those of the uterine endometrial tissue. Additionally, the ADC measurements of the patients showed similar cyclical changes. These results suggest that the ADC values of a lesion close to the uterine endometrium may be used to differentiate AWE from the other disease entities of the abdominal wall.

The utility of multidetector computed tomography for evaluation of congenital heart disease.

BACKGROUND: Congenital heart diseases (CHD) are the leading cause of birth defect-related deaths. Multi detector computed tomography (MDCT) plays an important role for imaging CHD in addition to echocardiography and provides a comprehensive evaluation of complex heart malformations for the referring cardiologist. The aim of the study was to evaluate the utility of MDCT in the assessment of CHD. MATERIALS AND METHODS: A 102 patients with CHD were investigated after initial assessment by echocardiography. The information obtained by MDCT and findings of echocardiography were reviewed together by paediatric cardiologists and cardiac radiologists. Perioperative anatomic descriptions, wherever available(n = 34) formed the gold standard for the comparison. RESULTS: The clinical consensus diagnosis defined 154 cardiovascular lesions in the patients. The results were classified in groups. We present the appearance of various congenital cardiac lesions seen in clinical practice. CONCLUSIONS: MDCT provides important information about anatomic details of CHD for the referring cardiologist. The evaluation of different anatomic structures such as heart, great vessels, lungs and abdomen is possible in one acquisition with this technique.

Multidetector computed tomography findings of an asymptomatic levoatrial cardinal vein with an interatrial course.

A 57-year-old female patient with a family history of coronary artery disease admitted to our hospital for the coronary check-up. A coronary angiography was performed with ECG-gated 128 slice dual source computed tomography.Multidetector computed tomography (MDCT) showed, in addition to the normal coronary arteries, a persistent levoatrial cardinal vein (LCV) draining into vena cava superior. ECG-gated cardiac MDCT is a useful tool showing the origin, course, and drainage site of LCV.

The effects of chronic administration of sumatriptan and dipyrone on serotonergic system in the rat brain: an immunohistochemical study.

OBJECTIVE: To investigate the effects of chronic high dose sumatriptan and dipyrone treatment on central serotonergic system in rats. MATERIALS AND METHODS: Male Sprague-Dawley rats (seven per group) were daily injected with sumatriptan (3 mg/kg), dipyrone (400 mg/kg) or saline for 30 days. The brains of animals were surgically removed and immunohistochemically stained for serotonin. Serotonin-positive stained cells were counted automatically by using a computerized image analysis program. Statistical analysis carried out using one-way ANOVA followed by post hoc Tukey test. RESULTS: A significant decrease in serotonin-positive cells in the brainstem was observed after chronic sumatriptan administration while chronic use of dipyrone induced a significant increase in serotonin-positive cells both in the cortex and midbrain. CONCLUSION: Our data suggest that central serotonergic system might be modified by chronic use of sumatriptan and dipyrone.

Significant response of radiation induced CNS toxicity to high dose steroid administration.

Treatment of radiation myelopathy remains a challenge. Supportive and rehabilitative therapy is the mainstay of treatment. This article describes a case of central nervous system (CNS) toxicity of radiation with a progressive improvement in the clinicoradiological picture following high dose steroid treatment. A female patient was admitted to the neurology department of our hospital 7 months after a course of radiotherapy in another centre for lingual epidermoid cancer. Neurological examination revealed a heavy spastic quadriplegia syndrome. On MRI examination, T2 weighted hyperintensities were observed in cerebral and cerebellar peduncles, periventricular regions and medulla spinalis at Th1-Th2 levels. The patient was treated with high dose methylprednisolone, 1 g day(-1) for 5 days (pulse therapy) followed by oral methylprednisolone 80 mg day(-1) for a week, tapered over 3 weeks. Within the first week of pulse therapy, she regained muscle strength of upper limbs against gravity. At the 2 year follow-up, MRI demonstrated obvious regression of the lesions in the medulla and cerebellum with disappearance of contrast enhancement. This case report is notable with the complete disappearance of MRI lesions at the 2 year follow-up after the treatment with high dose steroid.

A case of bilateral carpal tunnel syndrome with palmaris longus and FDS anomalies.

