Biomedical subjects

V Jüttnerová

Publications and source records attributed to V Jüttnerová.

At least 19 recordsLinked to original sources

PubMed2006

[Prenatal detection of congenital mezoblastic nephroma].

TYPE OF STUDY: Case report. SETTING: Department of Gynecology and Obstetrics, Department of Radiology, Department of Pathology, Department of Medical Genetics, Charles University Hospital, Hradec Králové. METHODS: The autors report a case of renal tumor in a fetus at 33 weeks of gestation detected by means of ultrasonography and magnetic resonance imaging. The pregnancy course was complicated by polyhydramnios. The female infant was born vaginally at 37 weeks of gestation. Postnatal nephrectomy confirmed prenatal diagnostic presumption - congenital mezoblastic nephroma. At follow-up at 12 months of age, the infant had no evidence of the disease. CONCLUSION: Detection of renal tumor in a fetus is rare. Congenital mezoblastic nephroma with the favourable prognosis is most probable diagnosis. Prenatal detection enables the prevention of complications (prematurity prevention, detection of the developing cardial decompensation and fetal hydrops) with the planning of labour and postnatal management.

Adult↗

PubMed2006

The urofacial (Ochoa) syndrome--first case in the central European population.

The urofacial (Ochoa) syndrome (UFS) is a very rare autosomal recessive disorder characterized by abnormal facial expression and urinary abnormalities. Patients with this syndrome have urinary tract infection, hydronephrosis, hydroureter and voiding dysfunctions resulting from neurogenic bladder, together with a peculiar inverted facial expression, mainly when smiling or crying. This syndrome has been so far observed in Colombia, USA, France and Spain. We report the first case of Ochoa syndrome in the central European population.

Facies↗

PubMed2002

[Aniridia].

Aniridia is a congenital developmental anomaly of the eye that usually affects both eyes. The development of the iris, cornea, lens, angle, optic nerve and retina is disturbed. Aniridia is most often a hereditary disease with an autosomal dominant, rarely autosomal recessive inheritance, but sporadic cases are also possible. The vision function in aniridia has been observed to have a wide range from blindness to a normal visual acuity. The more serious cases where blindness occurs has been due not specifically to the aniridia but to associated conditions like cataract, glaucoma, foveal hypoplasia, corneal dystrophy, nystagmus. Aniridia could be associated with the mental retardation. Some of the sporadic cases develop Wilms' tumor, frequently as part of the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation).

Adult↗

PubMed2001

[Prenatal diagnosis of de novo complex balanced rearrangements in chromosomes 3,4, and 13] ].

A case of apparently balanced de novo complex chromosome rearrangement with three breaks found in foetus by amniotic fluid examination is described. Amniocentesis was indicated because of low AFP in maternal serum during the first pregnancy of 25-year-old healthy woman. Her family anamnesis as well as her husbands on was insignificant, chromosomes were normal. Fetal karyotype was 46,XY,t(3;13;4)(q26.2;q21.3;q12). To eliminate further cryptic aberrations the multicolor FISH technique was employed. The risk of serious inborn malformation in complex rearrangement with three breaks was estimated on the basis of literary data to be 10.5% (3.5% per each break). The couple decided to terminate the pregnancy. No distinct anomaly was found in the fetus. Only 12 prenatal diagnoses of the complex balanced chromosome rearrangements formed de novo can be found in the literature. Total risk of the serious malformation relating to that small group of described cases is rather high. Only substantial enlargement of the clinic may enable to use prenatal evaluation of each individual case according to the number of chromosomal breaks or according to other criteria with more accurate results.

Abnormalities, Multiple↗

PubMed2000