Search PubMed⌕ Search

Biomedical subjects

A Huch

Publications and source records attributed to A Huch.

At least 55 records · Page 3Linked to original sources

Lethal multiple pterygium syndrome: suggestion for a consistent pathological workup and review of reported cases.

We report on 2 brothers with lethal multiple pterygium syndrome (LMPS) born to non-consanguineous parents as late spontaneous abortions. Both fetuses presented with massive nuchal edema, and facial anomalies including cleft palate and broad ribs. Apparently, several subgroups of LMPS exist. Differentiation is difficult, as there is no consistent agreement on a workup protocol for autopsies. We compared the findings in the literature on cases with LMPS, and we suggest a standardized workup as an initial step for more efficient differentiation between various subgroups.

Abnormalities, Multiple↗

Successful treatment of fetal megavesica in the first half of pregnancy.

OBJECTIVE: Our goal was to assess fetal kidney function in fetuses with megavesica diagnosed during the first half of pregnancy before treatment. STUDY DESIGN: In a prospective interventional study 9 fetuses with megavesica diagnosed during the first half of pregnancy underwent vesicocentesis. Fetal urine biochemical markers (urine electrolytes, osmolarity, and beta 2-microglobulins) were determined after diagnostic vesicocentesis of the fetal megavesica. RESULTS: Surprisingly, in four fetuses who underwent sampling at 13 to 18 postmenstrual weeks, vesicocentesis proved both diagnostic and therapeutic. Pregnancy proceeded with normal amniotic fluid volume, a normal-sized urinary bladder with normal dynamics, and normal postnatal renal function. A fifth fetus had trisomy 18. In three of the remaining four fetuses in whom sampling was performed at 16 to 20 postmenstrual weeks, biochemical markers indicated a poor prognosis. In the remaining fetus marginal results of biochemical studies prompted intrauterine treatment, but death from respiratory problems ensued after premature delivery at 31 weeks. CONCLUSIONS: Fetal megavesica in the first half of pregnancy is an indication for an immediate diagnostic vesicocentesis. This is the first report emphasizing early diagnosis of fetal megavesica with subsequent fetal vesicocentesis and demonstrating that this minimally invasive procedure can be life-saving if performed in early pregnancy.

Abdominal Muscles↗

Intrapartum reflectance pulse oximetry: effects of sensor location and fixation duration on oxygen saturation readings.

OBJECTIVE: To determine the effects of sensor location and suction fixation duration on measurements of intrapartum fetal oxygen saturation (SpO2) with a new reflectance pulse oximetry system. DESIGN: Fetal SpO2 values (n = 18) were determined in the first stage of labor before and after moving the sensor to another part of the fetal head. RESULTS: Mean fetal SpO2 values did not differ with sensor location (95% CI: -3.59 to 1.48). The duration of measurement period 1, before moving the sensor, was 104 +/- 44 (range 30-240) min. No time-dependent changes in SpO2 values were seen (r = 0.17). CONCLUSION: Suction is an effective and noninvasive method of securing the reflectance pulse oximetry sensor to the fetal head in the first stage of labor and does not interfere with reproducible SpO2 values over several hours.

Adult↗

Reference resistance indices of the umbilical, fetal middle cerebral and uterine arteries at 24-42 weeks of gestation.

The objective of this cross-sectional study was to construct new reference ranges for Doppler flow velocity waveform resistance indices for the fetal umbilical artery, middle cerebral artery, placental and non-placental uterine arteries and the placentocerebral ratio in a large and minimally selected population attending a single clinic. Study design and data analysis adhered to a number of stringent and validated methodological recommendations derived both from the recent literature and from a review of earlier publications in this field. The final database comprised initial routine Doppler velocimetry at 24-42 weeks' gestation in 1675 pregnancies. Separate regression models were fitted to estimate the mean and standard deviation at each gestational age for each vessel. New charts, centile tables and regression equations are presented for the resistance indices of the fetal umbilical artery, middle cerebral artery, placental and non-placental uterine arteries and the mean of both uterine arteries and for the placentocerebral ratio.

