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1.
Can J Physiol Pharmacol ; 93(7): 569-75, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-26103554

RESUMO

Loss-of-function mutations of the KCNJ2 gene encoding for the inward rectifier potassium channel subunit Kir2.1 cause Andersen-Tawil Syndrome (ATS), a rare genetic disorder characterised by periodic paralysis, ventricular arrhythmias, and dysmorphic features. Clinical manifestations of the disease appear to vary greatly with the nature of mutation, therefore, functional characterisation of ATS-causing mutations is of clinical importance. In this study, we describe the identification and functional analysis of a novel KCNJ2 mutation, Val302del, identified in a patient with ATS. Heterologously expressed wild type (WT) and Val302del mutant alleles showed similar subcellular distribution of the Kir2.1 protein with high intensity labelling from the membrane region, demonstrating normal membrane trafficking of the Val302del Kir2.1 variant. Cells transfected with the WT allele displayed a robust current with strong inward rectification, while no current above background was detected in cells expressing the Val302del Kir2.1 subunit. Co-transfection of CHO cells with the WT and the Val302del Kir2.1 revealed a dose-dependent inhibitory effect of the Val302del Kir2.1 mutant subunit on WT Kir2.1 currents. These observations indicate that the WT and the Val302del mutant subunits co-assemble in the cell membrane and that the mutation affects potassium conductivity and (or) gating of the WT/Val302del heteromeric Kir2.1 channels.


Assuntos
Síndrome de Andersen/genética , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Potenciais de Ação/genética , Adolescente , Animais , Células CHO , Clonagem Molecular , Cricetulus , Feminino , Humanos , Imuno-Histoquímica , Camundongos , Técnicas de Patch-Clamp , Plasmídeos , Transfecção
2.
Orv Hetil ; 156(3): 92-7, 2015 Jan 18.
Artigo em Húngaro | MEDLINE | ID: mdl-25577680

RESUMO

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with "Fontan-circulation" type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Cardiopatias Congênitas/cirurgia , Adulto , Ecocardiografia , Transplante de Coração , Humanos , Hungria
3.
Orv Hetil ; 156(28): 1140-3, 2015 Jul 12.
Artigo em Húngaro | MEDLINE | ID: mdl-26149507

RESUMO

Aortico-left ventricular tunnel is a rare congenital cardiac defect, which bypasses the aortic valve via the paravalvar connection from the aorta to the left ventricle. The authors present the case of a 14-year-old boy with aortico-left ventricular tunnel in whom the aortic orifice arose from the right aortic sinus and was closed by a pericardial patch. The diagnosis was confirmed by combined two-dimensional and real time three-dimensional echocardiogram and magnetic resonance imaging. This is the first case, in which these complex diagnostic imaging methods have been used in the pre- and postoperative management of this defect. Optimally the new transthoratic three-dimensional echocardiography would be needed to define the anatomy and functional consequences of the aortico-left ventricular tunnel and in the postoperative follow-up.


Assuntos
Aorta/anormalidades , Aorta/cirurgia , Insuficiência da Valva Aórtica/cirurgia , Ecocardiografia Tridimensional , Cardiopatias Congênitas/cirurgia , Ventrículos do Coração/cirurgia , Adolescente , Aorta/diagnóstico por imagem , Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/patologia , Insuficiência da Valva Aórtica/fisiopatologia , Ecocardiografia Transesofagiana , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/patologia , Cardiopatias Congênitas/fisiopatologia , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/patologia , Hemodinâmica , Humanos , Imageamento por Ressonância Magnética , Masculino
4.
Orv Hetil ; 156(20): 794-800, 2015 May 17.
Artigo em Húngaro | MEDLINE | ID: mdl-26038945

