A spinalis izomatrophia felismerésének fontossága = The significance of recognising spinal muscular atrophy

A spinalis izomatrophia (SMA) autoszomális recesszív módon öröklôdô, progresszív neuromuscularis kórkép, amely súlyos proximalis izomgyengeséghez és izomsorvadáshoz vezet. Klinikailag az SMA a korai megjelenésû súlyostól a felnôttkori, lassan progrediáló formáig változatos megjelenésû betegségek csoportját öleli fel. Az enyhe és felnôttkori formákat ritkán ismerik fel. Az SMA genetikai hátterének megismerését követôen, az elmúlt években egyre több betegségmódosító kezelési lehetôség vált elérhetôvé, amelyek megváltoztatják az SMA természetes lefolyását. Így a betegségmódosító kezelések beveze tésével szükségszerûvé vált az eddig alkalmazott multidiszciplináris palliatív ellátás mellett az új irányelvek megalkotása. A betegség káros hatásainak és a specifikus terápiák hatékonyságának a becslése szempontjából nagyon fontos a motoros funkciók változásainak utánkövetésével együtt az egészséggel kapcsolatos életminôség vizsgálata is. = Spinal muscular atrophy (SMA) is a rare autosomal recessive, progressive neuromuscular disorder leading to severe proximal muscle weakness and atrophy. The spectrum of dis - ease severity ranges from early onset severe form to the slowly progressive adult-onset type. Milder and adult forms of SMA are underdiagnosed. Due to understanding the genetic background of SMA, an increasing number of disease-modifying treatment options have become available in recent years, responsible for the modification of the natural course of the disease. Updated consensus statement for standard of care is necessary. Besides the motor function alterations, health-related quality of life measurements are highlighted for estimating the impact of SMA, and the effectiveness of specific the - rapies

Chronic Migraine as a Primary Chronic Pain Syndrome and Recommended Prophylactic Therapeutic Options : A Literature Review

Chronic pain conditions have a high socio-economic impact and represent a burden for patients, and their management is a challenge for healthcare professionals. Chronic migraine is one of the chronic primary headache disorders, which belong to chronic primary pain syndromes as per the new concept of multiple parenting. The aims of this review were to provide an overview of the latest classification systems involving both entities, the epidemiological data, and the currently recommended prophylactic treatment options for chronic migraine. Randomized controlled clinical trials, meta-analyses, real-world data, and review articles were analyzed. Chronic migraine is a prevalent and highly burdensome disease and is associated with high headache-related disability and worsening health-related quality of life. Treatment of chronic migraine includes pharmacological or, in drug-refractory cases, non-pharmacological (e.g., neuromodulatory) approaches. Among pharmacological treatment options, injectable botulinum toxin type A and calcitonin gene-related peptide-targeting human and fully humanized monoclonal antibodies (i.e., eptinezumab, erenumab, fremanezumab, and galcanezumab) are highly recommended in the preventive treatment of chronic migraine. Novel migraine-specific therapies offer a solution for this devastating and difficult-to-treat chronic pain condition

The pharmacotherapeutic management of episodic and chronic migraine with gepants

The small molecule non-peptide calcitonin gene-related peptide (CGRP) receptor antagonists named gepants offer a breakthrough novel approach in migraine acute and prophylactic drug treatment. This review aimed to determine the place of gepants in the treatment of episodic and chronic migraine.The new-generation gepants are ubrogepant, atogepant, rimegepant and zavegepant. Ubrogepant is ratified for acute migraine treatment, atogepant is validated for preventive therapy, whereas rimegepant is retified for both indications, all via oral administration, while zavegepant is administered intranasally for migraine attacks. Gepants are effective, safe, and well-tolerated in the acute or prophylactic therapy. The PubMed literature search included randomized controlled trials, meta-analyses, real-world data, and review articles published in English until January 2023.Whether gepants will be real game changers in the acute treatment of migraine compared to triptans and ditans, or in the prophylactic therapy compared to standard-of-care preventive drugs or CGRP-targeting monoclonal antibodies can not be answered yet based on the available literature data

