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View article: Association of neonatal and fetal malformations with polyhydramnios and oligohydramnios - introduction of a new “association factor”
Association of neonatal and fetal malformations with polyhydramnios and oligohydramnios - introduction of a new “association factor” Open
Background Our aim was to investigate the association of different neonatal and fetal anatomical abnormalities with polyhydramnios or oligohydramnios during prenatal ultrasonography. Methods In our study, we processed prenatal sonographic …
View article: Investigation of Pre- and Postnatal Abnormalities Caused by Prenatal CMV Infection—Systematic Review
Investigation of Pre- and Postnatal Abnormalities Caused by Prenatal CMV Infection—Systematic Review Open
Background/Objectives: CMV (cytomegalovirus) is associated with several developmental disorders. The incidence of congenital cytomegalovirus infection is around 1%, depending on the region. Previous prospective studies have shown that cert…
View article: Comparing Italian versus European strategies and technologies for respiratory care in NICU: results of a survey of the Union of European Neonatal and Perinatal Societies (UENPS) and the Italian Society of Neonatology (SIN)
Comparing Italian versus European strategies and technologies for respiratory care in NICU: results of a survey of the Union of European Neonatal and Perinatal Societies (UENPS) and the Italian Society of Neonatology (SIN) Open
View article: The Role of the Vaginal and Endometrial Microbiomes in Infertility and Their Impact on Pregnancy Outcomes in Light of Recent Literature
The Role of the Vaginal and Endometrial Microbiomes in Infertility and Their Impact on Pregnancy Outcomes in Light of Recent Literature Open
The Human Microbiome Project (HMP), initiated in 2007, aimed to gather comprehensive knowledge to create a genetic and metabolic map of human-associated microorganisms and their contribution to physiological states and predisposition to ce…
View article: Associations between Fetal Symptoms during Pregnancy and Neonatal Clinical Complications with Toxoplasmosis
Associations between Fetal Symptoms during Pregnancy and Neonatal Clinical Complications with Toxoplasmosis Open
Introduction: Toxoplasmosis is a parasitism transmitted by Toxoplasma gondii, part of the TORCH complex, the most prevalent parasitism worldwide. It is asymptomatic in immunocompetent individuals but causes severe infections and developmen…
View article: Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report
Heterogenic Genetic Background of Distal Arthrogryposis—Review of the Literature and Case Report Open
Distal arthrogryposis (DA) is a skeletal muscle disorder that is characterized by the presence of joint contractures in various parts of the body, particularly in the distal extremities. In this study, after a systematic review of the lite…
View article: Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up
Prenatal and Postnatal Diagnosis and Genetic Background of Corpus Callosum Malformations and Neonatal Follow-Up Open
Introduction: The corpus callosum is one of the five main cerebral commissures. It is key to combining sensory and motor functions. Its structure can be pathological (dysgenesis) or completely absent (agenesis). The corpus callosum dys- or…
View article: Laryngeal Mask Airway in Neonatal Resuscitation: A Survey of the Union of European Neonatal and Perinatal Societies
Laryngeal Mask Airway in Neonatal Resuscitation: A Survey of the Union of European Neonatal and Perinatal Societies Open
Introduction: Laryngeal mask airway (LMA) use in neonatal resuscitation is limited despite existing evidence and recommendations. This survey investigated the knowledge and experience of healthcare providers on the use of the LMA and explo…
View article: Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing
Screening of premature ovarian insufficiency associated genes in Hungarian patients with next generation sequencing Open
Background Premature ovarian insuffiency (POI) is one of the main cause behind infertility. The genetic analysis of POI should be part of the clinical diagnostics, as several genes have been implicated in the genetic background of it. The …
View article: Az első hazai tapasztalatok összegzése kromoszomális microarray-analízis és teljesexom-szekvenálás módszerekkel a magzati diagnosztikában
Az első hazai tapasztalatok összegzése kromoszomális microarray-analízis és teljesexom-szekvenálás módszerekkel a magzati diagnosztikában Open
Bevezetés: Az elmúlt évtized egyik jelentős technológiai újdonsága az ún. ’high-throughput’ molekuláris genetikai vizsgálati módszerek – mint a kromoszomális microarray-analízis (chromosomal microarray analysis, CMA) és a teljesexom-szekve…
View article: A Survey of the Union of European Neonatal and Perinatal Societies on Neonatal Respiratory Care in Neonatal Intensive Care Units
A Survey of the Union of European Neonatal and Perinatal Societies on Neonatal Respiratory Care in Neonatal Intensive Care Units Open
(1) Background: Our survey aimed to gather information on respiratory care in Neonatal Intensive Care Units (NICUs) in the European and Mediterranean region. (2) Methods: Cross-sectional electronic survey. An 89-item questionnaire focusing…
View article: Biostatistical evaluation of the effectiveness of fetal ultrasound diagnostics with application of new uncertainty factor and difficulty factor in cases of craniofacial malformations—gray zone in biostatistics for imaging procedures
Biostatistical evaluation of the effectiveness of fetal ultrasound diagnostics with application of new uncertainty factor and difficulty factor in cases of craniofacial malformations—gray zone in biostatistics for imaging procedures Open
The effectiveness of the detection of the facial and neck malformations was low (29.75%). The Uncertainty Factor F (U) and Difficulty Factor F (D) parameters, which characterized the difficulties of the prenatal ultrasound examination well.
