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Orvosi Hetilap
Authors: Gabriella P. Szabó, Beáta Bessenyei, Erzsébet Balogh, Anikó Ujfalusi, Katalin Szakszon, and Éva Oláh

Battaglia, A., Bianchini, E., Carey, J. C.: Diagnostic yield of the comprehensive assessment of developmental delay/mental retardation in an institute of child neuropsychiatry. Am. J. Med. Genet

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Orvosi Hetilap
Authors: Györgyi Miklós, György Fekete, Irén Haltrich, Miklós Tóth, and Péter Reismann

implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet. 2003; 123A: 45–59. 8

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JAMA 266 31 1816 Stromme, P., Hagberg, G. (2000) Aetiology in severe and mild mental retardation: a

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Orvosi Hetilap
Authors: Zsolt Tidrenczel, Erika P. Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, and János Demeter

W, Zonana J, Schroer RJ. Abnormal hair, craniofacial dysmorphism, and severe mental retardation – a new syndrome? J Clin Dysmorphol. 1983; 1: 6–13. 3 Bartsch O, Loitzsch A

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Congenital human cytomegalovirus (CMV) infection is the leading infectious cause of mental retardation, sensorineural deafness and visual impairment. It is mainly related to a primary maternal infection. The placenta should be considered the most important site of both the protection of the fetus from CMV infection and the transmission of CMV from mother to fetus. The control of the passage of CMV across the placenta probably involves a cascade of regulatory events. Roles are played by factors relating to the host immune-selective pressures, such as local cytokines and maternal CMV-specific neutralizing antibodies. The presence of other pathogens at the maternal-fetal interface also influences the outcome of CMV infection. Further investigations are needed in which clinical CMV strains are applied in in vitro studies to unravel the molecular mechanism of the intrauterine transmission of CMV and to elucidate the complex regulation that leads to prevention of the in utero transmission of CMV in vivo.

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With microbiome research being a fiercely contested playground in science, new data are being published at tremendous pace. The review at hand serves to critically revise four microbial metabolites widely applied in research: butyric acid, flagellin, lipoteichoic acid, and propionic acid. All four metabolites are physiologically present in healthy humans. Nevertheless, all four are likewise involved in pathologies ranging from cancer to mental retardation. Their inflammatory potential is equally friend and foe. The authors systematically analyze positive and negative attributes of the aforementioned substances, indicating chances and dangers with the use of pre- and probiotic therapeutics. Furthermore, the widespread actions of microbial metabolites on distinct organs and diseases are reconciled. Moreover, the review serves as critical discourse on scientific methods commonly employed in microbiome research and comparability as well as reproducibility issues arising thereof.

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Orvosi Hetilap
Authors: Melinda Erdős, Beáta Tóth, Pálma Juhász, Mohamed Mahdi, and László Maródi

A Nijmegen–Breakage-szindróma ritka, autoszomális recesszív öröklődésű kórkép, amelyre súlyos kombinált immundeficientia, visszatérő sinopulmonalis fertőzések, a kromoszómainstabilitás és az ionizáló sugárzással szembeni hiperszenzitivitás miatt a malignus betegségek gyakoribb előfordulása, fejlődési rendellenességek, madárarc, progresszív microcephalia, valamint növekedési és mentális retardáció jellemző. A betegség hátterében a DNS-repair-mechanizmusokban fontos szerepet játszó nibrin nevű protein kódolásáért felelős NBS1 gén mutációja áll. A közleményben a szerzők két esetismertetés kapcsán bemutatják a betegség klinikumát, a jellemző laboratóriumi leleteket, és összefoglalják a kórkép molekuláris patomechanizmusával kapcsolatos ismereteket, valamint a kezelés lehetőségeit.

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. ( 1973 ) Manual on terminology and classification in mental retardation . American Association of Mental Deficiency , Washington Grossman , H. J

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Magyar Pszichológiai Szemle
Authors: Teszár Dávid Tibor, Csákvári Judit, Pléh Csaba, and Fülöp Éva

. Harris , J. C. ( 2013 ). New terminology for mental retardation in DSM-5 and ICD-11 . Current opinion in psychiatry , 26 ( 3 ), 260 − 262 . Illyés Gy

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Abstract

Primary and recurrent infections of human cytomegalovirus (HCMV) can occur during pregnancy. Both can result in congenital infection, the leading infectious cause of mental retardation, sensorineural deafness and visual impairment. The intrauterine transmission of HCMV and an adverse outcome are mainly related to a primary maternal infection. However, there is currently increasing evidence that the incidence of symptomatic infections in infants born to immune mothers is higher than previously thought. The option of a prenatal diagnosis therefore has a crucial role in the management of pregnancies complicated by active HCMV infection. In spite of the potentially devastating consequences of congenital HCMV infection, little information is available concerning antiviral therapy as prophylactic treatment for women at high risk of the transmission of HCMV during pregnancy. Passive immunization for the prevention of vertical transmission of the virus appears promising. Until a HCMV vaccine is available, education is needed regarding the risk involved and the strategies to be adopted for the prevention of HCMV infection during pregnancy.

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