Distribution of signaling neurotransmitters and interaction in the sphenopalatine ganglion

Clinical studies have suggested a link between the sensory trigeminal system and the parasympathetic ganglia. Calcitonin gene-related peptide (CGRP) is a sensory neuropeptide which plays an important role in vasodilatation and pain transmission in the trigeminovascular system. Our work was performed to examine the expression of the parasympathetic signaling transmitters and their receptors in human and rat sphenopalatine ganglion (SPG), and if CGRP and CGRP receptor components are present in the human SPG in order to reveal an interaction between the sensory and parasympathetic systems. Indirect immunofluorescence technique was used for immunohistochemical demonstration of vasoactive intestinal peptide (VIP), pituitary adenylate cyclase-activating peptide (PACAP), nitric oxide synthase (NOS), glutamine synthetase (GS), glial fibrillary acidic protein (GFAP), VIP and PACAP common receptors (VPAC1, VPAC2), PACAP receptor (PAC1), CGRP, the CGRP receptor components as the calcitonin receptor-like receptor (CLR) and the receptor activity modifying protein 1 (RAMP1) in human and rat SPG. In addition, double labeling was carried out to reveal the co-localization of neurotransmitters. Cryostat sections were examined and images were obtained using a light- and epifluorescence microscope coupled to a camera to visualize co-labeling by superimposing the digital images. In addition,Western blot technique was used to demonstrate the existence of VIP/PACAP receptors and CGRP receptor components in rat SPG. In human SPG VIP immunoreactive neurons as well as fibers were frequently found.Many, homogenously stained NOS immunoreactive cells were found, but no positive fibers. In addition, PACAP immunoreactivity was observed in some of the neurons and in fibers. Co-localization was found between VIP/NOS and PACAP/NOS in human. In rat VIP, NOS and PACAP immunoreactivity were found in many neurons and fibers. Co-localization of PACAP and NOS was observed in rat neurons. PACAP and GS double staining revealed that the PACAP immunoreactivity was localized in/close to the cell membrane, but not in the satellite glial cells (SGCs). PAC1 and VPAC1 immunoreactivity was found in the SGCs, in addition, VPAC1 and VPAC2 in fibers of both human and rat. Western blot revealed protein expression of PAC1, VPAC1 and VPAC2 in rat SPG. CGRP immunoreactive fibers were frequently found intraganglionic in both human and rat SPG in the vicinity of neurons, and in neurons in rat SPG. CLR immunoreactivity was observed in 7 SGCs as well as in nerve fibers, but not in neurons in both human and rat. RAMP1 immunoreactivity was localized in many neurons (in both human and rat), SGCs (in human) and nerve fibers (in rat). Thus, the two CGRP receptor components together were found in the SGCs in human and in the nerve fibers in rat. Western blot confirmed the presence of RAMP1 and CLR in rat SPG. We hypothesized that VIP, PACAP, NOS, PAC1, VPAC1, and VPAC2 play a role in the activation of parasympathetic cranial outflow during trigeminal-autonomic reflex. We have revealed that the trigeminal CGRP-containing fibers project to the SPG and act on CGRP receptors on SGCs in human. Therefore, our results suggest a functional coupling between the trigeminal (sensory) and the sphenopalatinal (parasympathetic) system

Examination of book purchasing and reading habits

Szakdolgozatomban napjaink könyvvásárlási és olvasási szokásait vizsgáltam egy 200 fős alapsokaság megkérdezésével. A rohamosan fejlődő digitális piac miatt sok új ágazat jött létre, amely a fogyasztók magatartásában változásokat idézett elő. A szakirodalmi áttekintésben ezért ismertettem az elektronikus kereskedelem fogalmát és kialakulását, valamint azt, hogy az internet terjedése hogyan befolyásolja az emberek életét és szokásait az olvasás, könyvvásárlás területén. Primer kutatásom során a kérdőíves megkérdezést alkalmaztam, amely segítségével bizonyítottam, illetve cáfoltam az előre felállított hipotéziseket. Ezt követően a kérdések alapján elemeztem a megkérdezettek fogyasztói magatartását, a válaszokat ábrázoltam diagramon is, majd levontam a következtetéseket.BSc/BAKereskedelem és marketin

