The diagnostic performance of antimullerian hormone for polycystic ovarian syndrome and polycystic ovarian morphology.

PURPOSE: The diagnosis of polycystic ovary syndrome (PCOS) remains a challenge to clinicians due to heterogeneous clinical presentation and diagnostic criteria. This study investigated the utilization of Anti-Müllerian hormone (AMH) alone or replacing polycystic ovarian morphology (PCOM) in the PCOS diagnostic criteria. METHODS: A total of 401 women were categorised as PCOS (n:154), nonPCOS with polycystic ovarian morphology (PCOM) (n:105), and nonPCOS with normal ovarian morphology (NOM) (n:142). First, the diagnostic performance of AMH for PCOS diagnosis in Rotterdam, Androgen Excess Society, and National Institutes of Health (NIH) criteria was analyzed. Second, AMH was used instead of PCOM in Rotterdam criteria and we searched diagnostic performance for PCOS phenotypes. RESULTS: AMH levels were positively correlated with LH, testosterone, hirsutism score, menstrual cycle length, and antral follicle count (p < 0.05). AMH alone had specificity and sensitivity for PCOS diagnosis were 84.9% and 72.4% in Rotterdam (AUC: 0.866); 84.4% and 72% in Androgen Excess Society (AUC: 0.857); 83.3% and 66.4% in National Institute of Health criteria (AUC: 0.825). AMH alone had satisfactory diagnostic potential for phenotype A, but not other phenotypes. The replacement of PCOM with AMH in Rotterdam criteria had a high diagnostic potential for PCOS (AUC: 0.934, sensitivity:97.4%, specificity: 90.67%). Phenotype A and phenotype D were diagnosed with 100% sensitivity and 94.5% specificity. Phenotype C was recognised with 96.15% sensitivity and 94.5% specificity. CONCLUSION: AMH may be used with high diagnostic accuracy instead of PCOM in the Rotterdam PCOS criteria.

Cell-lineage controlled epigenetic regulation in glioblastoma stem cells determines functionally distinct subgroups and predicts patient survival.

There is ample support for developmental regulation of glioblastoma stem cells. To examine how cell lineage controls glioblastoma stem cell function, we present a cross-species epigenome analysis of mouse and human glioblastoma stem cells. We analyze and compare the chromatin-accessibility landscape of nine mouse glioblastoma stem cell cultures of three defined origins and 60 patient-derived glioblastoma stem cell cultures by assay for transposase-accessible chromatin using sequencing. This separates the mouse cultures according to cell of origin and identifies three human glioblastoma stem cell clusters that show overlapping characteristics with each of the mouse groups, and a distribution along an axis of proneural to mesenchymal phenotypes. The epigenetic-based human glioblastoma stem cell clusters display distinct functional properties and can separate patient survival. Cross-species analyses reveals conserved epigenetic regulation of mouse and human glioblastoma stem cells. We conclude that epigenetic control of glioblastoma stem cells primarily is dictated by developmental origin which impacts clinically relevant glioblastoma stem cell properties and patient survival.

FACT-seq: profiling histone modifications in formalin-fixed paraffin-embedded samples with low cell numbers.

The majority of biopsies in both basic research and translational cancer studies are preserved in the format of archived formalin-fixed paraffin-embedded (FFPE) samples. Profiling histone modifications in archived FFPE tissues is critically important to understand gene regulation in human disease. The required input for current genome-wide histone modification profiling studies from FFPE samples is either 10-20 tissue sections or whole tissue blocks, which prevents better resolved analyses. But it is desirable to consume a minimal amount of FFPE tissue sections in the analysis as clinical tissues of interest are limited. Here, we present FFPE tissue with antibody-guided chromatin tagmentation with sequencing (FACT-seq), the first highly sensitive method to efficiently profile histone modifications in FFPE tissues by combining a novel fusion protein of hyperactive Tn5 transposase and protein A (T7-pA-Tn5) transposition and T7 in vitro transcription. FACT-seq generates high-quality chromatin profiles from different histone modifications with low number of FFPE nuclei. We proved a very small piece of FFPE tissue section containing ∼4000 nuclei is sufficient to decode H3K27ac modifications with FACT-seq. H3K27ac FACT-seq revealed disease-specific super enhancers in the archived FFPE human colorectal and human glioblastoma cancer tissue. In summary, FACT-seq allows decoding the histone modifications in archival FFPE tissues with high sensitivity and help researchers to better understand epigenetic regulation in cancer and human disease.

Long-term electrophysiological assessment after hypoglossal-facial anastomosis.

PURPOSE: To investigate and provide objective documentation of the possible differences in the axonal reinnervation process of facial muscles after hypoglossal-facial nerve anastomosis. Then, to search for the presence of the trigemino-hypoglossal reflex and determine whether it indicates better peripheral recovery. METHODS: Electrophysiological examination performed on 20 patients who had undergone VII-XII anastomosis, with follow-up periods of more than 2 years. RESULTS: The mean follow-up time after surgery was 4.1 ± 1.3 years (range 2-8 years). The degrees of axonal reinnervation for the orbicularis oculi (OOc) and orbicularis oris (OOr) were 46.91 ± 19.77 and 32.65 ± 14.85, respectively. And the difference between these muscles was statistically significant (p = 0.018) in favor of the OOc. In addition, R1 blink reflexes that were not followed by R2 components were observed in 30% of the patients. However, these 6 patients with short-latency potential did not differ from the others in terms of latency, the amplitude of compound muscle action potential (CMAP), and degree of axonal reinnervation (p > 0.05) at both muscles (OOc and OOr). CONCLUSION: The recoveries of the lower face and upper face are different after VII-XII anastomosis, and in our patients the OOc healed better. In addition, R1 blink reflexes that were not followed by R2 components were observed in 30% of the patients. However, the patients with these blink reflexes did not have better peripheral healing in their neuromuscular units, which suggests that the blink reflex is not an indicator for peripheral recovery.

An evaluation of lateralizing signs in patients with temporal lobe epilepsy.

Resective epilepsy surgery has been accepted as an effective treatment for patients with medically intractable temporal lobe epilepsy (TLE) to control the seizures and to limit cognitive dysfunction. Complete resection of the epileptic zone, and therefore the success of the surgery, depends on the identification of the seizure focus. Reliable lateralizing semiologic signs, together with other presurgical assessments, are of great importance for an accurate identification of the seizure focus. In this respect, this study evaluated the frequency of semiologic signs in medically intractable temporal lobe epilepsy (TLE) together with the lateralizing values and variations according to the age and gender groups. Two hundred seventy-three seizures of 55 patients of the Adult Epilepsy Monitoring Unit of Gazi University Faculty of Medicine with the diagnosis of medically intractable TLE, whose epileptic foci were detected through noninvasive presurgical procedures and seizures were controlled successfully after anterior temporal lobectomy (ATL), were analyzed retrospectively. Seizure semiologies of the patients were evaluated in terms of lateralizing values, and it was inquired whether age/gender causes any variation. Versive head rotation, unilateral dystonic limb posturing, asymmetric tonic limb posturing, and the combination of unilateral hand automatisms and dystonic posturing were determined as the semiologic signs with the highest lateralizing values (90-100%). While hand automatisms were observed frequently in the group with early seizure-onset age (onset age ≤ 2), asymmetric tonic limb posturing was detected as more frequent in the group with later seizure-onset age (onset age > 2; p < .005). In addition to this, semiologic signs were noted to be different between male and female groups; psychic and autonomic auras and ictal emotional signs were associated with women (p < .005).