RESUMO

Improvements in surgical techniques and technical advancements have made possible for several patients with congenital heart disease to grow up to adulthood. It has been decided to create a registry for their more precise treatment. This registry now includes 2770 patients with data on 3043 operations, with almost 30 different diagnoses. The purpose of this paper is to review the facts and the basics leading to the establishment of this registry.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Cardiopatias Congênitas/cirurgia , Hospitais Universitários , Sistema de Registros , Procedimentos Cirúrgicos Cardíacos/história , Procedimentos Cirúrgicos Cardíacos/métodos , Procedimentos Cirúrgicos Cardíacos/estatística & dados numéricos , Feminino , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/história , História do Século XX , História do Século XXI , Hospitais Universitários/história , Hospitais Universitários/estatística & dados numéricos , Humanos , Hungria/epidemiologia , Masculino , Reoperação/estatística & dados numéricos , Estudos Retrospectivos , Distribuição por Sexo
5.
Pulm Circ ; 12(3): e12133, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36186721

RESUMO

Riociguat, a soluble guanylate cyclase stimulator, is approved for treatment of adults with pulmonary arterial hypertension (PAH). The safety, tolerability, and pharmacokinetics (PK) of oral riociguat in a pediatric population with PAH was assessed in PATENT-CHILD (NCT02562235), a multicenter, single-arm, 24-week, open-label, Phase 3 study. Patients aged 6-17 years in World Health Organization functional class (WHO-FC) I-III treated with stable endothelin receptor antagonists and/or prostacyclin analogs received riociguat equivalent to 0.5-2.5 mg three times daily in adults, as either oral pediatric suspension or tablets, based on bodyweight. Primary outcomes were safety, tolerability, and PK of riociguat. Twenty-four patients (mean age 12.8 years), 18 of whom were in WHO-FC II, were enrolled. Adverse events (AEs), mostly mild or moderate, were reported in 20 patients (83%). Four patients (17%) experienced a serious AE; all resolved by study end and two (8%) were considered study-drug related. Hypotension was reported in three patients and hemoptysis in one (all mild/moderate intensity). Riociguat plasma concentrations in pediatric patients were consistent with those published in adult patients. From baseline to Week 24, mean ± standard deviation increase in 6-minute walking distance was 23 ± 69 m (n = 19), and mean decrease in NT-proBNP was -66 ± 585 pg/ml (n = 14). There was no change in WHO-FC. Two patients experienced clinical worsening events of hospitalization for right heart failure. PK results confirmed a suitable riociguat dosing strategy for pediatric patients with PAH. The data suggest an acceptable safety profile with potential efficacy signals.

6.
Front Genet ; 12: 635480, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33995479

RESUMO

Congenital heart defects (CHD) are the most common developmental abnormalities, affecting approximately 0.9% of livebirths. Genetic factors, including copy number variations (CNVs), play an important role in their development. The most common CNVs are found on chromosome 22q11.2. The genomic instability of this region, caused by the eight low copy repeats (LCR A-H), may result in several recurrent and/or rare microdeletions and duplications, including the most common, ∼3 Mb large LCR A-D deletion (classical 22q.11.2 deletion syndrome). We aimed to screen 22q11.2 CNVs in a large Hungarian pediatric and adult CHD cohort, regardless of the type of their CHDs. All the enrolled participants were cardiologically diagnosed with non-syndromic CHDs. A combination of multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis and droplet digital PCR methods were used to comprehensively assess the detected 22q11.2 CNVs in 212 CHD-patients. Additionally, capillary sequencing was performed to detect variants in the TBX1 gene, a cardinal gene located in 22q11.2. Pathogenic CNVs were detected in 5.2% (11/212), VUS in 0.9% and benign CNVs in 1.8% of the overall CHD cohort. In patients with tetralogy of Fallot the rate of pathogenic CNVs was 17% (5/30). Fifty-four percent of all CNVs were typical proximal deletions (LCR A-D). However, nested (LCR A-B) and central deletions (LCR C-D), proximal (LCR A-D) and distal duplications (LCR D-E, LCR D-H, LCR E-H, LCR F-H) and rare combinations of deletions and duplications were also identified. Segregation analysis detected familial occurrence in 18% (2/11) of the pathogenic variants. Based on in-depth clinical information, a detailed phenotype-genotype comparison was performed. No pathogenic variant was identified in the TBX1 gene. Our findings confirmed the previously described large phenotypic diversity in the 22q11.2 CNVs. MLPA proved to be a highly efficient genetic screening method for our CHD-cohort. Our results highlight the necessity for large-scale genetic screening of CHD-patients and the importance of early genetic diagnosis in their clinical management.

