[et_pb_section fb_built=”1″ _builder_version=”3.22.7″ custom_padding=”||5px|||”][et_pb_row _builder_version=”3.25″][et_pb_column type=”4_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_text _builder_version=”4.6.6″]<\/p>\n
[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=”1″ specialty=”on” _builder_version=”3.22.3″ custom_padding=”24px|0px|25px|0px|false|false”][et_pb_column type=”3_4″ specialty_columns=”3″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_row_inner _builder_version=”3.25″][et_pb_column_inner saved_specialty_column_type=”3_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_blurb title=”Editoral in Hungarian” url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/szerklevel_2016_dec_rethelyi.pdf” url_new_window=”on” image=”https:\/\/mppt.hu\/wp-content\/uploads\/2019\/04\/pdf.png” icon_placement=”left” image_max_width=”105%” content_max_width=”1100px” _builder_version=”4.6.6″ header_font=”||||||||” header_font_size=”17px” header_line_height=”1.3em” body_font=”||on||||||” body_line_height=”1.3em” link_option_url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/szerklevel_2016_dec_rethelyi.pdf” link_option_url_new_window=”on”]<\/p>\n
J\u00e1nos R\u00e9thelyi<\/p>\n
[\/et_pb_blurb][et_pb_toggle title=”Abstract” closed_toggle_text_color=”#000000″ closed_toggle_background_color=”rgba(0,0,0,0)” icon_color=”#0c71c3″ _builder_version=”4.6.6″ title_font=”|600|||||||” title_letter_spacing=”1px” text_orientation=”justified” custom_padding=”0px||10px” border_width_all=”0px” border_width_bottom=”1px”]<\/p>\n
R\u00e9thelyi J\u00e1nos<\/p>\n<\/div>\n
[\/et_pb_toggle][et_pb_blurb title=”Potential salivary biomarkers and their genetic effects in a pilot study of adolescent boys with externalizing problems” url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/angyal_dec_2016.pdf” url_new_window=”on” image=”https:\/\/mppt.hu\/wp-content\/uploads\/2019\/04\/pdf.png” icon_placement=”left” image_max_width=”105%” content_max_width=”1100px” _builder_version=”4.6.6″ header_font=”||||||||” header_font_size=”17px” header_line_height=”1.3em” body_font=”||on||||||” body_line_height=”1.3em” link_option_url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/angyal_dec_2016.pdf” link_option_url_new_window=”on”]<\/p>\n
N\u00f3ra Angyal, J\u00f3zsef Hal\u00e1sz, Gergely M\u00e9sz\u00e1ros, Judit Krisztina Kov\u00e1cs, Emese Kruk and Zs\u00f3fia Nemoda<\/p>\n
[\/et_pb_blurb][et_pb_toggle title=”Abstract” closed_toggle_text_color=”#000000″ closed_toggle_background_color=”rgba(0,0,0,0)” icon_color=”#0c71c3″ _builder_version=”4.6.6″ title_font=”|600|||||||” title_letter_spacing=”1px” text_orientation=”justified” custom_padding=”0px||10px” border_width_all=”0px” border_width_bottom=”1px”]<\/p>\n
Aims: Beside the well-known stress response marker cortisol, salivary alpha-amylase is receiving
\nincreasing attention. Numerous studies have investigated the potential biomarker properties
\nof cortisol mirroring abnormal hypothalamic-pituitary-adrenal axis activity in connection to
\nboth internalizing and externalizing behavior problems. The other major physiological system
\ninvolved in stress reactivity, the sympathetic nervous system activity can be also measured by
\nthe surrogate marker of salivary alpha-amylase. Most of the studies applied a stressful situation
\nto obtain inter-individual differences in stress-reactivity, although differences in the baseline
\nlevel of cortisol have been also shown in relation to externalizing problems. To test the relevance of another (easier) biomarker, we selected to study baseline circadian salivary cortisol
\nand alpha-amylase levels among adolescent boys with externalizing problems. Methods:
\nSaliva samples were collected at 3 time-points (morning, noon, evening) during 3 consecutive days from 37 inpatient boys (mean age 12.4\u00b11.0). Cortisol and alpha-amylase levels were
\nmeasured by enzyme-linked immunosorbent and kinetic enzyme assays, respectively. Genetic
\nvariants in the hypothalamic-pituitary-adrenal axis and the norepinephrine transporter or
\ncatecholamine metabolizing enzymes were tested for potential moderating effects at these
\nsalivary biomarkers. Results: Saliva cortisol showed the classical diurnal fluctuation in boys
\nwith externalizing problems (possibly from a lower morning level), but it was not modified
\nby the presence of either conduct, oppositional defiant or attention-deficit\/hyperactivity
\ndisorder. The diurnal fluctuation of the salivary alpha-amylase levels was also typical, but the
\npresence of conduct disorder was associated with significantly lower alpha-amylase activity (p=0.024) among boys with externalizing problems. The catechol-O-methyltransferase
\nVal158Met (rs4680) polymorphism had an additional effect on salivary alpha-amylase: boys
\nwith homozygote genotypes had lower alpha-amylase activity at all 3 time-points compared
\nto Val\/Met heterozygotes (p=0.045). Conclusions: Our preliminary data suggest that salivary
\nalpha-amylase might be used to further characterize subgroups within externalizing problems,
\nhowever, this biomarker might be modified by certain genetic polymorphisms.
