[The role of epigenetic regulations in early childhood diseases]
SEPTEMBER 30, 2019
Clinical Neuroscience - 2019;72(09-10)
SEPTEMBER 30, 2019
Clinical Neuroscience - 2019;72(09-10)
[With the acceptance of “The developmental origins of health and disease” concept in the 1990s, it became clear that epigenetic inheritance, which do not involve changes in the DNA sequence has important role in the pathogenesis of diseases. Epigenetic regulation serves the adaptation to the changing environment and maintains the reproductive fitness even on the drawback of increased risk of diseases in later life. The role of epigenetic mechanisms in chronic non-communicable diseases has been well established. Recent studies have revealed that epigenetic changes have also causal role in certain pediatric diseases. The review evaluates the recent epigenetic findings in the pathomechanism of common pediatric diseases. The wide range and long-lasting duration of epigenetic regulations give importance to the subject. Methods are already available to evaluate a part of the epigenetic changes in the clinical practice, presently aiming primarily the estimation of the disease risk or definition of diagnosis. Furthermore, there are already available limited means to influence the epigenetic regulation. ]
[Gait disturbance is a major symptom in patients with multiple sclerosis. The Expanded Disability Status Scale (EDSS) was first used in clinical trials of multiple sclerosis for the assessment of disability, however it has become more and more widely used in clinical practice as well. Nowadays its use is essential in application of the new diagnostic criteria, the new clinical form classification and in monitoring the efficacy of therapies. EDSS is based on a standardised neurological examination, but focuses on those symptoms that are frequent in multiple sclerosis. Based on the examination it assesses seven functional systems: visual, brainstem, pyramidal, cerebellar, sensory, bowel-bladder and cerebral functions. EDSS scores can be determined based on the scores given in the functional systems and on testing the walking distance. In newer versions the “Ambulation score” has been added. This chapter clarifies the scores based on the maximal walking distance and the need for a walking aid to walk this distance. The Neurostatus/EDSS training method improves the reproducibility of the standardised neurological examination that forms the basis of the EDSS scoring. Of the tests assessing walking, the Timed-25 Foot Walk Test and the self-administered 12-Item Multiple Sclerosis Walking Scale are suitable for routine evaluation of walking performance. An increase of more than 20% in the Timed-25 Foot Walk may be considered a significant change in gait. ]
Neurofibromatosis type 1 (NF-1; also known as Von Recklinghausen’s disease) is a common autosomal dominant disease that occurs in the general population at the rate of 1 in 3000. Many NF-1 patients present with spinal malformations. A 54-year-old female patient was admitted to the Outpatient Clinic of Dermatology with gradually increasing swelling and spots on the body that had been present for a long period of time. Cervical vertebral scalloping, pedicle deficiencies and dural ectasia (DE) were also detected. She was diagnosed with NF-1. NF-1 is routinely seen in dermatology practice. Coexistence of NF-1 with vertebral scalloping, pedicle deficiencies and DE rarely occurs. Our case is the second reported instance in the literature of NF-1 with a spinal anomaly in the cervical region, and the first reported instance of the coexistence of NF-1 with cervical vertebral scalloping, pedicle deficiencies and DE.
[Despite of the symptoms of vertigo have been known since thousands of years, it was evident by the research of the pioneer scientists of the 19th century (Flourens, Ménière, Breuer and others) that dizziness can also be attributed to inner ear disfunctions. The discovery of the vestibulo-ocular reflex was an important milestone (Endre Hőgyes, 1884). The vestibulo-ocular reflex stabilizes images on the retina by rotating the eyes at the same speed but in the opposite direction of head motion. The milestone discovery of Hőgyes by stimulating individual labyrinth receptors and recording the activity of eye muscles were verified by János Szentágothai in 1950. Low-frequency lesions of the angular vestibulo-ocular reflex can be investigated by caloric test (Robert Bárány,1906), high-frequency lesions by head impulse test (Gabor Michael Halmagyi and Ian Stewart Curthoys, 1988).]