7.
Int J Med Microbiol ; 300(5): 338-40, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19931486

RESUMO

Neonatal infections may be caused by various microorganisms, but as far as we are aware, Acinetobacter ursingii has not yet been reported in connection with nosocomial infections of premature infants. During 2 months, 3 premature babies were treated with nosocomial infection caused by A. ursingii at the same ward, and on the basis of molecular typing results the same strain was responsible for all of these cases. Traditional biochemical methods and automatic identification systems failed to identify this bacterium on the species level, and only 16S rDNA sequencing gave acceptable species identifications. The isolated strains proved to be susceptible to all of the tested antimicrobials, including ampicillin/sulbactam, doxycyclin, netilmicin, ciprofloxacin, piperacillin/tazobactam, ceftazidime, imipenem, meropenem, trimethoprim/sulfametoxazole, gentamicin, tobramycin, amikacin, and levofloxacin according to the CLSI standard. In spite of the environmental screening, the source of the infection could not be clarified. One of 3 neonates died, the others recovered and were discharged home after several months of hospitalization.


Assuntos
Infecções por Acinetobacter/epidemiologia , Acinetobacter/classificação , Acinetobacter/isolamento & purificação , Infecção Hospitalar/epidemiologia , Surtos de Doenças , Acinetobacter/genética , Infecções por Acinetobacter/microbiologia , Antibacterianos/farmacologia , Técnicas de Tipagem Bacteriana , Análise por Conglomerados , Infecção Hospitalar/microbiologia , Impressões Digitais de DNA , DNA Bacteriano/química , DNA Bacteriano/genética , DNA Ribossômico/química , DNA Ribossômico/genética , Feminino , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Masculino , Testes de Sensibilidade Microbiana , Dados de Sequência Molecular , Filogenia , RNA Ribossômico 16S/genética , Técnica de Amplificação ao Acaso de DNA Polimórfico , Análise de Sequência de DNA
8.
Pathol Oncol Res ; 15(1): 147-52, 2009 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-18575830

RESUMO

Edwards syndrome (trisomy of chromosome 18) is generally characterized by the disorders of central nervous system, as well as the musculoskeletal and genitourinary systems. In majority of the cases with trisomy 18 the following malformations can be found: ventricular septal defect, horseshoe kidneys, oesophageal atresia, omphalocele, facial clefts, diaphragmatic hernias and genital hypoplasia. We report a male patient with Edwards syndrome. The boy had a partial agenesis of corpus callosum, oesophageal atresia with tracheo-oesophageal fistula, renal agenesis, ventricular septal defect, Dandy-Walker cyst and low-set malformed ears. The first three features are unique based on previous literature reports on trisomy 18. This report allows a further delineation of the trisomy 18 syndrome.