\n(Neuropsychopharmacol Hung 2016; 18(4): 173\u2013179)<\/p>\n
Keywords: alpha-amylase, conduct disorder, cortisol, externalizing behavior, stress<\/p>\n
[\/et_pb_toggle][et_pb_blurb title=”Investigation of CNTF, COMT, DDR1, DISC1, DRD2, DRD3, and DTNBP1 candidate genes in schizophrenia: Results from the Hungarian SCHIZOBANK Consortium” url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/benkovits_dec_2016.pdf” url_new_window=”on” image=”https:\/\/mppt.hu\/wp-content\/uploads\/2019\/04\/pdf.png” icon_placement=”left” image_max_width=”105%” content_max_width=”1100px” _builder_version=”4.6.6″ header_font=”||||||||” header_font_size=”17px” header_line_height=”1.3em” body_font=”||on||||||” body_line_height=”1.3em” link_option_url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/benkovits_dec_2016.pdf” hover_enabled=”0″ sticky_enabled=”0″]<\/p>\n
Judit Benkovits, Szilvia Magyar\u00f3si, Attila Pulay, Zolt\u00e1n Makkos, Anik\u00f3 \u00c9gerh\u00e1zi, N\u00f3ra Balogh, P\u00e9ter \u00c1lmos, Istv\u00e1n Lik\u00f3, Hungarian SCHIZOBANK Konzorcium, Gy\u00f6rgy N\u00e9meth, M\u00e1ria JuditMoln\u00e1r, L\u00e1szl\u00f3 Nagy and J\u00e1nos R\u00e9thelyi<\/p>\n
[\/et_pb_blurb][et_pb_toggle title=”Abstract” closed_toggle_text_color=”#000000″ closed_toggle_background_color=”rgba(0,0,0,0)” icon_color=”#0c71c3″ _builder_version=”4.6.6″ title_font=”|600|||||||” title_letter_spacing=”1px” text_orientation=”justified” custom_padding=”0px||10px” border_width_all=”0px” border_width_bottom=”1px”]<\/p>\n
Schizophrenia is a chronic, debilitating psychiatric disorder characterized by heterogeneous clinical symptoms. Although the pathogenesis of this disorder is poorly understood, several lines of evidence support the role of both common and rare genetic variants in the etiology of schizophrenia. Common variants, single nucleotide polymorphisms can be investigated by candidate gene association studies or genome-wide association studies, while rare variants, single nucleotide variants are assessable by means of candidate gene resequencing or wholeexome and genome sequencing using next generation sequencing. In this study we investigated polymorphisms of 7 candidate genes in a Hungarian schizophrenia cohort. Candidate genes were chosen on the basis of previous results and biological plausibility. 390 patients were recruited in 5 centers in the framework of the Hungarian SCHIZOBANK Consortium, the schizophrenia sample was contrasted to 1069 healthy control individuals. In this sample SNPs of DDR1 and DRD2 genes demonstrated significant association with schizophrenia. The role of DDR1 and DRD2 genes in the etiology of schizophrenia warrant further investigation, based
\non their genomic localization and biological functions.<\/p>\n
Keywords:<\/strong> schizophrenia, single nucleotide polymorphism, association study, candidate [\/et_pb_toggle][et_pb_blurb title=”Review of the psychiatric aspects of anti-NMDA (N-methyl-Daspartic acid) receptor encephalitis, case report, and our plans for a future study” url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/herman_dec_2016.pdf” url_new_window=”on” image=”https:\/\/mppt.hu\/wp-content\/uploads\/2019\/04\/pdf.png” icon_placement=”left” image_max_width=”105%” content_max_width=”1100px” _builder_version=”4.6.6″ header_font=”||||||||” header_font_size=”17px” header_line_height=”1.3em” body_font=”||on||||||” body_line_height=”1.3em” link_option_url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/herman_dec_2016.pdf” link_option_url_new_window=”on”]<\/p>\n Levente Herm\u00e1n, R\u00e9ka Ildik\u00f3 Zsigmond, L\u00e1szl\u00f3\u00a0 P\u00e9ter and J\u00e1nos R\u00e9thelyi<\/p>\n [\/et_pb_blurb][et_pb_toggle title=”Abstract” closed_toggle_text_color=”#000000″ closed_toggle_background_color=”rgba(0,0,0,0)” icon_color=”#0c71c3″ _builder_version=”4.6.6″ title_font=”|600|||||||” title_letter_spacing=”1px” text_orientation=”justified” custom_padding=”0px||10px” border_width_all=”0px” border_width_bottom=”1px”]<\/p>\n Anti-NMDAR (N-methyl-D-aspartic acid receptor) encephalitis, first described in 2007, is a rare, autoimmune limbic encephalitis. In half of the cases anti-NMDAR antibodies are paraneoplastic manifestations of an underlying tumor (mostly ovarian teratoma). In the early stage of the disease psychiatric symptoms are prominent, therefore 60-70% of the patients are first treated in a