Retinal dystrophy in Bardet-Biedl syndrome and related syndromic ciliopathies.

Primary cilia are almost ubiquitously expressed in eukaryotic cells where they function as sensors relaying information either from the extracellular environment or between two compartments of the same cell, such as in the photoreceptor cell. In ciliopathies, a continuously growing class of genetic disorders related to ciliary defects, the modified primary cilium of the photoreceptor, also known as the connecting cilium, is frequently defective. Ciliary dysfunction involves disturbances in the trafficking and docking of specific proteins involved in its biogenesis or maintenance. The main well-conserved ciliary process, intraflagellar transport (IFT), is a complex process carried out by multimeric ciliary particles and molecular motors of major importance in the photoreceptor cell. It is defective in a growing number of ciliopathies leading to retinal degeneration. Retinitis pigmentosa related to ciliary dysfunction can be an isolated feature or a part of a syndrome such as Bardet-Biedl syndrome (BBS). Research on ciliopathies and BBS has led to the discovery of several major cellular processes carried out by the primary cilium structure and has highlighted their genetic heterogeneity.

[Neonatal suppurative parotitis]. / Eitrige Parotitis bei einem Neugeborenen.

This report describes the case of a 10 days old newborn of a diabetic mother with gestosis, who developed erythema and swelling of the right cheek. A diagnosis of acute suppurative parotitis due to S. aureus was made. Following this case report the most important facts of epidemiology, pathogenesis, clinical manifestation, diagnostics, and therapy of suppurative parotitis are discussed.

[Echocardiographic online quantification of left ventricular systolic function in children: comparison with conventional off-line determination]. / Echokardiographische On-line-Quantifizierung der linksventrikulären systolischen Funktion bei Kindern: Vergleich mit der konventionellen off-line-Bestimmung.

Accurate and efficient echocardiographic on-line determination of left ventricular volume would be advantageous in the care of children with congenital heart disease and children with hemodynamic instability. The prospective study was performed to evaluate the clinical usefulness of the on-line automatic border detection system (acoustic quantification: AQ) for determination of left ventricular volumes and ejection fraction in comparison to the conventional off-line method (manual tracing). 107 patients were enrolled in the study. The ages ranged from 0.1 to 18.8 years (mean 8.3 +/- 5.6). All patients were studied in the apical four-chamber plane for acoustic quantification (AQ) and manual tracing as well. Left ventricular volumes were determined using the mono-plane Simpson's rule. Left ventricular end-diastolic volumes obtained by AQ correlated well but were slightly underestimated compared to those determined by manual tracing (r = 0.99). Left ventricular endsystolic volumes by AQ correlated well but were also slightly underestimated compared to those obtained by manual tracing (r = 0.98). Mean ejection fraction was 61.1 +/- 6.8% by AQ compared with 61.5 +/- 5.9% by manual tracing. Linear regression analysis demonstrated good correlation: y = 0.77x + 14.1, r = 0.89; p < 0.001. Measurement of left ventricular volumes and ejection fraction by AQ using automatic border detection compares well with measurements done by manual tracing. However, AQ tends to underestimate to some degree. The time necessary for acquisition of data was similar in both methods. AQ seems to be a promising method for real-time estimation of left ventricular volume, even in children.

[Normal Doppler ultrasound values of the anterior cerebral artery of premature and newborn infants with reference to cardiac function parameters and intestinal blood flow profile]. / Dopplersonographische Normalwerte der Arteria cerebri anterior von Früh- und Neugeborenen unter Berücksichtigung kardialer Funktionsparameter und intestinaler Blutflussprofile.

BACKGROUND: Hemodynamic impairements play an important role in the development of cerebral lesions. These changes may be detected by dopplersonographic flow measurements in cerebral arteries. For that reason it is necessary to establish normal values in relation to cardiac function and intestinal perfusion. METHODS & PATIENTS: 62 neonates with uncomplicated postnatal adaptation were investigated by dopplersonographic measurements of ant. cerebral artery (ACA) at the 1st, 2nd, 3rd and 5th day of life. Relations to left ventricular ejection time (LVET) and systemic blood pressure were described. An index of parameters from ACA and sup. mesenteric artery was determined. RESULTS: We demonstrated a significant increase of flow velocities and a decrease of pulsatility index in relation to increased gestational and postnatal age. There was a positive correlation between LVET and systemic blood pressure to peak flow velocities and a negative correlation to pulsatility index. The index of the parameters from ACA to sup. mesenteric artery was not depended on gestational age. The index of the flow velocities of both arteries increased from first to fifth day of life, whereas the index of the pulsatility index decreased. CONCLUSION: With these results it is possible to evaluate cerebral hemodynamic changes by dopplersonographic measurements in relation to gestational and postnatal age and under consideration of cardiac function and mesenteric perfusion.

