RESUMO
BACKGROUND: Presence of multiple cardiac rhabdomyomas is one of the major features of Tuberous sclerosis (TSC), but isolated progressing single giant rhabdomyoma is very rare and not typical of TSC. CASE REPORT: This report presents family without obvious history of TSC with occurrence of giant mediastinal rhabdomyoma affecting the haemodynamics in male foetus, without other TSC symptoms. Girl from the next gravidity had prenatally detected multiple rhabdomyomas and small subcortical tuber of brain detected after birth. DNA analysis found novel c.4861A>T TSC2 variant and large deletion in TSC2 in tumour tissue from male foetus. The novel TSC2 variant was also present in the girl and her healthy father, in silico analysis suggested its functional effect on TSC2. Brain MRI of the father detected mild TSC specific abnormality. CONCLUSION: We suggest the novel TSC2 mutation is a cause of mild TSC in this family and has reduced expression. The clinical and molecular findings in this family also emphasize that TSC diagnosis should be also evaluated in case of single giant foetal cardiac rhabdomyoma.
Assuntos
Doenças Fetais/diagnóstico , Neoplasias do Mediastino/complicações , Rabdomioma/complicações , Esclerose Tuberosa/complicações , Proteínas Supressoras de Tumor/genética , Aborto Induzido , Autopsia , Análise Mutacional de DNA , Feminino , Doenças Fetais/genética , Predisposição Genética para Doença , Testes Genéticos , Humanos , Recém-Nascido , Masculino , Neoplasias do Mediastino/diagnóstico , Neoplasias do Mediastino/genética , Valor Preditivo dos Testes , Gravidez , Diagnóstico Pré-Natal , Doenças Raras/diagnóstico , Doenças Raras/genética , Rabdomioma/diagnóstico , Rabdomioma/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/genética , Proteína 1 do Complexo Esclerose Tuberosa , Proteína 2 do Complexo Esclerose TuberosaRESUMO
Bacterial infections are an important issue in current clinical medicine. The severity of infectious diseases has increased dramatically in recent years, which is also due to increasing numbers of resistant bacteria, including strains producing broad-spectrum beta-lactamases. The study aimed at determining the prevalence of ESBL- and AmpC-positive Enterobacteriaceae at the Department of Neonatology, University Hospital Olomouc. Enterobacteriaceae were isolated from clinical samples from infants hospitalized at the Department of Neonatology, University Hospital Olomouc over a period of 2 years. ESBL- and AmpC-positive isolates were subjected to basic genetic analysis. In the study period, a total of 1,526 isolates of the Enterobacteriaceae family were identified, including 55 (3.6%) cases of the ESBL phenotype and 17 (1.1%) AmpC-positive isolates. Genetic analysis of ESBL-positive isolates revealed a majority of CTX-M enzymes. Among AmpC beta-lactamases, the EBC, CIT, DHA, and MOX types were detected. An Escherichia coli strain was isolated with mutations in the promoter region of the ampC chromosomal gene that are associated with overproduction of the relevant enzyme.
Assuntos
Proteínas de Bactérias/metabolismo , Infecções por Enterobacteriaceae/microbiologia , Enterobacteriaceae/enzimologia , Enterobacteriaceae/isolamento & purificação , Doenças do Recém-Nascido/microbiologia , beta-Lactamases/metabolismo , Antibacterianos/farmacologia , Proteínas de Bactérias/genética , República Tcheca , Farmacorresistência Bacteriana , Enterobacteriaceae/classificação , Enterobacteriaceae/genética , Feminino , Hospitalização , Hospitais Universitários/estatística & dados numéricos , Humanos , Recém-Nascido , Masculino , Testes de Sensibilidade Microbiana , Neonatologia , beta-Lactamases/genéticaRESUMO
The study was aimed at (1) the determination of the incidence of abnormalities of the urinary tract in newborn infants detected by postnatal ultrasound screening, and (2) the evaluation of the diagnostic accuracy of postnatal ultrasound screening for detecting surgical urinary tract abnormalities. The prospective study was of full-term neonates born in the University Hospital of Olomouc in 2005-2008 who underwent renal ultrasound screening after 72 h of life. Significant findings were recorded. Subsequent diagnostic and therapeutic procedures were recorded and evaluated in a group of children with detected renal pelvic dilatation (RPD). (1) A total of 6,088 newborn infants was examined. The absolute and relative RPD incidence rates (anteroposterior diameter, APD) were as follows: 5-7 mm, 146 (2.4%); 7-10 mm, 70 (1.15%); 10-15 mm, 13 (0.21%), and 15 mm or more, 5 (0.08%). Of those, 16 children were operated on for abnormalities of the urinary tract, of which nine (56%) had been detected by prenatal screening. Other findings: six cases of unilateral renal agenesis, four cases of multicystic renal dysplasia, four of renal dystopia, one of polycystic kidney disease and one of renal hypoplasia. (2) A group of 224 children with postnatally detected RPD was examined, of whom 40 (17.9%) underwent voiding cystourethrography and/or scintigraphy and 16 (7.1%) were treated surgically. The receiver operating characteristic curves were analyzed, and the areas under the curves were calculated. Postnatal renal ultrasound screening is probably a suitable test for detecting significant urinary tract abnormalities.