Assuntos
Anormalidades Múltiplas/diagnóstico , Aberrações Cromossômicas , Cromossomos Humanos Par 18/genética , Trissomia , Anormalidades Múltiplas/genética , Adulto , Evolução Fatal , Feminino , Humanos , Lactente , Masculino , Síndrome
9.
Eur J Pediatr ; 167(12): 1379-83, 2008 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-18301921

RESUMO

Oxidative stress is known to play an important role in the pathogenesis of certain severe illnesses in preterm infants. The enzyme heme oxygenase-1 (HO-1) participates in cytoprotection against oxygen radical injury. We have previously described the role of HO-1 in physiologic adaptation by demonstrating the induction of HO-1 in healthy mature neonates and asymptomatic preterm infants. Our current aim was to investigate the HO-1 expression in preterm infants with respiratory distress syndrome (RDS). We collected venous blood samples from 28 preterm infants with RDS on the 1st, 3rd and 5th days after birth. The HO-1 mRNA expression was determined by means of a competitive reverse transcriptase PCR technique, and a quantitative blood count was performed on the residual blood sample. A significant increase in HO-1 expression was found in the preterm infants with RDS as compared with both the healthy mature and the asymptomatic premature groups. The elevation was approximately eight-fold. The platelet count displayed a significant negative association with the HO-1 expression, and in the RDS prematures with thrombocytopenia the HO-1 induction was significantly greater than in those with a normal platelet count. In conclusion, the RDS of prematures is accompanied by an elevated HO-1 expression during the first 5 days of life, consistent with the inflammatory and oxidative characteristics of the disease.


Assuntos
Heme Oxigenase-1/sangue , Recém-Nascido Prematuro , Síndrome do Desconforto Respiratório do Recém-Nascido/enzimologia , Biomarcadores/sangue , Estudos de Casos e Controles , Feminino , Expressão Gênica , Regulação Enzimológica da Expressão Gênica , Heme Oxigenase-1/genética , Humanos , Recém-Nascido , Masculino , Projetos Piloto , Reação em Cadeia da Polimerase , RNA Mensageiro/sangue , Síndrome do Desconforto Respiratório do Recém-Nascido/sangue , Síndrome do Desconforto Respiratório do Recém-Nascido/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa
11.
J Child Neurol ; 22(4): 447-51, 2007 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-17621527

RESUMO

Myotubular myopathy is a well-defined entity within the centronuclear myopathy subgroup of congenital myopathies. The authors present a patient with the most severe X-linked recessive type (XLMTM). A baby boy presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis, and respiratory insufficiency. Muscle biopsy showed features of myotubular myopathy. The diagnosis was confirmed and further specified by genetic analysis, revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene. This case underlines the importance of interdisciplinary analysis of congenital muscle diseases, including histomorphological and genetic investigations.


Assuntos
Doenças Genéticas Ligadas ao Cromossomo X , Mutação , Miopatias Congênitas Estruturais/genética , Proteínas Tirosina Fosfatases/genética , Análise Mutacional de DNA , Humanos , Recém-Nascido , Masculino , Microscopia Eletrônica de Transmissão/métodos , Fibras Musculares Esqueléticas/patologia , Fibras Musculares Esqueléticas/ultraestrutura , Miopatias Congênitas Estruturais/patologia , Proteínas Tirosina Fosfatases não Receptoras
12.
Orv Hetil ; 148(37): 1757-62, 2007 Sep 16.
Artigo em Húngaro | MEDLINE | ID: mdl-17827085

RESUMO

The first Hungarian report of a case of myotubular myopathy is presented here, which is a recessive congenital disorder linked to X chromosome. The patient presented at birth with severe hypotonia, weak spontaneous movements, arthrogryposis and respiratory insufficiency. The biopsy showed the appearance of myotubular myopathy. The diagnosis was further confirmed by genetic analysis revealing a novel frameshift mutation (1314-1315insT) of the myotubularin-coding MTM1 gene.


