bluuebunny/crossref_metadata_2025 huggingface dataset:
Rapid Prenatal Diagnosis of Aneuploidies in Uncultured Amniocytes by Fluorescence in situ Hybridization
Authors: Eiben Bernd , Trawicki Witold , Hammans Wilhelm , Goebel Richard , Pruggmayer Michael , Epplen Jörg T.
Published: April 2003

Objective: A new method in prenatal diagnostics allows to demonstrate certain numeric chromosomal aneuploidies in amniotic cells within 24 h in contrast to conventional methods which take 1–3 weeks. Materials: The experience with this rapid fluorescence in situ hybridization (FISH) method is compared to standard karyotyping and its clinical relevance is described in a large clinical pilot study. FISH on uncultured amniocytes has been performed from 12 weeks of gestation to the third trimester using commercially available chromosome-specific DNA probes for chromosomes 13, 18, 21, X and Y. Results: FISH was performed successfully in 3,150 prenatal cases. All trisomies 13, 18 and 21 and all cases with gonosomal aberrations were detected by FISH analysis. Neither false-positive nor false-negative results were obtained using FISH. For all analyzable disorders the FISH results were in complete agreement with standard cytogenetics. Conclusions: In our experience, FISH is a valuable and reliable method for rapid diagnosis of numeric chromosomal aneuploidies.
Prenatal Diagnosis of a BenignFacial Tumor
Authors: Magalhães José Antônio , Palma-Dias Ricardo S. , Balbinotto Rosi Pereira , da Fonseca Maria Mercedes , Papich Henrique , Freitas Fernando
Published: April 2003

We report a case of prenatal diagnosis of a benign fetal skin tumor on the chin made at 27 weeks of pregnancy by ultrasound scan. We report this case given the uncommon diagnosis and the unique fetal facial profile seen on ultrasound, resembling the image of an ancient Egyptian pharaoh which made us call it ‘Ramses’ sign’ as a future mnemonic aid to sonographers.
Low Neonatal Risk of Thrombocytopenia in Pregnancy Associated with Immune Thrombocytopenic Purpura
Authors: Song Tae-Bok , Lee Ji-Young , Kim Yoon-Ha , Choi Young-Youn
Published: April 2003

Objective: To estimate the risk of neonatal thrombocytopenia in infants born to mothers with immune thrombocytopenic purpura (ITP). Methods: During the years 1993–1997, there were 6,082 deliveries. There were 32 infants born to 31 mothers with ITP. Cordocentesis was performed between 34 and 41 weeks of gestation in 16 mothers with ITP. The cord blood platelet count was checked in all cases at delivery. Results: In mothers with ITP, 5 neonates (15.6%) had mild thrombocytopenia and 7 neonates (21.9%) moderate thrombocytopenia. Severe thrombocytopenia was not observed in any neonate born to mothers with ITP. Conclusions: The means of delivery in pregnant women with ITP can be determined solely on the basis of obstetric indications because the incidence of severe fetal and neonatal thrombocytopenia is very rare, neonatal intracranial hemorrhage is unlikely to be related to the mode of delivery and percutaneous umbilical blood sampling is technically difficult with a risk of fetal death.
Influence of Antenatal Ultrasound on the Management of Fetal Exomphalos
Authors: Holland Andrew J.A. , Ford W.D. Andrew , Linke Rebecca J. , Furness Margaret E. , Hayward Christina
Published: April 2003