Adult↗

Diaphragmatic defects, limb deficiencies, and ossification defects of the skull: a distinctive malformation syndrome.

We report on prenatal and postnatal findings in 4 consecutive fetuses with a pattern of severe congenital anomalies who were born to a healthy nonconsanguineous couple. The spectrum of malformations includes diaphragmatic defects, hypoplastic lungs, omphalocele, limb deficiencies, syndactyly of toes, and ossification defects of the skull. This specific spectrum of anomalies is not fully compatible with that of any established syndrome. No prenatal exposure to any possible teratogen was found. Family history is suggestive for autosomal recessive inheritance, even though germ-line mosaicism in one of the parents cannot completely be excluded.

Abnormalities, Multiple↗

Optimal timing of repeated rh-erythropoietin administration improves its effectiveness in stimulating erythropoiesis in healthy volunteers.

We studied the effect of recombinant human erythropoietin (rhEPO) on erythropoiesis when given at different time intervals to healthy adults. 15 volunteers were randomly selected to receive rhEPO (2 x 300 U/kg) and parenteral iron (2 x 200mg) either within a 24 h or 72 h interval. Controls received parenteral iron only. Maximum EPO levels were found 24 h after the first intravenous injection (day 1) with a mean value of 364 and 390 U/l for the rhEPO-treated groups. When second rhEPO administration was after 72 h (group III), volunteers showed significantly higher absolute reticulocyte counts and a higher percentage of young RNA-rich reticulocytes (HFR ratio) over several days compared to those who received rhEPO within a 24 h interval (group II). Both rhEPO-treated groups showed an increase in the mean reticulocyte cell volume. Reticulocyte haemoglobin concentration was inversely correlated with the increasing cell size with a nadir on day 8. Reticulocyte haemoglobin content showed a significant decrease in group II after day 5. Serum ferritin levels showed an inverse pattern to the rate of erythropoiesis. After an initial rise, the serum ferritin decrease was most pronounced in group III. Contrary to previous reports with oral iron supplementation, functional iron deficiency was not seen during rhEPO stimulation, due to parenteral iron administration. Our data suggest that the time has interval between repeated administrations of rhEPO has an important influence on its pharmacodynamics. rhEPO given within an interval of 72 h was more effective in stimulating erythropoiesis than administration within 24 h interval for the same total dose.

Adult↗

Use of recombinant human erythropoietin in combination with parenteral iron in the treatment of postpartum anaemia.

The authors compared the effect of recombinant human erythropoietin (rhEPO) in combination with iron with that of iron therapy only in the treatment of postpartum anaemia. Ninety patients (30 patients/group) received either rhEPO (300 U kg-1, i.v. or s.c., once) and iron (parenteral and oral), or iron therapy only. Erythropoiesis was assessed by haemoglobin and haematocrit increase, absolute reticulocyte counting and reticulocyte flow cytometry. Ferrokinetics was assessed by serum ferritin, transferrin and transferrin saturation measurements. There was no difference before therapy for baseline haematological values or iron status. Patients with endogenous EPO levels below 145 mU mL-1 had a significant benefit from intravenous rhEPO administration with highest haematocrit and haemoglobin levels 4 and 14 days after therapy. rhEPO-treated groups showed a higher absolute reticulocyte count 1 and 4 days after therapy and an elevated percentage of high fluorescent reticulocytes (HFRs). Parenteral iron therapy caused a significant increase of ferritin and transferrin saturation, while transferrin concentration decreased. Ferritin and transferrin levels were lowest after i.v. administration of rhEPO, 1 and 4 days after therapy. C-reactive protein concentration was highest in patients who underwent caesarean section until the end of the observation period. A single dose of rhEPO in combination with iron was more effective in treating postpartum anaemia than iron therapy only, in patients who had low EPO levels despite peripartal blood loss. Postpartum low endogenous EPO levels might be a consequence of inhibiting inflammatory cytokines that are released after spontaneous or operative deliveries.