Assuntos
Mutação da Fase de Leitura , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Miopatias Congênitas Estruturais/genética , Miopatias Congênitas Estruturais/patologia , Proteínas Tirosina Fosfatases/genética , Biópsia , Análise Mutacional de DNA , Humanos , Lactente , Recém-Nascido , Microscopia Eletrônica , Hipotonia Muscular/etiologia , Prognóstico , Proteínas Tirosina Fosfatases não Receptoras , Timina
13.
Naunyn Schmiedebergs Arch Pharmacol ; 389(9): 1009-20, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27342418

RESUMO

Besides their deleterious action on cardiac muscle, anthracycline-type cytostatic agents exert significant neurotoxic effects on primary sensory neurons. Since cardiac sensory nerves confer protective effects on heart muscle and share common traits with cutaneous chemosensitive nerves, this study examined the effects of cardiotoxic doses of adriamycin on the function and morphology of epidermal nerves. Sensory neurogenic vasodilatation, plasma extravasation, and the neural CGRP release evoked by TRPV1 and TRPA1 agonists in vitro were examined by using laser Doppler flowmetry, the Evans blue technique, and ELISA, respectively. Carrageenan-induced hyperalgesia was assessed with the Hargreaves method. Immunohistochemistry was utilized to study cutaneous innervation. Adriamycin treatment resulted in profound reductions in the cutaneous neurogenic sensory vasodilatation and plasma extravasation evoked by the TRPV1 and TRPA1 agonists capsaicin and mustard oil, respectively. The in vitro capsaicin-, but not high potassium-evoked neural release of the major sensory neuropeptide, CGRP, was markedly attenuated after adriamycin treatment. Carrageenan-induced inflammatory hyperalgesia was largely abolished following the administration of adriamycin. Immunohistochemistry revealed a substantial loss of epidermal TRPV1-expressing nociceptive nerves and a marked thinning of the epidermis. These findings indicate impairments in the functions of TRPV1 and TRPA1 receptors expressed on cutaneous chemosensitive nociceptive nerves and the loss of epidermal axons following the administration of cardiotoxic doses of adriamycin. Monitoring of the cutaneous nociceptor function in the course of adriamycin therapy may well be of predictive value for early detection of the deterioration of cardiac nerves which confer protection against the deleterious effects of the drug.


Assuntos
Antibióticos Antineoplásicos/toxicidade , Doxorrubicina/toxicidade , Hiperalgesia/prevenção & controle , Nociceptividade/efeitos dos fármacos , Células Receptoras Sensoriais/efeitos dos fármacos , Pele/inervação , Animais , Biomarcadores/metabolismo , Peptídeo Relacionado com Gene de Calcitonina/metabolismo , Permeabilidade Capilar/efeitos dos fármacos , Capsaicina/farmacologia , Cardiotoxicidade , Carragenina , Modelos Animais de Doenças , Hiperalgesia/induzido quimicamente , Hiperalgesia/metabolismo , Hiperalgesia/fisiopatologia , Masculino , Atividade Motora/efeitos dos fármacos , Mostardeira , Óleos de Plantas/farmacologia , Ratos Wistar , Fluxo Sanguíneo Regional/efeitos dos fármacos , Células Receptoras Sensoriais/metabolismo , Pele/irrigação sanguínea , Canal de Cátion TRPA1 , Canais de Cátion TRPC/agonistas , Canais de Cátion TRPC/metabolismo , Canais de Cátion TRPV/agonistas , Canais de Cátion TRPV/metabolismo , Fatores de Tempo , Vasodilatação/efeitos dos fármacos
14.
Naunyn Schmiedebergs Arch Pharmacol ; 370(6): 436-43, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15549271