Objective: To determine the influence of antenatal ultrasound on the management of exomphalos. Methods: Retrospective case note review of 23 fetuses and infants referred to our institution with either a pre- or postnatal diagnosis of exomphalos over a 7-year period. Results: There were 21 cases of exomphalos of which 18 were correctly diagnosed on antenatal ultrasound by 18 weeks’ gestation. There were 2 false-positives and 3 false-negatives, including 1 case of amniotic band syndrome with an abdominal wall defect and 1 morphologically normal fetus. Associated anomalies were correctly identified in 12 but incorrectly reported in 8. Maternal serum α-fetoprotein levels were abnormal in 61% of cases of abdominal wall defects in this series. Amniocentesis was performed in 12 and cordocentesis in 1. There were 13 terminations, including 2 trisomy 18s and 1 trisomy 13. Two fetal deaths followed amniocentesis. Of the 10 live births, 9 had their exomphalos repaired with a 1-year survival rate of 89%. Prenatal diagnosis did not appear to influence outcome. Conclusions: Antenatal ultrasound diagnosed 86% of cases of exomphalos and correctly reported 67% of associated anomalies. Amniocentesis may have led to the death of 1 morphologically normal fetus.
Idiopathic Intracranial Haemorrhage in the Fetus
Authors: Green P.M. , Wilson H. , Romaniuk C. , May P. , Welch C.R.
Published: April 2003

Intracranial haemorrhage in the fetus has been reported with associated mortality and morbidity. This case report describes idiopathic subdural haematomas diagnosed at 32 weeks of gestation, with delivery by caesarean section of a live male infant in good condition at 34 weeks.
Unexplained Elevated Serum hCG Is Associated with Raised Amniotic Fluid Erythropoietin Levels in Second-Trimester Pregnancies
Authors: Heinonen Seppo , Breymann Christian , Ryynänen Markku , Gautschi Kurt , Huch Renate , Huch Albert , Kirkinen Pertti
Published: April 2003

Objective: This study was designed to investigate the association between the concentrations of maternal serum hCG and amniotic fluid erythropoietin during the second trimester of pregnancy. Methods: In a prospective case-control study, 42 consecutive singleton pregnancies showing unexplained elevated serum hCG concentrations (>2.0 multiples of the median, MoM) in Down’s syndrome screening and 27 control pregnant women undergoing midtrimester amniocentesis because of a previous cytogenetic abnormality were studied. Results: The mean amniotic fluid erythropoietin concentration in the study group was 1.8 (range 0.61–8.7) MoM, whereas it was 1.1 (range 0.71–3.96) MoM in the controls (p = 0.035). A significantly increasing relationship (p < 0.05) was found between the concentrations of maternal serum hCG and amniotic fluid erythropoietin. Conclusions: The results of the current study revealed in vivo the association between elevated hCG and amniotic fluid erythropoietin levels which, in turn, supports the concept of early placental damage. The underlying pathology seems to be sufficient to cause an erythroblastic response.
Improved Specificity of NRBC Detection in Chorionic Villus Sample Supernatant Fluids Using Anti-Zeta and Anti-Epsilon Monoclonal Antibodies
Authors: Mavrou Ariadni , Kolialexi Angeliki , Zheng Yun-Ling , Metaxotou Catherine , Bianchi Diana W.
Published: April 2003

Objective: Fetal erythrocytes leak from fetal capillaries at the time of chorionic villus sampling (CVS). It has been reported that in approximately 60% of CVS cases fetal nucleated red blood cells (NRBC) can be isolated from the supernatant fluid by immunophenotyping with monoclonal antibody (Ab) against the γ-chain of fetal hemoglobin and used as an additional source for confirmation of the fetal karyotype. However, the increased prevalence of β-thalassemia mutations in countries such as Greece results in many pregnant women who produce γ-positive cells. This makes it difficult to distinguish between the fetal and maternal origin of the NRBC. Use of Abs against embryonic hemoglobin chains ζ and ε may increase specificity for fetal NRBC detection. Methods: Mouse monoclonal Abs against Hb-ζ and Hb-ε were used in order to examine if specificity for fetal NRBC detection in CVS supernatant fluids could be improved. 41 samples were studied using anti-ζ and 20 using anti-ε monoclonal Abs. Results: Anti-ζ or anti-ε positive erythrocytes were, respectively, identified in 52 of 61 CVS samples and anti-ζ or anti-ε positive NRBC were present in all cases. The mean number of Hb-positive erythrocytes identified with the anti-ζ Ab was 58 and the mean number of NRBC 29. The mean number of anti-ε positive erythrocytes was 30 and of NRBC 23. FISH with X and Y chromosome specific probes was performed in 26 cases and the results were concordant with the CVS karyotype. Statistical analysis using the correlation test showed that anti-ζ and anti-ε were more specific for the detection of embryonic NRBCs. Conclusions: Since embryonic monoclonal Abs show increased specificity, they should be preferentially used for NRBC detection in CVS supernatant fluids. Furthermore, the increased specificity of anti-ζ and anti-ε Abs may considerably improve prenatal diagnosis from fetal cells isolated from maternal circulation.
Prenatal Diagnosis of a Congenital Bladder Diverticulum
Authors: Gaudet Rodolphe , Heim Nazbanou , Merviel Philippe , Lemercier Delphine , Dumont Alexandre , Audry Georges , Uzan Serge
Published: April 2003