Anemia↗

Bilateral brachial amelia, facial clefts, encephalocele, orbital cyst and omphalocele: a recurrent fetal malformation pattern coming into focus.

Ultrasonographic and pathoanatomical features of a fetus displaying bilateral brachial amelia, complex facial clefting, encephalocele and omphalocele are described. The findings are compared with the few previously published cases. Bilateral brachial amelia with complex other organ malformations in previable fetuses may be more frequently diagnosed with improving prenatal ultrasonography.

Abnormalities, Multiple↗

Umbilical vein oxygen tension independent from gestational age at birth.

Umbilical venous oxygen tension (UVPO2) and gestational age are negatively correlated antepartum. To see if the negative correlation between UVPO2 and gestational age would still be present postpartum, a retrospective study of all 7522 births at the University of Zurich Hospital from 1989 through 1992 was performed. The 6612 infants with UVPO2 values were divided into low and higher risk groups. Singletons between the 10th and 90th weight percentiles, born vaginally with cephalic presentation after spontaneous onset of labor from healthy mothers were considered low risk. All other births were considered higher risk. No correlations between UVPO2 and gestational age were found in any group studied (low risk, higher risk or total population). The higher risk group had a lower mean UVPO2 than the low risk group (p < .0001). Since there is a negative correlation before birth and none after birth, this indicates that some preterm infants may be subject to greater drops in UVPO2 during delivery than term infants. The magnitude of the drop increases with additional complications and immaturity. However, not all preterms have normal UVPO2 values for gestational age antepartum. Some preterms already have a low UVPO2 in utero and experience a drop in UVPO2 during delivery as well.

Blood Gas Analysis↗

Does labor start too late?

To determine the optimal time of delivery, in terms of lowest risk of peripartum complications, the relative incidences of the parameters. Abnormal cardiotocogram (CTG), operative vaginal delivery, Apgar < 7 at 1 and 5 min, artery cord blood pH < 7.20, blood loss > 500 ml, epidural anesthesia, and Cesarean section, were retrospectively analysed with regard to mode of labor onset (spontaneous, induced) and gestational age in all deliveries between gestational weeks (GW) 35 + 0/7 and 42 + 6/7 from 1986 through 1993 at Zurich University Hospital (n = 11,834) and additionally with regard to birth weight in the same population from 1987 through 1993 (n = 10,346). The distribution of most parameters was parabolic with nadirs at GW 37-38; the incidence of low Apgar scores and Cesarean sections, however, was lowest nearer term (GW 39-40). Mode of labor onset had little effect (< or = 1 week) on the time of lowest incidence. The birth weight associated with the fewest complications was 3000 g, with the optimal time of delivery being GW 37-38, assuming a birth weight normal for gestational age.

Anesthesia, Epidural↗

[Trisomy-21 screening using AFPplus in the eastern part of Switzerland].

Two years after introduction of maternal serum screening for Down's syndrome in German-speaking Switzerland, based on measurements of alpha-fetoprotein, unconjugated estriol and total beta-HCG, results were analyzed of the two cytogenetic laboratories in Zurich and of a separate collective of the Department of Obstetrics at the University of Zurich. In a total of 489 cases with increased risk for Down's syndrome (> or = 1:380 at term) 19 (1:26; approximately 4%) had an abnormal fetal karyotype from which 16 had a trisomy 21. 13 out of these 16 mothers were aged below 35 years. Thus, after ultrasound, maternal serum screening detects the highest percentage of fetuses with chromosomal abnormalities. At the Department of Obstetrics 2962 serum screening tests were performed during a period of 2 1/2 years. 14.6% of the women were > or = 35 years old, 7.6% showed increased risk and 14 fetuses had an abnormal karyotype including 10 with Down's syndrome. 7 of these 10 were detected by the serum test. Nevertheless, the limited sensitivity of serum screening, its limitation predominantly to detection of fetuses with Down's syndrome and the rather late stage of screening, make effective first trimester screening mandatory.

