0000000000121518
AUTHOR
Doris Macchiella
Kardiovaskuläres Profilscore in Patienten mit nicht- immunologischem Hydrops fetalis und kardialen Anomalien
Identification of novel mutations in the ABCA12 gene, c.1857delA and c.5653–5655delTAT, causing harlequin ichthyosis
Abstract Harlequin ichthyosis (HI) is a severe autosomal recessive developmental disorder of the skin that is frequently but not always fatal in the first few days of life. In HI, mutations in both ABCA12 gene alleles must have a severe impact on protein function and most mutations are truncating. The presence of at least one nontruncating mutation (predicting a residual protein function) usually causes a less severe congenital ichthyosis (lamellar ichthyosis or congenital ichthyosiform erythroderma). Here we report on a girl with severe HI diagnosed by prenatal ultrasound at 33 5/7 week gestation. Ultrasound findings included ectropion, eclabium, deformed nose, hands and feet, joint contra…
Abdominal Tumor in a 14-Year-Old Adolescent: Imperforate Hymen, Resulting in Hematocolpos—A Case Report and Review of the Literature
Background. Abdominal masses in female adolescents are uncommon. A rare cause of this condition is hematocolpos due to imperforate hymen.Case. We present a case of an unusually massive asymptomatic abdominal bulk in a 14-year-old female patient, who sought for medical advice after unusual abdominal pain lasting for few weeks. The patient was otherwise asymptomatic, apart from an unusual dramatic expansion of her abdominal wall during the last month. We describe the surgical management and the follow-up of the patient.Summary and Conclusion. Clinicians should keep in mind that an imperforate hymen can cause abdominal growth due to hematocolpos and include it in the differential diagnosis of …
Three-dimensional ultrasonography in prenatal diagnosis
Within the past five years, 3D ultrasonography has developed to the degree that it offers both the patient and the examiner an entirely new visual experience in prenatal diagnosis. With the system described here (Kretz-technik, Austria), any desired plane can be displayed within the stored volume, and within seconds a high-quality 3D surface or transparent image can be calculated and displayed on the ultrasound monitor without need for an external workstation. All of this can be performed routinely in the clinical setting. Since 1989 we have routinely examined a total of 458 fetuses (242 normal and 216 with anomalies) between 16 and 38 weeks of gestation, supplementing our conventional 2D u…
Blood flow velocity waveforms of the fetal middle cerebral artery in a normal population: reference values from 18 weeks to 42 weeks of gestation
The aim of this prospective cross-sectional study was to establish new Doppler reference curves for peak blood flow velocities (Vmax, Vmean, Vmin) and impedance indices (PI, RI) of the middle cerebral artery at 18-42 weeks of gestation by an automatic wave form analysis integrated into the ultrasound device. In 962 low-risk pregnancies, blood flow velocities were derived from the middle cerebral artery with pulsed color Doppler ultrasonography. Reference curves were constructed for the individual parameters based on a growth function from a four-parameter class of monotonic continuous functions according to the smallest square principle for maximum blood flow velocities, as well as on a pol…