A case of congenital bladder diverticulum diagnosed at 37 weeks of gestation (measured from the first day after the last day of the last menstrual period) is reported. Delivery took place 24 h later. A postnatal urologic work-up confirmed the diagnosis of asymptomatic congenital bladder diverticulum. The infant underwent laparotomic surgery at the age of 6 months, with an extravesical diverticulectomy and ureteral reimplantation. There were no complications. This is the first case reported in the literature of a prenatal diagnosis of a congenital bladder diverticulum. This new aspect allows early management and avoidance of the diagnostic meanders to which the discovery of a pelvic mass might lead, as well as the complications that can follow bladder diverticula.
Serum Enzyme Activities in Premature Infants with Bronchopulmonary Dysplasia
Authors: Zanardo V. , Rizzo L. , Trevisanuto D. , Simbi K.A. , Golin R. , Magarotto M. , Marzari F.
Published: April 2003

Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyltranspeptidase (γ-GT) and lactate dehydrogenase (LDH) activities were measured in 26 premature infants with bronchopulmonary dysplasia (BPD) (group 1), and in 24 premature controls, matched for gestational age and birth weight (group 2). Blood samples were taken serially on 3, 10, 20, 30 and 60 postpartum days. Group 1 and group 2 premature infants showed statistically higher LDH activities on the 3rd postpartum day. These differences disappeared later and LDH activities progressively decreased with time in both premature groups. Mean AST values of group 1 and group 2 premature infants were also significantly higher on the 3rd postpartum day. Subsequently, in all groups, AST showed a postpartal decrease, and a stabilization from the 10th day of life until the 2nd postnatal month. Mean ALT values were instead, comparable on the 3rd postnatal day and subsequently increased, although not significantly. Like the AST, γ-GT of group 1 and group 2 premature infants were slightly more elevated on the 3rd postpartum day. The subsequent decrease was however transitory, and at 1 and 2 postnatal months a noticeable, significant progressive increase in mean values was found. It is concluded that serum ALT, AST, LDH and γ-GT measurement of sick premature infants within the first 2 months of life are not significantly altered by the occurrence of BPD.
Intra-Uterine Fetal DemiseCaused by Amniotic Band Syndromeafter Standard Amniocentesis
Authors: Strauss A. , Hasbargen U. , Paek B. , Bauerfeind I. , Hepp H.
Published: April 2003

The amniotic band syndrome represents a prime example of exogenous disruption of an otherwise normal fetal development. It may be a sequel of invasive diagnostic procedures such as amniocentesis or fetal blood sampling. A 38-year-old gravida II, para II delivered a morphologically normal male stillborn at term. The pregnancy history had been unremarkable but for an early 2nd-trimester amniocentesis. Cause of the intra-uterine fetal demise was noted to be an amniotic band constricting the umbilical cord. An amniotic band is a rare but potentially fatal condition which may be induced by, e.g., invasive prenatal procedures. Such bands are not usually diagnosed prenatally; however, selected patients with augmented risk may profit from intensive ultrasound evaluation including Doppler studies.
Effect of Steroids on Arterial Doppler in Intrauterine Growth Retardation Fetuses
Authors: Senat M.V. , Ville Y.
Published: April 2003