RESUMO

Capsaicin-sensitive sensory nerves that contain calcitonin gene-related peptide (CGRP) contribute significantly to cardioprotective mechanisms. In this study, the possible role of capsaicin-sensitive afferent nerves in the development of congestive heart failure was examined in an established model of adriamycin-induced experimental cardiomyopathy in rats. Systemic treatment with capsaicin was utilized to deplete sensory neuropeptides from cardiac afferent nerves. Echocardiography was applied to assess the cardiac function in adriamycin-treated rats pretreated with capsaicin or its vehicle. In control rats, adriamycin treatment produced a reduction in the fractional shortening of the left ventricle and an increase in the ratio of the left atrial diameter and the aortic diameter, indicative of a decreased myocardial contractility and heart failure only at 3-4 weeks post-treatment. In contrast, in capsaicin-pretreated rats, a deterioration of the cardiac function was already evident 1 week after the cessation of adriamycin administration, while the clinical signs associated with cardiomyopathy were more severe and displayed a significantly more rapid progression. Immunohistochemistry revealed a complete depletion of calcitonin gene-related peptide from cardiac sensory nerves after systemic capsaicin treatment. This study has demonstrated that elimination of capsaicin-sensitive afferent nerves promotes the development and progression of adriamycin-induced myocardial dysfunction. The results suggest that interfering with capsaicin/vanilloid receptor function and/or perturbation of the myocardial CGRP metabolism may open up new perspectives concerning prevention and/or alleviation of the pathological changes that follow adriamycin treatment.


Assuntos
Capsaicina/toxicidade , Cardiomiopatia Dilatada/fisiopatologia , Denervação/métodos , Doxorrubicina/toxicidade , Neurônios Aferentes/efeitos dos fármacos , Animais , Cardiomiopatia Dilatada/induzido quimicamente , Sinergismo Farmacológico , Masculino , Neurônios Aferentes/fisiologia , Ratos , Ratos Wistar
15.
Eur J Obstet Gynecol Reprod Biol ; 100(2): 171-3, 2002 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-11750959

RESUMO

OBJECTIVE: The aim of this study was to examine the social conditions of women who never attended prenatal care and to evaluate the perinatal outcome of their newborns. STUDY DESIGN: A retrospective analysis of uncared pregnancies of women who delivered at the Department of Obstetrics and Gynaecology, University of Szeged, Hungary between 1 January 1996 and 31 December 1998. There were 5262 deliveries during this period, of which 54 (1%) had no prenatal care. Matched controls (108 cases) were selected on the basis of maternal age, educational level, the number of gravidity and parity, and marital status. RESULTS: The mean age of women with out-of-care pregnancies was 27 years+/-3.9; 5 women were under 18, 23 (43%) were unmarried, 5 (9.3%) did not finish elementary school and 35 (65%) had only elementary school education. Compared to the controls there were more in preterm labors (33 versus 14% (OR 3.1, 95% CI 1.4-6.8)), lower birth weight (P<0.001) and more given up for adoption (17 versus 0.9% (OR 21.4, 95% CI 2.63-173.9)). CONCLUSION: These data underline the importance of regular prenatal care in the prevention of preterm delivery.


Assuntos
Resultado da Gravidez , Cuidado Pré-Natal , Adoção , Adulto , Peso ao Nascer , Escolaridade , Feminino , Humanos , Hungria/epidemiologia , Estado Civil , Idade Materna , Trabalho de Parto Prematuro/epidemiologia , Paridade , Gravidez , Estudos Retrospectivos
16.
Eur J Obstet Gynecol Reprod Biol ; 101(2): 124-8, 2002 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-11858885

RESUMO

OBJECTIVE: To determine the utility of the first-trimester fetal nuchal translucency (NT) thickness in the prediction of fetal cardiac malformations. DESIGN: Retrospective study. SETTING: Department of Obstetrics and Gynecology and Medical Genetics, University of Szeged. METHODS: The pre- and postnatal course and outcome, and the relationship between the first-trimester fetal NT thickness and fetal congenital heart defects (CHDs) in 4309 pregnancies ended up with birth or therapeutic abortion between January 1998 and June 2000 were registered. Prenatal care included first- and second-trimester fetal sonography at weeks 10-13 and 18-20, respectively. RESULTS: 4251 births and 58 first- and second-trimester therapeutic abortions due to lethal congenital malformations or chromosomal abnormalities were recorded. Altogether 209 (4.9%) congenital malformations were detected, 39 (18.7%) of which were heart defects with normal karyotype. At birth, 151 congenital malformations were diagnosed, 34 of them were known prenatally. The prevalence of CHDs was 9 per 1000 pregnancies. The measurement of fetal NT thickness was available in 35 of the 39 fetuses with heart defects: it was > or = 3 mm in 18 (51.4%) and <3 mm in 17 (48.6%). A sensitivity of 51.4% was found at a cutoff of 3mm. CONCLUSIONS: An increased NT thickness in chromosomally normal fetuses was found to be highly associated with CHDs and identified in more than half of the affected cases. Furthermore, an increased NT of > or = 3 mm can be regarded a selection criterion for early second-trimester targeted fetal echocardiography and for increased fetal and neonatal surveillance.