We report a case of bilateral carpal tunnel syndrome due to two distinct muscular anomalies coexisting with trigger finger deformity. Many muscular anomalies in association with carpal tunnel syndrome have been described so far. But such a unique case of bilateral carpal tunnel syndrome with two different muscular anomalies, flexor digitorum superficialis anomaly on one side and palmaris longus anomaly on the other side has not been described. Even rare, muscular anomalies should be considered in the aetiology of carpal tunnel syndrome.

Epigenomics: genome-wide study of methylation phenomena.

Epigenetics is one of the key areas of future research that can elucidate how genomes work. It combines genetics and the environment to address complex biological systems such as the plasticity of our genome. While all nucleated human cells carry the same genome, they express different genes at different times. Much of this is governed by epigenetic changes resulting in differential methylation of our genome--or different epigenomes. Individual studies over the past decades have already established the involvement of DNA methylation in imprinting, gene regulation, chromatin structure, genome stability and disease, especially cancer. Now, in the wake of the Human Genome Project (HGP), epigenetic phenomena can be studied genome-wide and are giving rise to a new field, epigenomics. Here, we review the current and future potential of this field and introduce the pilot study towards the Human Epigenome Project (HEP).

Whisker-related neural patterns develop normally despite severe whisker defects in Msx2 knockout mice.

In mice, whiskers on the snout form a highly specialized tactile organ with exquisitely patterned neural representations in the brain. Targeted deletion of the Msx2 gene leads to severe craniofacial defects, and stubby, curly whiskers. We examined the whisker pad histology, innervation, and whisker-related pattern formation along the trigeminal pathway in Msx2 -/- mice. Although the whiskers are severely deformed, whisker follicle structure, pattern and density of innervation, as well as central neural patterns in the brainstem, thalamus, and cortex appeared normal. We conclude that whisker-related neural patterns can form in the absence of normal whiskers, as long as whisker follicle innervation is intact.

Musicogenic epilepsy with ictal single photon emission computed tomography (SPECT): could these cases contribute to our knowledge of music processing?

Musicogenic epilepsy has a strong correlation with the temporal lobe with a right-sided preponderance. We report the case of a 48-year-old woman whose seizures began at the age of 32 years. Her prenatal, natal and childhood histories were unremarkable and her family history was negative for epilepsy. She had typical complex partial seizures with chewing automatisms. Cranial computed tomography, magnetic resonance imaging (MRI) and interictal SPECT showed no abnormality. Interictal EEG showed paroxysmal bitemporal sharp wave discharges predominant on the right side. Ictal EEG showed a combination of high voltage sharp and slow sharp waves and spikes that originated from the right temporal leads and then became generalized. Ictal activity on EEG started 4-5 min after the music stimulus. For the ictal SPECT study, i.v. injection of 20 mCi of HMPAO was administered approximately 30 s after the ictal activity started. Ictal SPECT demonstrated a right anterior and mesial temporal hyperperfusion. These results seem to support the dominant role of the right temporal lobe and the possible relation of mesial temporal structures to the affective content of music in musicogenic epilepsy.

Chronic inflammatory bowel disease in a patient with common variable immunodeficiency.

Common variable immunodeficiency (CVID) is a primary defect of the immune system involving an increased risk of respiratory and digestive tract infections and autoimmune diseases. Recently, it has been reported that chronic inflammatory bowel disease (CIBD) might occur with increased frequency (20%) in patients with CVID. A nine-year-old boy with CVID developed CIBD during follow-up and periodic intravenous immunoglobulin administration. Serum tumor necrosis factor-a concentration, which is suggested to show disease activity in CBD, was very high. The patient's radiological evaluation, both in active and remission periods, had characteristic features of CBD. We herewith present and discuss this case with both diseases, CVID and CIBD.

Cognitive and behavioral profile of fragile X boys: correlations to molecular data.

Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is associated with transcriptional silencing of the FMR1 gene. The lack of FMR1 protein is believed to be responsible for the typical physical and mental characteristics of the syndrome. To analyze the specific phenotype of that syndrome as well as possible associations between the phenotype and the genotype, we examined a group of 49 fragile X boys and a control group of 16 patients with tuberous sclerosis. To determine the cognitive and behavioral phenotype, the Kaufman Assessment Battery for Children (K-ABC), the Child Behavior Checklist (4/18), and a structured psychiatric interview (Kinder DIPS) were used. The genotype was analyzed by the Southern blot method. The phenotype of boys with FXS is characterized by a specific cognitive profile with strengths in acquired knowledge and in simultaneous processing. The psychiatric comorbidity is high and ADHD (attention deficit hyperactivity disorder), oppositional defiant disorder, enuresis, and encopresis predominate. In a group of 24 fragile X boys, no significant correlations between the specific aspects of the phenotype and the genotype were found.

Methylation mosaicism of 5'-(CGG)(n)-3' repeats in fragile X, premutation and normal individuals.

Fragile X syndrome (FRAXA) is characterized at the molecular level by an expansion of a naturally occurring 5'-(CGG)(n)-3' repeat in the promoter and 5'-untranslated region (5'-UTR) of the fragile X mental retardation (FMR1) gene on human chromosome Xq27.3. When expanded, this region is usually hypermethylated. Inactivation of the FMR1 promoter and absence of the FMR1 protein are the likely cause of the syndrome. By using the bisulfite protocol of the genomic sequencing method, we have determined the methylation patterns in this region on single chromosomes of healthy individuals and of selected premutation carriers and FRAXA patients. In control experiments with unmethylated or M- Sss I-premethylated DNAs, this protocol has been ascertained to reliably detect all cytidines or 5-methylcytidines as unmethylated or methylated nucleotides, respectively. Analyses of the DNA from FRAXA patients reveal considerable variability in the lengths of the 5'-(CGG)(n)-3' repeats and in the levels of methylation in the repeat and the 5'-UTR. In one patient (OEl) with high repeat length hetero-geneity ( n = 15 to >200), shorter repeats (n = 20-80) were methylated or unmethylated, longer repeats ( n = 100-150) were often completely methylated, but one repeat with n = 160 proved to be completely unmethylated. This type of methylation mosaicism was observed in several FRAXA patients. In healthy females, methylated 5'-CG-3' sequences were found in some repeats and 5'-UTRs, as expected for the sequences from one of the X chromosomes. The natural FMR1 promoter is methylation sensitive, as demonstrated by the loss of activity in transfection experiments using the unmethylated or M- Sss I-premethylated FMR1 promoter fused to the luciferase gene as an activity indicator.

Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene.

The autonomous expansion of the unstable 5'-d(CGG)n-3' repeat in the 5'-untranslated region of the human FMR1 gene leads to the fragile X syndrome, one of the most frequent causes of mental retardation in human males. We have recently described the isolation of a protein p20-CGGBP that binds sequence-specifically to the double-stranded trinucleotide repeat 5'-d(CGG)-3' (Deissler, H., Behn-Krappa, A., and Doerfler, W. (1996) J. Biol. Chem. 271, 4327-4334). We demonstrate now that the p20-CGGBP can also bind to an interrupted repeat sequence. Peptide sequence tags of p20-CGGBP obtained by nanoelectrospray mass spectrometry were screened against an expressed sequence tag data base, retrieving a clone that contained the full-length coding sequence for p20-CGGBP. A bacterially expressed fusion protein p20-CGGBP-6xHis exhibits a binding pattern to the double-stranded 5'-d(CGG)n-3' repeat similar to that of the authentic p20-CGGBP. This novel protein lacks any overall homology to other known proteins but carries a putative nuclear localization signal. The p20-CGGBP gene is conserved among mammals but shows no homology to non-vertebrate species. The gene encoding the sequence for the new protein has been mapped to human chromosome 3.

Severe acute thinner intoxication.

Thinner which contains aromatic hydrocarbons such as xylene, toluene and N-hexane is widely used in industrial plants manufacturing dyes, plastic, varnishes and glues. Chronic intoxication due to abuse of solvents, including thinner, by workers who inhale the solvent vapor is frequently encountered. Acute intoxication with ingestion of excessive amounts is relatively rare and usually fatal. It is reported that 45-50 ml of orally ingested thinner is enough to cause severe complications. The case reported here was forced to drink 200 ml of thinner by an older friend, and presented with severe complications such as rhabdomyolysis, polyneuropathy, chemical pneumonia and coma. To the best of our knowledge this is the first case reported in the literature to survive acute thinner intoxication with such complications.