[Molecular pathology of meningiomas]
MURNYÁK Balázs, CSONKA Tamás, HORTOBÁGYI Tibor
SEPTEMBER 30, 2015
Clinical Neuroscience - 2015;68(09-10)
MURNYÁK Balázs, CSONKA Tamás, HORTOBÁGYI Tibor
SEPTEMBER 30, 2015
Clinical Neuroscience - 2015;68(09-10)
[Meningiomas represent nearly one-third of all adult primary brain tumours. According to their clinical and histologic appearance, they can be divided into WHO grades I-III. Almost 90% of meningiomas are benign, showing favourable response to conventional therapies, however, patients diagnosed with grade 2 and 3 tumours may have a poor prognosis. In addition, high frequency of tumour recurrence renders treatments more challenging even in benign meningiomas. Molecular-pathological profiling of meningiomas could lead to development of more effective therapies. Although the cytogenetic background of these tumours are already wellcharacterised, the majority of related genes and mutations is still unknown. Recently, high-throughput techniques enabled better characterisation of mechanisms involved in meningioma development, progression and recurrence. Furthermore, epigenetic dysregulation could offer new opportunities for both diagnosis and treatment of meningiomas. We provide a comprehensive overview of cytogenetic and molecular genetic defects as well as epigenetic alterations in meningiomas. Many of these may serve as biomarker or therapeutic target in the near future.]
Background - To assess the prevalence and severity of RLS in psoriasis patients and to investigate its effects on sleep and quality of life. Methods - Seventy patients with psoriasis in Trakya University Medical Faculty Dermatology Department and also applied to Neurology Department in the same center and 70 volunteer controls were enrolled in the study. Severity of the Restless Legs Syndrome (RLS) was determined using International Restless Legs Syndrome Study Group (IRLSSG) criteria among the patients who have been diagnosed with RLS based on IRLSSG criteria. The presence of insomnia in patients was detected using International Classification of Sleep Disorders (ICSD-II) criteria. Additionally, to evaluate the severity of the disease and quality of life, Psoriasis Area Severity Index (PASI) and Dermatology Life Quality Index (DLQI) tests were applied to the patients with psoriasis. Results - RLS frequency in patients with psoriasis was 28 (40%) compared to the control group 10 (14.2%), and the difference was statistically significant (p<0.001). IRLSSG severity scores were higher in patients with psoriasis who had insomnia secondary to RLS compared to those who did not have insomnia (p<0.001). The mean values of PASI were 7.54±6.52 in the presence of insomnia and 3.27±2.69 in the absence of insomnia. The difference was statistically significant (p<0.001). No significant difference was found in DLQI scores between patients with RLS and without RLS or between patients with and without insomnia (p>0.05). Discussions - RLS frequency in patients with psoriasis was significantly higher than in the control group. In addition, we found that RLS is more common but RLS severity was mildly high in patients with psoriasis relative to controls. However, there was a correlation between the increase in severity of RLS with secondary insomnia patients who were diagnosed with RLS. It may be beneficial to consider RLS and insomnia for each patient diagnosed with psoriasis.
Background and purpose - The differentiation of epidermoid cysts from other intracranial lesions with CT and conventional MR imaging is challenging. The risk of residual and recurrent disease is high and multimodal imaging should therefore promote a precise differential diagnosis. Since epidermoid cysts are histologically identical to middle ear cholesteatomas, MRI methods that are useful in the diagnosis of cholesteatoma; specifically EPI DWI and a non- EPI diffusion subtype (HASTE DWI) may possibly be applicable to epidermoid cysts. Besides testing the diagnostic utility of these methods on epidermoid cysts, our goal was to quantify the T1 and T2 relaxation times, the ADC values and the magnetization transfer ratios in order to acquire objective, characteristic information about their structure and contents. Finally, our goal was to provide the physician with a reliable, multimodal diagnostic tool that supports accurate surgical planning. Methods - Two patients with epidermoid cysts were examined. Besides the conventional MR scans EPI DWI, HASTE DWI, quantitative T1, T2 and magnetization transfer measurements were performed mappingwith a 3T MR scanner. After image registration, T1, T2 relaxation times and the magnetization transfer ratio inside a ROI were determined according to the lesion location on HASTE DWI. Mean ADC values inside the epidermoid cysts were also calculated by both mono-exponential and bi-exponential diffusion models. Results - Our results revealed relatively high T1 and T2 relaxation times and ADC values, and low magnetization transfer ratios in both subjects. Conclusion - HASTE-DW MRI provides accurate morphologic information on epidermoid cysts, while T1, T2, ADC and magnetization transfer ratio maps are quantitative techniques. Thus the combination of these methods results in a confident preoperative diagnosis and aids to determine the indication of retreatment in the event of recurrence.