Assuntos
Doenças Fetais/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Hungria/epidemiologia , Recém-Nascido , Gravidez , Resultado da Gravidez , Primeiro Trimestre da Gravidez , Estudos Retrospectivos , Sensibilidade e Especificidade , Ultrassonografia
17.
J Reprod Med ; 48(3): 160-4, 2003 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-12698772

RESUMO

OBJECTIVE: To evaluate the perinatal outcome of singleton pregnancies after assisted reproductive techniques in comparison with that in matched controls from spontaneous pregnancies. STUDY DESIGN: A total of 11,776 deliveries from January 1, 1995, to May 31, 2001, were subjected to retrospective analysis. Data on 259 neonates from singleton pregnancies after ovulation induction (n = 85, 32.8%), intrauterine insemination (n = 17, 6.6%) or in vitro fertilization (n = 157, 60.6%) were evaluated. The pregnancy outcome was compared with that for controls (n = 518) matched for age, gravidity and parity after spontaneous pregnancies. RESULTS: Cesarean section was significantly more frequent in the study group than in the control group (42.1% vs. 27.6%, P < .001, odds ratio [OR] 1.91, 95% confidence interval [CI] 1.39-2.61). The prevalence of preterm deliveries was not significantly higher (P = .40, OR 1.23, 95% CI .78-1.95) in the study group as compared with the controls (12.7% vs. 10.6%). There was no significant difference in intrauterine growth retardation between the two groups (9.3% vs. 6.2%, P = .14, OR 1.55, 95% CI .89-2.69). CONCLUSION: Singleton pregnancies after assisted reproductive techniques are associated with an increased rate of cesarean section, whereas neonatal outcome is not influenced.


Assuntos
Cesárea , Fertilização in vitro/efeitos adversos , Inseminação Artificial/efeitos adversos , Complicações do Trabalho de Parto/etiologia , Indução da Ovulação/efeitos adversos , Complicações na Gravidez/etiologia , Resultado da Gravidez , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , História Reprodutiva , Estudos Retrospectivos , Medição de Risco
19.
J Matern Fetal Neonatal Med ; 25(9): 1791-5, 2012 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-22348539

RESUMO

OBJECTIVE: Gastric-arterial partial CO(2) pressure gap (P(g-)(a)CO(2) gap) measured by gastric tonometry may detect the disturbance of splanchnic perfusion. As in the neonatal age it is very difficult to follow up the circulatory condition with frequent acid-base examinations, we wanted to compare the P(g-)(a)CO(2) gap with an alternative gap of P(g)CO(2) - end-tidal carbon dioxide (P(g)(-)(ET)CO(2) gap). METHODS: A prospective study was performed on ventilated neonates requiring intensive therapy (n = 44, weight: 1813 ± 977 g). P(ET)CO(2) and P(g)CO(2) were measured with a side stream capnograph. We applied a newly developed gastric tonometric probe. Patients were divided into two groups: Group 1 of patients in stable condition (n = 35) and Group 2 of patients with severe condition (i.e. Clinical Risk Index for Babies [CRIB] score higher than 10; n = 9). For main statistical analysis a mixed model repeated measurements ANOVA, Bland-Altman analysis were applied. RESULTS: P(g)(-)(ET)CO(2) gap was higher than P(g-)(a)CO(2) gap (11.40 ± 7.79 versus 3.63 ± 7.98 mmHg, p < 0.01). Both gaps were higher in Group 2 (8.71 ± 10.89 and 18.27 ± 10.49 versus 2.53 ± 6.78 and 9.92 ± 6.22 mmHg, p < 0.01 and p < 0.05). Bland-Altman analysis of the two gaps showed an acceptable correspondence. CONCLUSIONS: P(g)(-)(ET)CO(2) gap may be used as a method for continuous estimation of splanchnic perfusion and a prognostic index also in critically ill neonates. However, the P(g-)(a)CO(2) gap should not be abandoned.