View article: European guidelines on perinatal care: corticosteroids for women at risk of preterm birth
European guidelines on perinatal care: corticosteroids for women at risk of preterm birth Open
of recommendationsCorticosteroids should be administered to women at a gestational age between 24+0 and 33+6 weeks, when preterm birth is anticipated in the next seven days, as these have been consistently shown to re…
View article: Case report: A particularly rare case of endogenous hyperinsulinemic hypoglycemia complicated with pregnancy treated with short-acting somatostatin analog injections
Case report: A particularly rare case of endogenous hyperinsulinemic hypoglycemia complicated with pregnancy treated with short-acting somatostatin analog injections Open
Hyperinsulinemic hypoglycemia is a rare disease, and only two cases complicated with pregnancy were published previously when our patient became pregnant. We introduce a successful management of a pregnancy in a patient with endogenous hyp…
View article: Fetal Craniospinal Malformations: Aetiology and Diagnosis
Fetal Craniospinal Malformations: Aetiology and Diagnosis Open
The chapter discusses the aetiology and diagnostics of each fetal craniospinal disorder, particularly neural tube defects, ventriculomegaly, Dandy-Walker and Arnold-Chiari malformation, corpus callosum dysgenesis, iniencephaly, holoprosenc…
View article: Effect of New Peripudendal Block (PPB) in the Second Stage of Labour on Perineal Relaxation and on the Reduction of Episiotomy Rate: A Randomized Control Trial
Effect of New Peripudendal Block (PPB) in the Second Stage of Labour on Perineal Relaxation and on the Reduction of Episiotomy Rate: A Randomized Control Trial Open
Background and Objectives. We developed a new procedure peripudendal block (PPB) by modifying the traditional pudendal nerve block (PNB). Methods. In a prospective randomized study, we examined the extent to which the PPB we developed chan…
View article: A ritka kromoszóma-rendellenességek és a fetoplacentaris mozaikosság jelentősége a praenatalis diagnosztikában a nem invazív szűrővizsgálatok tükrében
A ritka kromoszóma-rendellenességek és a fetoplacentaris mozaikosság jelentősége a praenatalis diagnosztikában a nem invazív szűrővizsgálatok tükrében Open
Összefoglaló. Bevezetés és célkitűzés: A gyakori autoszomális trisomiák és a nemi kromoszómaeltérések a mikroszkóppal észlelhető kromoszóma-rendellenességek kb. 80–85%-át képviselik. A ritka kromoszóma-rendellenességek klinikai következmén…
View article: Effectiveness of fetal ultrasound diagnostics in cardiac malformations and association with polyhydramnios and oligohydramnios
Effectiveness of fetal ultrasound diagnostics in cardiac malformations and association with polyhydramnios and oligohydramnios Open
Echocardiography plays an important role in the prenatal diagnostics. In cases of polyhydramnios and oligohydramnios, fetal echocardiography should be performed.
View article: Prenatal diagnosis of a 16p11.2p11.1 mosaic small supernumerary marker chromosome (sSMC)
Prenatal diagnosis of a 16p11.2p11.1 mosaic small supernumerary marker chromosome (sSMC) Open
Background. Small supernumerary marker chromosome (sSMC) is a challenge in prenatal diagnosis. Its’ presence is associated with advanced maternal age and distinct ultrasound findings, prediction of postnatal clinical consequences and prena…
View article: A microarray-komparatív genomhibridizálás (arrayCGH) praenatalis alkalmazása. <i>Javaslat a hazai bevezetésre</i>
A microarray-komparatív genomhibridizálás (arrayCGH) praenatalis alkalmazása. <i>Javaslat a hazai bevezetésre</i> Open
Invasive prenatal testing and conventional G-banding chromosome analysis have been considered to be the gold standard of fetal cytogenetic diagnosis. Standard karyotyping is, however, constrained by the limits of the resolution of using a …
View article: Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations
Study of patterns of inheritance of premature ovarian failure syndrome carrying maternal and paternal premutations Open
View article: Praenatalisan diagnosztizált Pallister–Killian-szindróma esete
Praenatalisan diagnosztizált Pallister–Killian-szindróma esete Open
Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retarda…
View article: Magzati-újszülöttkori fejlődési rendellenességek praenatalis ultrahangvizsgálatának eredményessége, a nehézségi és a bizonytalansági faktorok vizsgálata
Magzati-újszülöttkori fejlődési rendellenességek praenatalis ultrahangvizsgálatának eredményessége, a nehézségi és a bizonytalansági faktorok vizsgálata Open
Introduction and aim: The birth prevalence of congenital malformations is around 2-3%. The aim of this study was to examine the efficacy of ultrasound diagnostics in detecting congenital malformations. Method: We have processed the prenata…
View article: Complex X chromosome rearrangement associated with multiorgan autoimmunity
Complex X chromosome rearrangement associated with multiorgan autoimmunity Open
The clinical data of the presented patient suggest that fragmentation of the i(Xq) chromosome elevates the risk of autoimmune diseases.
View article: Expression of VEGF in Neonatal Urinary Obstruction: Does Expression of VEGF Predict Hydronephrosis?
Expression of VEGF in Neonatal Urinary Obstruction: Does Expression of VEGF Predict Hydronephrosis? Open
The pressure due to congenital urogenital obstruction resulting in mechanical stress in cells did not increase the expression of VEGF in young children in our study. To find a correlation between urogenital tract obstruction and increased …