Background - Our aim was to translate the Quality of Life in Essential Tremor Questionnaire (QUEST) advanced by Troster (2005) and to analyse the validity and reliability of this questionnaire. Methods - Two hundred twelve consecutive patients with essential tremor (ET) and forty-three control subjects were included in the study. Permission for the translation and validation of the QUEST scale was obtained. The translation was performed according to the guidelines provided by the publisher. After the translation, the final version of the scale was administered to both groups to determine its reliability and validity. Results - The QUEST Physical, Psychosocial, communication, Hobbies/leisure and Work/finance scores were 0.967, 0.968, 0.933, 0.964 and 0.925, respectively. There were good correlations between each of the QUEST scores that were indicative of good internal consistency. Additionally, we observed that all of the QUEST scores were most strongly related to the right and left arms (p=0.0001). However, we observed that all of the QUEST scores were weakly related to the voice, head and right leg (p=0.0001). Discussion - These findings support the notion that the Turkish version of the Quality of Life in Essential Tremor (QUEST) questionnaire is a valid and reliable tool for the assessment of the quality of life of patients with ET.
Background and purpose - There is a lack of data on the impact on health related quality of life of peripheral neuropathic pain in Hungary. The main aims of the study were to assess the health related quality of life of nondiabetic PeNP patients identified in general practices through screening, and to assess the relationship between condition specific pain scores and health state utilities. Methods - Non-diabetic patients aged ≥30 years were recruited in 10 general practices in Hungary. At first, patients filled in the PainDETECT Questionnaire (PD-Q) and those who have achieved ≥13 PD-Q score (unclear or possible neuropathic pain) were further assessed by the DN4 questionnaire. Patients with PD-Q score >18 or DN4 score ≥4 were considered to have PeNP and they completed the EQ-5D health questionnaire. Results - Among the 111 patients identified as non-diabetic PeNP patients the mean age was 62 (SD=14) years, 69% were women. Average EQ-5D score was 44% lower than the gender and age matched Hungarian norm (0.42 vs. 0.75, p<0.001) and it worsened with increasing pain intensity. The pain/discomfort and anxiety/depression were the most affected EQ-5D dimensions. Strong relationship was demonstrated between the PD-Q and EQ- 5D score. Most of the PeNP patients (86%) were undiagnosed. Conclusions - Non-diabetic PeNP pain has a huge negative impact on health related quality of life. Although PeNP is a serious chronic condition, the disease burden is seriously underestimated, both on the level of individuals and society, due to the fact that patients are rarely identified.
[The classic anterior (frontal) opercular syndrome (Foix- Chavany-Marie sy.) is a cortical pseudobulbar palsy mainly due to bilateral lesions of anterior brain operculum. In 2000 the authors had a 70-year old female patient with acute onset of swallowing and speaking difficulty. Neurological examination established a left facial central palsy, the palsy of the tongue and the soft palate, dysarthry, difficulty in chewing with left side hemiparesis. The CT scan showed a right side (one-sided) frontal opercular ischemic lesion. This event switched their attention especially to this group of cases and subsequently the authors collected 12 patients with these symptoms. Authors discuss the patomechanism of transient pseudobulbar palsy that occurs due to unilateral opercular lesion that the diaschisis effect might explain.]