Assuntos
Dióxido de Carbono/análise , Cuidados Críticos , Doenças do Recém-Nascido/terapia , Estômago/química , Volume de Ventilação Pulmonar/fisiologia , Peso ao Nascer/fisiologia , Capnografia/instrumentação , Capnografia/métodos , Dióxido de Carbono/metabolismo , Estado Terminal/terapia , Mucosa Gástrica/metabolismo , Humanos , Recém-Nascido , Doenças do Recém-Nascido/metabolismo , Unidades de Terapia Intensiva Neonatal , Manometria/instrumentação , Manometria/métodos , Respiração Artificial
20.
Eur J Obstet Gynecol Reprod Biol ; 159(2): 289-92, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21958954

RESUMO

OBJECTIVE: To assess the neonatal outcome of macrosomic neonates in uncomplicated, singleton, term deliveries. STUDY DESIGN: A retrospective analysis was performed on 5738 live-born term neonates born in the period 2008-2009. The neonatal outcomes were compared between two birth weight (BW) groups: the macrosomic neonates born with BW≥4000g and a control group: 2500-3999g. There were 410 (7.1%) neonates in the macrosomic group, 4757 (82.9%) in the control group, while 571 (10.0%) were less than 2500g at birth. A correlation analysis of two subgroups of the macrosomic neonates (4000-4499g vs. ≥4500g) was also carried out. RESULTS: The rate of caesarean section (CS) was significantly higher in the macrosomic group as compared with the control group (49.3% vs. 39.9%), as were the prevalences of hypoglycaemia (6.1% vs. 2.9%), adrenal haemorrhage (0.98% vs. 0.15%) and the male to female ratio (2.15 vs. 0.95). The rate of icterus was significantly higher in the control group (30.4% vs. 18.5%). The macrosomic subgroups were similar in many aspects, but we found significantly more neonates in the higher weight subgroup as regards a low Apgar score, clavicle fracture and the need for intensive care. CONCLUSIONS: The macrosomic infants were born in good general condition, although those with BW ≥4500g more frequently had an adverse outcome. The macrosomic and control groups' data revealed significant differences in the rate of CS, the male to female ratio, hypoglycaemia and adrenal haemorrhage.


Assuntos
Macrossomia Fetal/etiologia , Macrossomia Fetal/fisiopatologia , Doenças das Glândulas Suprarrenais/congênito , Doenças das Glândulas Suprarrenais/diagnóstico por imagem , Doenças das Glândulas Suprarrenais/etiologia , Traumatismos do Nascimento/etiologia , Peso ao Nascer , Cesárea , Clavícula/lesões , Diabetes Gestacional/fisiopatologia , Feminino , Macrossomia Fetal/epidemiologia , Fraturas Ósseas/congênito , Fraturas Ósseas/etiologia , Hemorragia/congênito , Hemorragia/diagnóstico por imagem , Hemorragia/etiologia , Humanos , Hungria/epidemiologia , Hipoglicemia/congênito , Hipoglicemia/etiologia , Incidência , Recém-Nascido , Terapia Intensiva Neonatal , Icterícia Neonatal/etiologia , Masculino , Gravidez , Gravidez em Diabéticas/fisiopatologia , Estudos Retrospectivos , Distribuição por Sexo , Ultrassonografia
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