Adult↗

Prenatal sonographic diagnosis of autosomal recessive polycystic kidney disease (ARPKD) during the early second trimester.

Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary disease with a high neonatal mortality. Currently, prenatal diagnosis is possible only during the second half of pregnancy, when bilaterally enlarged, echogenic kidneys are visible by ultrasound. We describe a case in which a diagnosis of ARPKD was sought in the first half of pregnancy. High-resolution ultrasonography revealed echogenic, normal-sized kidneys at 15 + 4 weeks. Microsatellite DNA analysis of a chorionic villus sample, parental blood, and blood of an affected sibling showed that the fetus had the maternal haplotype and a recombination of the paternal haplotype. Thus, no distinction between homo- and heterozygosity for the ARPKD mutation in the fetus was possible. A further ultrasound examination at 19 + 4 weeks confirmed the previous results, indicating that the fetus was likely to be affected. After termination of the pregnancy, the diagnosis was confirmed on microscopic examination.

Adult↗

Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester?

In a series of 2961 consecutive cases with second-trimester biochemical triple screening for Down's syndrome and neural tube defect (NTD), ten (0.3 per cent) showed an apparent increased risk for both conditions. Three cases had chromosomal abnormalities, namely trisomy 16 confined to the placenta. Since placental trisomy 16 as well as cases with increased alpha-fetoprotein (AFP) and human chorionic gonadotropin (hCG) are associated with (intrauterine growth retardation (IUGR), oligohydramnios, and fetal demise, at least some cases with this atypical biochemical profile could be explained by this chromosomal abnormality. From our results we recommend that in cases with increased risk for both Down's syndrome and NTD, fetal karyotyping should preferably be done on a placental biopsy, especially when ultrasound in the absence of anomalies demonstrates early IUGR.

Adult↗

Limitations of forehead pulse oximetry.

During initial clinical tests to calibrate our reflectance pulse oximetry system, we observed serious physiologic limitations to the use of pulse oximetry in the forehead region. We present a case of simultaneous reflectance and transmission mode pulse oximetry monitoring in a child undergoing cardiac surgery for congenital cyanotic heart disease with a large intracardiac shunt. During general anesthesia, when the patient was endotracheally intubated and mechanically ventilated, the transmission mode saturation agreed well with arterial oxygen saturation measurements; but, our reflectance pulse oximeter, with the sensor applied to the forehead, displayed spuriously lower (-18%) oxygen saturations. Before and after anesthesia and surgery, there was fine agreement between reflectance and transmission mode saturation values. We suggest that the difference was caused by vasodilatation and pooling of venous blood due to compromised venous return to the heart, and a combination of arterial and venous pulsations in the forehead region. This means that the reflectance pulse oximeter measured a mixed arterial-venous oxygen saturation.

Anesthesia, General↗

Reflectance pulse oximetry in neonates.

OBJECTIVE: To test the feasibility and reliability in neonates of an in-house reflectance pulse oximetry (RPOX) system as an alternative method of non-invasive oxygen saturation monitoring when transmission pulse oximetry (TPOX) cannot be used, as in fetal scalp oxygen saturation monitoring during delivery. STUDY DESIGN: The study population consisted of 31 intensive care neonates. The RPOX sensor was attached by suction to the forehead, cheek, occiput and back; recordings were under simultaneous TPOX control. RESULTS: There was close agreement between RPOX and TPOX oxygen saturation and heart rate values, even in periodic breathing. RPOX signals from the back were unreliable because of breathing artifacts. Differences in mean absolute RPOX and TPOX oxygen saturation values were due to different calibrations. Both systems were equally sensitive to motion artifacts. CONCLUSION: As a feasible and reliable method of non-invasive oxygen saturation monitoring in neonates, RPOX has potential applications in fetal scalp monitoring.

Heart Rate↗