Purpose - To understand if children with and without cerebral palsy share the same lumbar postural control threshold on the sagittal plane for the transition between each walking locomotor stage. Method - Observational analysis of sagittal trunk-pelvis kinematics of 97 children with cerebral palsy and 73 with typical development, according to their locomotor stage. Results - Among children with typical development, all average and minimum measurements of the sagittal lumbar curve during the gait events were correlated with age and the locomotor stages of development. Among children with cerebral palsy, there were significant correlations between all average and minimum values of the sagittal lumbar curve and locomotor stages of development but not age. Conclusions - We conclude that, for the same locomotor level, there are no common postural patterns between children with typical development and those with spastic bilateral cerebral palsy for the position between trunk and pelvis in the sagittal plane. Maximal lordosis reduction between trunk and pelvis may change with age or even training, but does not make a positive effect on the locomotor level, while basal and maintenance capacities could explain locomotor function. Trials that failed to assess quality of movement may now have a better understanding of how different interventions improve posture towards the next functional level.
Drop foot is defined as difficulty of dorsiflexion of the foot and ankle due to weak anterior tibial, extensor hallucis longus and extensor digitorum longus muscles. Cauda equina syndrome, local peroneal nerve damage due to trauma, nerve entrapment, compartment syndrome and tumors are common etiologies. A 32-year-old male patient was applied with difficulty in dorsiflexion of both of his toes, feet and ankles after he had squatted in toilette for 6-7 hours (because of his haemorrhoid) after intense alcohol intake 2 weeks before. Acute, partial, demyelinating lesion in head of fibula segment of peroneal nerves was diagnosed by electromyography. This case was reported since prolonged squatting is an extremely rare cause of acute bilateral peroneal neuropathy. This type of neuropathy is mostly demyelination and has good prognosis with physical therapy and mechanical devices, but surgical intervention may be required due to axonal damage. People such as workers and farmers working in the squatting position for long hours should be advised to change their position as soon as the compression symptoms (numbness, tingling) appear.
[Twin studies had an important role in the development of medicine. In this review, we present the available data of Hungarian twin studies and the number of twins in Hungary on the basis of statistical data. Comparing these data with international ones and taking into account probable prevalences, we aim to provide an estimation of the number of twins in Hungary who have cancerous diseases. Our estimation suggests that creation of a national database for such twins is feasible and could provide a great help for a better understanding of the causes and mechanisms of cancerous diseases.]
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.]
Hypertension and nephrology
[The aim of this paper is to give an overview of the relationship between stress and hypertension and cardiovascular diseases, furthermore to introduce an evidence based stress management intervention available in Hungary. The correlation between cardiovascular disease and psychosocial factors (including concomitant mental disorders as well as personality traits or the effect of social environment) has been established in numerous studies aimed at investigating pathogenesis or various clinical endpoints. The 2016 Guidelines of the European Society of Cardiology include the assessment and the management of psychosocial problems with behavioral medicine interventions as a I.A level recommendation. The implementation of these guidelines in everyday clinical practice is crucial to decrease cardiovascular risk. This involves the training of health care professionals, the facilitation of multidisciplinary collaboration and the integration of behavioral intervention into everyday care. The Williams Life Skills (WLS) program is an evidence based behavioral medicine intervention aiming to improve stress management and communication skills which implemented internationally and also available all over Hungary. It involves the learning of simple coping strategies that facilitate the successful management of every day psychosocial stress situations and the self-conscious reduction of bodily and psychological tensions. In cardiovascular disease, this improves quality of life and survival. The WLS program is especially recommended for healthcare workers to decrease the negative health consequences of their high stress load and to prevent burnout. Stress may affect both doctors and patients during their interactions. Bálint groups have a positive impact on the physician-patient collaboration and help to reduce burnout by improving the understanding of the diseases from a more complex approach.]
[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.]
[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.]
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Lege Artis Medicinae[LAM 30: 1990–2020. Facing the mirror: Three decades of LAM, the Hungarian medicine and health care system]
Lege Artis Medicinae[Dear Reader! Greetings to the 30th anniversary of founding the LAM]