[From infant nurse to "baby-friendly hospital"--promotion of breast feeding in the University Women's Hospital in Leipzig]. / Von der Stillschwester zum "Stillfreundlichen Krankenhaus"--Stillförderung in der Universitätsfrauenklinik Leipzig.

The attitude of medical professionals towards natural infant feeding is decisive in the support of mothers who want to breastfeed. The atmosphere in a "Baby-Friendly Hospital" is determined by the creation of conditions for breastfeeding on demand and for early, undisturbed mother-child contact. At the University Women's Hospital in Leipzig the development of good breastfeeding management was supported by the employment of a "breastfeeding nurse" and enhanced by continuing education for physicians, nurses and midwives in lactation and breastfeeding. In this way comprehensive, uniform information as well as practical guidance important for breastfeeding success were ensured for pregnant and young mothers.

[Infantile type Bland-White-Garland syndrome as a cause of death in Rh incompatibility]. / Das Bland-White-Garland-Syndrom (BWGS) vom infantilen Typ als Todesursache bei Rh-Inkompatibilität.

The faulty origin of the left coronary artery from the pulmonary artery is with an incidence of 1:300,000 newborns a very rare heart defect. We report a case of a pregnancy with two intrauterine blood transfusions in the 30th and 32nd week of gestation because of Rh-incompatibility and fetal anaemia. Dopplersonographic and echocardiographic parameters were normal. In the 32nd week of gestation delivery was induced (birth weight 2240 g, cord pH value 7.35, Apgar-score 8/9/9). Under a therapy with respiration, blood exchange transfusion and cardiotonic drugs the newborn died in the second week. The autopsy showed a general immaturity, a haemosiderosis of spleen, liver and lungs, a marked cellular jaundice and signs of a multi-organ-failure. The sinus of the pulmonary valve was the origin of the left coronary artery. In case of a seriously impaired pumping action and after exclusion of other heart defects the Bland-White-Garland-Syndrome (BWGS) has to be considered. Although a prenatal diagnosis of BWGS is with high resolution-ultrasound possible, the early postnatal diagnosis seems to be more relevant.

[Impaired postnatal cerebral perfusion after prenatal centralization-- increased risk of neonatal brain injury?]. / Gestörte postnatale cerebrale Perfusion nach pränataler Zentralisation--erhöhtes Risiko einer neonatalen Gefährdung?

Within the last years Doppler sonographic studies in high risk pregnancies had been included into obstetrical management strategies. Especially the high fetal risk in cases with severe intrauterine perfusion disturbances with signs of hemodynamic centralization--the brain sparing effect--had been established. In 11 premature newborns with prenatal sonographic recorded vasodilatation of cerebral vessels as a sign of hemodynamic centralization flow velocity waveforms of the anterior cerebral artery as well as left cardiac functional parameters (LVET, PEP) were measured at the 1st, 2nd, 3rd, 5th and 6th day of life. For the evaluation of the peripheral circulation the perfusion of the superior mesenteric artery was recorded by Doppler ultrasound. Additionally, the blood pressure, heart rate, pH and acid base status was considered. We used 25 premature newborns of corresponding gestational age and normal prenatal Doppler sonographic findings as a control group. In the group with prenatal brain sparing effect we could demonstrate a remarkable increase of the pulsatility index as a result of extreme diminished diastolic blood flow velocity. 5 newborns showed signs of reverse diastolic flow. The difference to the control group was highly significant. Perfusion measurements in the superior mesenteric artery demonstrated corresponding results at the first day of life with significant increased PI and diminished diastolic flow velocities. Our results demonstrate the great importance of prenatal diagnosis for the understanding of postnatal disturbances. The birth is not the endpoint of fetal hemodynamic centralization and the compensational mechanism is still continuing. Despite a well adapted cardiac function, normal hemodynamic situation and balanced metabolic findings remarkable changes of the impedance of the cerebral vessels are evident. Especially for the very immature newborns this may lead to the risk of leasions of the germinal matrix with following hemorrhage or ischaemic injury.

[Severe protracted intrauterine impaired perfusion--a cause of enteral motility disorder in the premature infant]. / Die schwere protrahierte intrauterine Perfusionsstörung--eine Ursache der enteralen Motilitätsstörung des Frühgeborenen.