Background: Antenatal steroid administration decreases fetal mortality and morbidity in preterm neonates. However, maternal steroids administration can cause a transient reduction in fetal heart rate variability and can also alter biophysical profile parameters. Other methods to assess fetal well-being in high-risk fetuses are therefore needed, when steroids are given in high-risk pregnancies. Objective: To study the effect of betamethasone and dexamethasone on placental and fetal arterial circulation in 40 growth-retarded fetuses. Methods: Forty fetuses with intrauterine growth retardation were exposed in utero to a single course of betamethasone (n = 25) or dexamethasone (n = 15). Blood flow waveforms were recorded from uterine arteries, umbilical arteries, descending aorta and middle cerebral arteries and analyzed prospectively. Doppler recordings were compared before (baseline), during (24–48 h) and after treatment (4–7 days). Results: No significant changes were found in the pulsatility indices (PI) in any of these vessels during the course and after the treatment was stopped. However, the PI in the middle cerebral arteries showed a trend to decrease 24–48 h and 4–7 days after steroids were given to the mother when compared to pretreatment values. Conclusion: Since antenatal steroids do not seem to affect Doppler measurements, they might be useful to assess well-being in high-risk fetuses during the course. It might allow to differentiate transient iatrogenic changes in fetal heart rate variability from the effect of hypoxemia.
Severe Oligohydramnios with Intact Membranes: An Indication for Diagnostic Amnioinfusion
Authors: Pryde Peter G. , Hallak Mordechai , Lauria Michele R. , Littman Linda , Bottoms Sidney F. , Johnson Mark P. , Evans Mark I.
Published: April 2003

Objective: To quantify the improvement in ultrasonographic fetal imaging following diagnostic amnioinfusion for the indication of unexplained midtrimester oligohydramnios. Methods: Patients referred for unexplained midtrimester oligohydramnios were retrospectively reviewed. Videotapes of those undergoing diagnostic antenatal amnioinfusion were analyzed for quality of visualization of routinely imaged structures before and after the infusion procedure. Results: The overall rate of adequate visualization of fetal structures improved from 50.98 to 76.79% (p < 0.0001). In fetuses having preinfusion-identified obstructive uropathy, there was improvement in identification of associated anomalies from 11.8 to 31.3%. Conclusions: Several authors have suggested that diagnostic amnioinfusion can facilitate fetal imaging and increase diagnostic precision in the setting of unexplained severe oligohydramnios. We have quantified the improvement in the rate of optimal visualization of fetal structures which likely translates, in experienced hands, into this observed improved diagnostic precision. Of particular importance is the improvement in appreciation of associated anomalies in cases of obstructive uropathy in which such findings may determine whether or not invasive fetal therapy is indicated.
Antenatal Diagnosis of Cardiac Malformation: A Structural Study
Authors: Cohen Erik H. , Rein Azaria J.J.T.
Published: April 2003

The purpose of this study was to find out the functional and anatomical relationship between the various cardiac segments in congenital heart disease before and after birth. This study of cardiac pathology focused on 227 fetuses referred to fetal echocardiography because of suspicion of congenital heart defects (CHD) from 1986 to 1991. The heart was imaged and classified according to a division into 7 adjacent segments. Normality or abnormality of each segment and of the general state of the subject’s heart was coded in a binary mode, in which 0 = normal and 1 = pathological. We also coded the extracardiac morphology, noting existence or absence of another extracardiac defect in the fetus. The binary segmental data were entered into a worksheet for further analysis. Observations were conducted prenatally and verified after birth or abortion. Fetal echocardiography was first assessed using conventional statistical analysis. The calculated accuracy and predictive values to diagnose any cardiac defect as well as for correctly coding abnormal or normal cardiac segments were excellent. Then, using HUDAP software (Hebrew University Data Analysis Package), we could demonstrate a perfect fit between the functional and pathological structure of the cardiac segments in the fetus. Moreover, using this unique type of data analysis, we found a multidimensional scaling confirmation of the embryogenesis theory of the heart.
Efficacy and Safety of OK-432 Sclerotherapy for Giant Cystic Hygroma in a Newborn
Authors: Samuel M. , McCarthy L. , Boddy S.-A.
Published: April 2003

