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Clinical Neuroscience
MARCH 30, 2021
[ Background – Spinal muscular atrophy (SMA) is an autosomal recessive, progressive neuromuscular disorder resulting in a loss of lower motoneurons. Recently, new disease-modifying treatments (two drugs for splicing modification of SMN2 and one for SMN1 gene replacement) have become available. Purpose – The new drugs change the progression of SMA with neonatal and childhood onset. Increasing amount of data are available about the effects of these drugs in adult patients with SMA. In this article, we summarize the available data of new SMA therapies in adult patients. Methods – Members of the Executive Committee of the Hungarian Clinical Neurogenetic Society surveyed the literature for palliative treatments, randomized controlled trials, and retrospective and prospective studies using disease modifying therapies in adult patients with SMA. Patients – We evaluated the outcomes of studies focused on treatments of adult patients mainly with SMA II and III. In this paper, we present our consensus statement in nine points covering palliative care, technical, medical and safety considerations, patient selection, and long-term monitoring of adult patients with SMA. This consensus statement aims to support the most efficient management of adult patients with SMA, and provides information about treatment efficacy and safety to be considered during personalized therapy. It also highlights open questions needed to be answered in future. Using this recommendation in clinical practice can result in optimization of therapy.]
Hypertension and nephrology
FEBRUARY 24, 2021
[Renal toxicity of lithium is a highly important subject which may jeopardize the use of an agent needed by millions suffering from recurrent episodes of bipolar disorder. Lithium induced severe renal damage leading to end stage renal disease can be almost prevented today using lowered plasma lithium levels. But administration of medicines are necessary for the prevention of the lithium induced disturbance in renal concentrating operation and development of nephrogenic diabetes insipidus. Use of thiazides, non-steroid anti-inflammatory compounds (indomethacine) amiloride, high doses of desmopressin and their combinations are our present armamentarium. The present therapy for lithiuminduced nephrogenic diabetes insipidus in man is to counter anti-vasopressin action of lithium. The “future” treatment seems to be (on the basis of recent animal experiments) to enhance the sensitivity of the kidney to vasopressin action by administering pharmacologic blockade of the renal P2Y12 receptor by using clopidrogel or prasugrel.]
Journal of Nursing Theory and Practice
FEBRUARY 28, 2020
[In our research we compared whether pregnant women with polycystic ovary syndrome or the mothers who were healthy through pregnancy has a higher risk to develop high BMI, metabolic syndrome, preeclampsia, polyhydramnion and macrosomia. Our research is a retrospective, cross-sectional study. In the random sampling within the target group, the target group was diagnosed with PCOS (n=50) and the control group was mothers who had undergone uninterrupted pregnancy (n=50). The exclusion criterion is the coexistence of other endocrine disease that may affect the parameters under consideration, in addition to the control group the diagnosis of PCOS. With IBM SPSS for Windows 22.0, we applied two-sample T-test and Khi2 test (p<0.05). The BMI values measured in the PCOS study group are higher than in the control group (p<0,05). Pregnant women with PCOS has a higher risk of developing high blood pressure, and high cholesterol (p<0,05). The difference between the two groups can not be considered significant for the development of proteinuria and oedema. Emphasis should be placed on PCOS gravid care, early detection of metabolic disturbances, accurate documentation, and elimination of complications and illnesses associated with the disease.]
Hypertension and nephrology
DECEMBER 19, 2020
[The natriuretic peptide (NP) is an important endocrine, autocrine and paracrine system that is in constant interaction with RAAS and the sympathetic nervous system in order to ensure a continuous cardio-renal homeostasis. In abnormal conditions – if the pressure/volume load develops in the heart or there are some disorder in the vascular tone or in sodium-water balance, the NP system triggers the body’s defense mechanism. The neutral endopeptidase (NEP) inactivates the vasodilator NPs, bradykinin and vasoconstrictor angiotensin II and endothelin I as well. From this knowledge, the idea that inhibition of the effect of NEP (NEPg) offers a potentially beneficial option in the treatment of heart failure and hypertension was initiated, only the stimulatory effect of angiotensin II needs to be blocked. After a lengthy search, they arrived at a dualacting molecule with a beneficial effect of NEP inhibition (secubitrile) and the angiotensin II AT1 receptor antagonist valsartan (ARNI). Several clinical studies have shown that ARNI alone and in combination with other antihypertensive agents significantly reduces SBP and DBP in hypertensive patients. Its effect is also present in isolated systolic hypertension and in chronic kidney disease with high risk. Do not administer with an ACE inhibitor. Based on clinical experience to date, there is a logic expectation that ARNI will also be classified as a useful antihypertensive agent in the near future.]
Hypertension and nephrology
DECEMBER 19, 2020
[A new compound ARNi (valsartan/sacubitril) – as a member of a new pharmacoterapeutic group – has several clinical evidences almost in the whole spectrum of heart failure, especially in case of reduced left ventricular ejection fraction and hypertension. The most important and essential evidence based studies and the efficiency of the treatment with ARNi in heart failure have been demonstrated in this overview. Due to the favorable results of the studies the recommendations of ARNi indication are increasingly dominant in the clinical guidelines. The usage provides effective, safe therapeutic help for the poor life expectancy heart failure patients in the everyday clinical practice. The treatment is already available in Hungary.]
Clinical Neuroscience
NOVEMBER 30, 2020
Background: This overview provides a summary of the applications of transcranial Doppler (TCD) in ischemic stroke. Results: A fast-track neurovascular ultrasound protocol has been developed for detecting occlusion or stenosis. The technique is more reliable in the carotid area than in the posterior circulation. By monitoring the pulsatility index the increased intracranial pressure can be diagnosed. TIBI score was developed for grading residual flow. TCD has been shown to accurately predict complete or any recanalization. Regarding recanalization, TCD has a sensitivity of 92%, a specificity of 88%, a positive predictive value of 96%, a negative predictive value of 78% and an overall accuracy of 91%, respectively. Sonothrombolysis seemed to be a promising application but randomized controlled trials have shown that it does not improve clinical outcome. TCD examination can detect microembolic signals (MES) which are associated with an increased risk of stroke. Microemboli were detected in symptomatic and asymptomatic carotid artery stenosis and during carotid endarterectomy. The number of microemboli can be decreased by antithrombotic therapy. Contrast enchanced examination and Valsalva maneuver with continuous TCD monitoring can accurately screen for right-to-left shunt.
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Clinical Neuroscience
Cases of inborn errors of metabolism diagnosed in children with autism3.
Clinical Neuroscience
Alexithymia is associated with cognitive impairment in patients with Parkinson’s disease4.
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Clinical Oncology
[The indication for surgical resection in secondary liver malignancies - New therapeutic approaches]2.
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Clinical Oncology
[Importance of hypoxia in tumor progression: road to Nobel price and novel therapeutic opportunities]4.
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