Hajnalka Szabó

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KIAA0586, the human ortholog of chicken TALPID3, is a centrosomal protein that is essential for primary ciliogenesis. Its disruption in animal models causes defects attributed to abnormal hedgehog signaling; these defects include polydactyly and abnormal dorsoventral patterning of the neural tube. Here, we report homozygous mutations of KIAA0586 in four(More)
BACKGROUND Since immunomodulators and antitumor necrosis factor (TNF) agents are increasingly used to treat inflammatory bowel disease (IBD), it is recommended to administer antipneumococcal vaccination to prevent opportunistic pneumonia. There is some evidence that concomitant immunosuppression may impair the immune response to vaccination. We aimed to(More)
Human enterovirus 109 (EV109) is a recently identified recombinant enterovirus in family Picornaviridae from acute paediatric respiratory illness in Nicaragua. EV109 have not been reported elsewhere. Our aims were the molecular detection and genetic analysis of EV109 from acute childhood respiratory infections in Hungary. Nasopharyngeal aspirates were(More)
Acute severe ulcerative colitis is a serious condition that requires early hospitalization, with intensive monitoring and treatment. Despite the recent progress in the medical approach of Inflammatory Bowel Diseases acute severe ulcerative colitis remains a clinical challenge, with a mortality rate of nearly 1%. As of today, I.V. corticosteroids remain the(More)
Pontocerebellar hypoplasias are heterogeneous disorders that share a reduction in the size of brainstem and cerebellum. We describe a patient with features of the rare combination of pontocerebellar hypoplasia and spinal motor neuron disease. Parental consanguinity, low Apgar scores, facial weakness, dysphagia, tongue fasciculations, stridor, generalized(More)
UNLABELLED Human respiratory syncytial virus (hRSV) is one of the major causes of respiratory infection of infants and children worldwide. The molecular epidemiology of hRSV is unknown in Hungary. AIMS Our aims were the molecular detection and genetic analysis of hRSV from childhood respiratory infections in Hungary. MATERIALS AND METHODS Nasopharyngeal(More)
Crohn's disease (CD) is a chronic panenteric disease of unknown aethiology tending to progress, inspite medical or surgical treatment. Intestinal fibrosis is among the most common complications of CD, resulting in stricture formation in the small intestine and colon. About 75% of CD patients will undergo surgery at least once over the course of their(More)
Torque teno midi virus/small anellovirus (TTMDV/SAV) is a member of the family Anelloviridae. It has a single-stranded, circular, negative-sense DNA genome. Its pathogenic role in human disease remains to be confirmed. In this study, viral shedding, molecular epidemiology and genetic diversity of TTMDV/SAV were studied in human body fluids. Nasopharyngeal(More)
OBJECTIVE Anaemia is frequently seen in inflammatory bowel disease (IBD) and needs appropriate treatment. This online questionnaire investigated the patients' perceptions of anaemia: symptoms, prevalence, treatment and impact on quality of life. METHODS Patients participated in this survey in 2012. Respondents were mainly from Europe, but also from North(More)
BACKGROUND Lung function data in healthy newborn infants are scarce largely due to lack of suitable techniques, although data for developmental and prenatal exposure studies are much needed. We have modified the forced oscillation technique (FOT) for the measurement of respiratory mechanical impedance (Zrs) in unsedated sleeping infants in the first 3 days(More)