psychiatric department. In most of the cases, typical neurological symptoms appear later. Besides the clinical picture and typical symptoms, verifying presence of IgG antibodies in the serum or CSF is necessary to set up the diagnosis. Other diagnostic tools, including laboratory Keywords: NMDA, encephalitis, psychosis, schizophrenia, autoimmune<\/p>\n<\/div>\n<\/div>\n [\/et_pb_toggle][et_pb_blurb title=”An attempt to identify 22q11.2 microdeletions in samples of the Hungarian schizophrenia DNA bank by multiplex ligation-based probe amplification (MLPA): literature review, methodology and results” url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/klein_dec_2016.pdf” url_new_window=”on” image=”https:\/\/mppt.hu\/wp-content\/uploads\/2019\/04\/pdf.png” icon_placement=”left” image_max_width=”105%” content_max_width=”1100px” _builder_version=”4.6.6″ header_font=”||||||||” header_font_size=”17px” header_line_height=”1.3em” body_font=”||on||||||” body_line_height=”1.3em” link_option_url=”https:\/\/mppt.hu\/magazin\/pdf\/xviii-evfolyam-4-szam\/klein_dec_2016.pdf” link_option_url_new_window=”on”]<\/p>\n Izabella Klein, Katalin Sz\u0151cs, Katalin Vincze, Judit Benkovits, Szilvia Somogyi, Levente\u00a0 Herm\u00e1n and J\u00e1nos R\u00e9thelyi,<\/p>\n [\/et_pb_blurb][et_pb_toggle title=”Abstract” closed_toggle_text_color=”#000000″ closed_toggle_background_color=”rgba(0,0,0,0)” icon_color=”#0c71c3″ _builder_version=”4.6.6″ title_font=”|600|||||||” title_letter_spacing=”1px” text_orientation=”justified” custom_padding=”0px||10px” border_width_all=”0px” border_width_bottom=”1px”]<\/p>\n Schizophrenia is a severe debilitating psychiatric disorder, with a typical onset in adolescence or early adulthood. This condition is characterized by heterogeneous symptoms (hallucinations, delusions, disorganized behaviour, affective flattening, and social isolation) and a lifetime prevalence of 0.5-1.2%. In spite of the efforts to uncover the etiology of the disorder, its pathogenesis and neurobiological background are poorly understood. Given the high heritability in schizophrenia, genetic research remains an important area of focus. Besides the common variations of low penetrance \u2013 single nucleotid polymorphisms (SNPs) \u2013, rare variants, mainly copy number variations (CNVs) play a role in the genetic architecture of the disorder. Keywords<\/strong>: schizophrenia, CNV, 22Q11DS, MLPA, clinical screening<\/p>\n<\/div>\n [\/et_pb_toggle][\/et_pb_column_inner][\/et_pb_row_inner][\/et_pb_column][et_pb_column type=”1_4″ _builder_version=”3.25″ custom_padding=”|||” custom_padding__hover=”|||”][et_pb_image src=”https:\/\/mppt.hu\/wp-content\/uploads\/2019\/05\/b1_2016_dec.jpg” align_tablet=”center” align_phone=”” align_last_edited=”on|desktop” _builder_version=”3.23″ box_shadow_style=”preset3″][\/et_pb_image][\/et_pb_column][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":" Volume 18, Issue 4, December 2016 J\u00e1nos R\u00e9thelyi Molekul\u00e1ris pszichi\u00e1triai kutat\u00e1sok Magyarorsz\u00e1gon R\u00e9thelyi J\u00e1nos A Neuropsychopharmacologia Hungarica leg\u00fajabb sz\u00e1ma bepillant\u00e1st ny\u00fajt a Magyarorsz\u00e1gon zajl\u00f3\u00a0molekul\u00e1ris pszichi\u00e1triai kutat\u00e1sok jelenlegi \u00e1ll\u00e1s\u00e1ba. A molekul\u00e1ris pszichi\u00e1tria fogalm\u00e1nak meghat\u00e1roz\u00e1sa\u00a0nem k\u00f6nny\u0171 feladat. T\u00fal egyszer\u0171 lenne a k\u00e9rd\u00e9st azzal elint\u00e9zni, hogy a pszichi\u00e1triai zavarok\u00a0molekul\u00e1ris mechanizmusaival, betegs\u00e9g\u00fatvonalaival foglalkoz\u00f3 tudom\u00e1nyos megk\u00f6zel\u00edt\u00e9s. Ide soroljuk\u00a0a pszichi\u00e1triai genetikai […]<\/p>\n","protected":false},"author":4,"featured_media":48303,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"project_category":[59],"project_tag":[],"class_list":["post-48526","project","type-project","status-publish","has-post-thumbnail","hentry","project_category-neuropsychopharmacologia-hungarica-4-en"],"_links":{"self":[{"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/project\/48526","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/project"}],"about":[{"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/types\/project"}],"author":[{"embeddable":true,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/users\/4"}],"replies":[{"embeddable":true,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