Treatment of chronic migraine with OnabotulinumtoxinA: Mode of action, efficacy and safety

Background: Chronic migraine is a common, highly disabling, underdiagnosed and undertreated entity of migraine. It affects 0.9%–2.2% of the general adult population. The present paper overviews the preclinical and clinical data regarding the therapeutic effect of onabotulinumtoxinA in chronic migraineurs. Methods: A literature search was conducted in the database of PubMed up to 20 May 2015 for articles related to the pathomechanism of chronic migraine, the mode of action, and the efficacy, safety and tolerability of onabotulinumtoxinA for the preventive treatment of chronic migraine. Results: The pathomechanism of chronic migraine has not been fully elucidated. The mode of action of onabotulinumtoxinA in the treatment of chronic migraine is suggested to be related to the inhibition of the release of calcitonin gene-related peptide and substance P in the trigeminovascular system. Randomized clinical trials demonstrated that long-term onabotulinumtoxinA fixed-site and fixed-dose (155–195 U) intramuscular injection therapy was effective and well tolerated for the prophylactic treatment of chronic migraine. Conclusions: Chronic migraine is a highly devastating entity of migraine. Its exact pathomechanism is unrevealed. Two-third of chronic migraineurs do not receive proper preventive medication. Recent clinical studies revealed that onabotulinumtoxinA was an efficacious and safe treatment for chronic migraine

Prion diseases: New considerations

The transmissible spongiform encephalopathies, which include Creutzfeldt-Jakob disease, are fatal neurodegenerative disorders caused by the pathological accumulation of abnormal prion protein. The diagnosis of Creutzfeldt-Jakob disease is complex. The electroencephalogram, magnetic resonance imaging, lumbar puncture and genetic testing findings can help in the differential diagnosis of rapidly progressive dementia. There has recently been considerable debate as to whether proteins involved in the development of neurodegenerative diseases should be regarded as prions or only share prion-like mechanisms. Two recent reports described the detection of abnormal prion protein in the nasal mucosa and urine of patients with Creutzfeldt-Jakob disease. These findings raise major health concerns regarding the transmissibility of human prion diseases. We set out to address this neurological hot topic and to draw conclusions on the basis of what is known in the literature thus far. © 2016 Elsevier B.V

Szumatriptán–naproxén-nátrium fix dózisú kombinációja a migrén akut kezelésében – irodalmi áttekintés

A migrén az elsődleges fejfájásbetegségek közé tartozó gyakori megbetegedés, ami nagymértékben károsítja az egyén életminőségét. Gyógyszeres kezelésében akut és megelőző terápiákat különítünk el. Az Európai Fejfájás Társaság és az Európai Neurológiai Akadémia közös terápiás ajánlása alapján rohamterápiában nem kielégítő triptánválasz esetén javasolt triptán és nem szteroid gyulladásgátlók együttes adása. Munkánkban a fix dózisú szumatriptán–naproxén-nátrium (85 mg/500 mg) kombinációjú tabletta használatával kapcsolatos eredményeket (hatásosság, biztonságosság) tekintjük át randomizált klinikai vizsgálatok eredményei alapján. A fix dózisú szumatriptán–naproxén-nátrium kombinált farmakon a placebóhoz és az egyes összetevőkhöz viszonyítva statisztikailag szignifikánsan több migrénes páciensben eredményezett a gyógyszerbevételt követően 2 órával teljes fejfájásmentességet. Eredményesen csökkentette a migrén kísérőtüneteit, úgymint a hányingert, valamint a fény- és hangérzékenységet. A készítménnyel kapcsolatosan észlelt leggyakoribb mellékhatás a hányinger és a szédülésérzés volt, ami arányaiban megegyezett a placebóval. A fix dózisú szumatriptán–naproxénnátrium kombinált tabletta a migrén akut kezelésében hatékony, jól tolerálható és biztonságosan használható farmakon