The importance of measurement of blood flow in the fetal and uteroplacental circulations for the assessment of fetal wellbeing has been undisputed since some years. The present study is designed to prove if any relationship exists between severe hemodynamic disturbance in fetal as well as uteroplacental vessels and the occurrence of postnatal impairment of intestinal motility. The progress of 130 children, born in the University Women's Hospital Leipzig between 1991-1993 and with birth weights below 1500 g, has been analyzed. Doppler ultrasound examinations for detection of impairment in fetal and uteroplacental circulation were performed in all cases during pregnancy. A severe impairment of blood flow in the above mentioned circulations was defined by the presence of pathological pulsatility or resistance indices in both fetal and uteroplacental vessels as well as absent end diastolic flow in the umbilical artery and signs of centralization in the fetus. A severe hemodynamic impairment was found in 27 children and 26 of these were classified as severe hypotrophic after birth. The progress of these children was compared with this of other hypotrophic and euthrophic premature babies who had not revealed hemodynamic abnormalities. The incidence of disturbed postnatal intestinal motility (delayed meconium excretion, abdominal distention, retrograde peristalsis, subileus) was significantly higher in hypotrophic neonates with hemodynamic abnormalities in the course of pregnancy. Four of these newborns underwent surgery and surgical findings did not correlate with enterocolitis. The resumption of oral food intake for neonates who had hemodynamic impairments during pregnancy was delayed compared with the control groups.(ABSTRACT TRUNCATED AT 250 WORDS)

[External ventricular drainage--a possibility in therapy of progressive posthemorrhagic hydrocephalus in extremely premature newborn infants]. / Die externe Ventrikeldrainage--eine Möglichkeit der Therapie des progredienten posthämorrhagischen Hydrozephalus bei extrem unreifen Frühgeborenen.

7 premature infants with progressive posthaemorrhagic hydrocephalus were treated by means of external ventricular drainage (birth weight: 1050 gms, gestational age: 27.7 wks). All infants were generally unwell and were ventilated. The progression of hydrocephalus was well controlled during the drainage period in each patient. We believe external ventricular drainage is an effective form of therapy in premature infants with posthaemorrhagic hydrocephalus until the time of insertion of a ventriculo-peritoneal shunt.

[15 years Perinatal Center of the Leipzig University]. / 15 Jahre Perinatalzentrum der Universität Leipzig.

Report about experiences with developing a perinatal center step by step an the University of Leipzig, primarily directed to improve the results of premature labour, then expanded by intensive diagnostics and treatment and uniform documentation of all risk pregnancies. Perinatal and neonatal mortality decreases following this management.

[The exact prenatal diagnosis of abnormalities of the kidneys and efferent urinary system--a possibility for further decreasing perinatal morbidity and mortality]. / Die exakte pränatale Diagnostik von Fehlbildungen der Nieren und des harnableitenden Systems--eine Möglichkeit zur weiteren Senkung der perinatalen Morbidität und Mortalität.

Early detection of fetal malformations has become possible owing to the availability of highly advanced ultrasound systems. Majority of malformations, 30 per cent, has been recordable from urinary system. This system is early of access for the examiner, so that even sophisticated diagnosis of malformation is possible. High accuracy diagnosis has been increasingly helpful in forecasting pregnancy prognosis. Hence, with adequate perinatological management, it will be possible to influence on perinatal morbidity and mortality positively. 70 fetuses with malformations of kidneys and to urinary system have been observed in the context of this study. An assessment was made of diagnostic efficiency, postpartum development and long-range prognosis. Recommendations are derived from the above mentioned findings for perinatological approach in cases of diagnosed malformations of kidneys and the other urinary system.

[Intrauterine exchange transfusion in Rh immunization]. / Intrauterine Austauschtransfusion bei Rh-Immunisierung.

Intra-uterine exchange transfusion was performed on a patient in the 30th week of gestational age for Morbus haemolyticus fetalis. The indication for intra-uterine intervention resulted from spectrophotometric investigation of amniotic fluid which had revealed Zone III according to Liley as well as incipient hydropic development and development of ascites. The pregnancy had to be terminated for pathological CTG, four days after therapy. Postnatal neonatological intensive therapy included two exchange transfusions, before the child was dismissed in clinically intact condition.

[Results of invasive and pharmacosonographic studies in pregnancy (I)]. / Ergebnisse invasiver und pharmakosonographischer Untersuchungen in der Schwangerschaft (I. Mitteilung).

In prenatal diagnosis besides radiographic methods there is a growing trend towards the use of invasive diagnostic techniques. These techniques have proved to be suitable for early detection of genetically determined conditions, diseases, and malformations of different origin. Invasive examination techniques were applied to 1.104 cases of prenatal diagnosis at Humboldt-University, Berlin, School of Medicine (Charité), Department of Gynaecology and Obstetrics, from January 1st, 1985, up to September 30th, 1987. In this paper importance and possible applications of these methods have been reported.

[Results of invasive and pharmacosonographic studies in pregnancy (II: Amniofetography)]. / Ergebnisse invasiver und pharmakosonographischer Untersuchungen in der Schwangerschaft (II. Mitteilung: Amniofetographie).

Prenatal diagnosis of fetal diseases and malformations, using invasive techniques is outlined in this paper. The value of amniofetography under present conditions is discussed together with the use of drugs both isolated and in conjunction with fill-up of the amniotic cavity. Indications for puncture of fluid-filled body cavities, with reference being made to patients looked after at the Humboldt-University Berlin, School of Medicine (Charité), Department of Gynaecology and Obstetrics, from 1985 up to 1987, are reported, too.