/comments?post=48526"}],"version-history":[{"count":17,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/project\/48526\/revisions"}],"predecessor-version":[{"id":49495,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/project\/48526\/revisions\/49495"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/media\/48303"}],"wp:attachment":[{"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/media?parent=48526"}],"wp:term":[{"taxonomy":"project_category","embeddable":true,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/project_category?post=48526"},{"taxonomy":"project_tag","embeddable":true,"href":"https:\/\/mppt.hu\/en\/wp-json\/wp\/v2\/project_tag?post=48526"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\ngene, DDR1, DRD2<\/p>\nAbstract<\/h5>\n
\ntests, MRI, lumbar puncture or EEG are neither specific, nor sensitive enough. Therapy is based on supportive care, plasma exchange and immune suppression, intensive care administration can be necessary. If there is an underlying tumor, tumor removal is the first-line treatment. The disease can cause fatal complications in the acute phase but with adequate therapy long-term prognosis is good, although rehabilitation can last for months. In the past few years besides the typical clinical picture and illness course an increasing number of case reports described no
\ntypical neurological symptoms, only psychiatric symptoms, including psychosis, disorganized behavior, and catatonic symptoms. Immune suppressive treatment was still effective in most of these cases. Such cases present a difficult diagnostic challenge. These patients may receive unnecessary antipsychotic treatment because of the suspected schizophrenia, although they often suffer from serious extrapyramidal side effects. A few years ago there was a hypothesis that a small part of the patients who are treated with therapy-resistant schizophrenia may suffer from anti-NMDAR encephalitis, so they require a different kind of medication. Evidence
\nfrom the latest publications did not confirm this hypothesis, although the connection between anti-NMDAR antibodies and disorders with psychotic symptoms is still not clear. After reviewing the most important studies regarding the psychiatric aspects of anti-NMDAR encephalitis, we present a case report of a patient with a pure sychiatric manifestation of this disease. We conclude with a short outline of the design and plan of our future study.<\/p>\nAbstract<\/h5>\n
\nThe most frequent CNV associated with schizophrenia is the hemizygous deletion of the 22q11.2 region. According to previous research this genetic variant occurs in 1% of the patients and conversely, 25% of the carriers of the 22q11.2 microdeletion will develop schizophrenia. The 22q11.2 deletion syndrome (22Q11DS, velocardiofacial (VCFS) syndrome, DiGeorgesyndrome) is usually a childhood diagnosis. Its prevalence is 1:2000\u20134000 considering all births. Patients can demonstrate heart developmental disorders, craniofacial (elongated face, hypertelorism), immunological (thymus-hypoplasia), endocrinological (hypocalcaemia) abnormalities, and\u00a0 eurodevelopmental alterations, but only a proportion will have
\nthese abnormalities due to incomplete penetrance. The variable symptoms complicate the recognition of the syndrome in the day to day medical practice. 25% of the known 22Q11DS patients develop schizophrenia but the risk of neuropsychiatric problems, like autism, ADHD and childhood conduct disorder is also increased, while early onset Parkinson\u2019s disease in also more frequent in adults. The schizophrenia phenotype is not distinguishable at the moment in patients with or without the 22q11 deletion. But emerging evidence suggests that early onset Parkinson\u2019s disease is more frequent in 22Q11DS and the effects of clozapine treatment could be different in schizophrenia with 22Q11DS. The question arises what is the incidence rate of the 22q11.2 microdeletion among our Hungarian DNA samples with schizophrenia. To answer the question, we utilized a new method used in routine genetic diagnostics, multiplex ligation-based probe amplification (MLPA). Although we genotyped the DNA of 315 Hungarian schizophrenia patients, we found no 22Q11DS in this cohort. The findings are discussed in terms of basic research and their translation into everyday clinical practice.<\/p>\n