[Although follicular lymphoma is the most frequent non-Hodgkin’s lymphoma with an indolent clinical course, it is a rare disease. Patients with FL are characterized with a long survival with a relatively good quality of life, however using the current standard chemo-immunotherapy, the disease is considered incurable. The increasing knowledge of the molecular genetic background of the disease and the role of the reactive microenvironment lead to a better understanding of the pathogenesis of follicular lymphoma. Furthermore, the detailed functional characterization of the various cell surface antigens and deciphering the complex network of signaling pathways catalyzed the development of a number of novel targeted therapies (monoclonal antibodies, kinase- and NFκB-inhibitors), while understanding the effects of the cell surface receptors of cytotoxic T-cells initiated development of the monoclonal checkpoint inhibitors. The epigenetic therapies represent a novel therapeutic area with methyltransferase inhibitors demonstrating the most favorable results. Among the novel therapies, the immunomodulatory lenalidomide appears as the most promising and most effective drug, which acts via regulating the microenvironment, and in combination with rituximab in fi rst line setting it demonstrated similar effi cacy to the current standard protocols. Indeed, the rational use of the novel data and drugs paves the way towards personalized and targeted therapies for FL, resulting in more effective treatment and further improvement in patients’ survival, with a very long disease-free survival representing cure.]
Hypertension and nephrology
[Childhood steroid-resistant nephrotic syndrome (SRNS) is a devastating clinical condition which progresses to end-stage renal disease in 30-40% of the cases after a follow up of 10 years. Based on its etiology, two forms can be distinguished, an immune and a genetic form. During the last two decades, mutations of ten genes - encoding mainly podocyte proteins - were identified in the latter group. As the treatment in the immune and genetic forms are different, and only the identification of the causative mutation can reliably distinguish them, it is important to be familiarized with the genotype-phenotype correlations. The aim of the present review is to summarize our current knowledge on the phenotypes linked to the identified genes.]
[The effects of thyroid hormones on bone tissue are of fundamental importance.They are required for skeletal development and later for normal bone metabolism.Their action is dose-dependent and also depends on the degree of differentiation of the target tissue. In childhood, thyroid hypofunction manifests itself in growth retardation, whereas hyperfunction will accelerate bone maturation.The exact mechanism of action of thyroid hormones on bone in later years is poorly understood, and their clinical relevance on the risk of bone fracture, the most important complication, is also unclear. In adults with hypothyroidism, bone mineral density (BMD) remains unchanged or even becomes increased, but the risk of fractures is elevated. In hyperthyroidism the bone turnover is increased, which may lead to a decrease in BMD and a higher risk of fracture. However, the results are inconsistent for endogenous subclinical hyperthyroidism, where BMD may also decrease and fractures may occur more frequently.Treatment of hypothyroidism may temporarily result in increased fragility but this phenomenon seems to be only transient. During L-T4 replacement therapy the TSH level should be kept in the normal range, while with suppression, it should be set to the lower end of the normal range. During treatment of hyperthyroidism BMD temporarily increases and the risk of fractures decreases.The most effective way of preventing osteoporosis and bone fractures in all cases is the early recognition and treatment of thyroid diseases.The presence of other osteoporosis risk factors should always be considered. In some cases adjuvant therapy may be necessary to stop bone loss.]
Secretory meningioma is a rare form of meningiomas which differentiates from the meningothelial subtype. It is characterized by significant peritumor edema and distinct immunohistochemical and molecular genetic profiles. We present a middle aged female patient with secretory meningioma infiltrating the orbital bone from the primary cranial base location and causing exophthalmos, features rarely described with this tumor. Surgical resection was challenging because of the associated brain swelling and rich vascularization of the tumor. Imaging and immunohistochemical studies revealed characteristic hallmarks of secretory meningioma. While histologically it was a benign tumor, due to the orbital bone and soft tissue infiltration, postoperative management of neurological sequelae was challenging. This case highlights distinctive clinical, imaging and histological features along with individual characteristics of a rare form of meningiomas.
Lege Artis Medicinae
[Besides its effect on the uterus and breasts, oxytocin also regulates affiliative behaviour. The so-called central oxytocin effect influences pair bonding, maternal care and attachment through the regulatory functions of oxytocin that acts as a neurotransmitter within the brain. The central oxytocin effect increases trust and social support, decreases fear and anxiety, and promotes wound healing. These effects form the basis of the stress-triggered, oxytocin-based ‘calm and connection’ reaction. Some methods that are widely used in modern obstretric practice - such as the use of synthetic oxytocin for inducing or speeding up labour or epidural anaesthesia - hinder the psycho-emotive effects that are based on natural oxytocin. Epigenetic studies performed in animals indicate that the oxytocin effect experienced at birth can be transgenerational.]
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