Background: OK-432, a lyophilised incubation mixture of group A Streptococcus pyogenes of human origin, was used as a sclerosant for the involution of a giant cervical cystic hygroma in a newborn. Results: There were no systemic side effects. Blood tests and double immune diffusion tests showed no systemic infection or generalised inflammatory response, or antibody production. Cellular and cytokine-induced localised inflammatory reaction within the cystic hygroma, was observed on analysis of the intracystic fluid. Conclusions: The leucocytosis induced and activated by OK-432 probably increases the endothelial permeability of the lymphatics. This probably accelerated lymph drainage leading to involution of the cystic hygroma. Intralesional injection of OK-432 was safe and effective therapy for cystic hygroma in this newborn as its inflammatory reaction was localised.
Sonographic, Cytogenetic and DNA Analysis in Four 69,XXX Fetuses Diagnosed in the Second Trimester
Authors: Fernández-Moya J.M. , Sanz R. , Rodríguez de Alba M. , Ibañez M.A. , Ayuso C. , Díaz-Recasens J. , Robledo M. , Ramos C.
Published: April 2003

Objective: To describe the ultrasound findings and its relationship with the cytogenetic study and the origin of the extra haploid chromosome set in four 69,XXX cases. Methods: Four pregnant women were referred because of abnormal 2nd trimester ultrasound. Karytoypes, FISH and DNA analysis were performed. Results: All cases presented asymmetrical intrauterine growth retardation, marked oligohydramnios and placental alterations and showed a 69,XXX karyotype. In three cases, DNA analysis allowed to establish the origin of the extra haploid chromosome set. Conclusions: At least three fetuses had a maternal extra haploid chromosome set. Thus, it has been possible to establish the main ultrasonographic markers and to observe the survival of the fetus until the second trimester when they have a maternal origin.
In utero Diagnosis of Trichothiodystrophy by Endoscopically-Guided Fetal Eyebrow Biopsy
Authors: Quintero Rubén A. , Morales Walter J. , Gilbert-Barness Enid , Claus Jennifer , Bornick Patricia W. , Allen Mary H. , Ackerman Jeanne , Koussef Boris
Published: April 2003

Objective: To describe the prenatal diagnosis of trichothiodystrophy (TTD) through endoscopically-guided fetal eyebrow biopsy. Materials and Methods: A 32-year-old patient, gravida 4, para 3, with a history of 2 previous infants affected with TTD was referred at 175/7 weeks for fetal hair biopsy. DNA repair studies had been normal in the previous children. Four 1-mm biopsies were obtained from the external aspect of the fetal eyebrows under direct endoscopic guidance. Fetal hair samples were assessed with polarized microscopy, electron microscopy, hematoxylin and eosin staining, and were also sent for analysis of sulfur content (cystine levels). Results: The fetal eyebrows were the only adequate source of hair in the early second trimester. The biopsy samples yielded adequate material for all tests. Polarized microscopy showed characteristic banding patterns, but trichoschisis was not apparent. Cystine levels (19 μmol/l) in the biopsy sample were significantly lower than an age-matched (fresh spontaneous abortion) control (368 μmol/l). Conclusion: Prenatal diagnosis of TTD is possible in the second trimester through endoscopically-guided eyebrow biopsy. An adequate amount of hair is present in the eyebrows by then, and the disease is already manifest. Analysis of sulfur content of the hair samples is preferred over polarized or electron microscopy, as many classic microscopic findings of TTD may not be present in the early second trimester.
Multiple Cardiac Rhabdomyomas Detected in utero
Authors: Choi Janet M. , Jaffe Richard , Maidman Jack , Baxi Laxmi V.
Published: April 2003

Prenatal fetal echocardiography studies detected large multiple cardiac rhabdomyomas and led to the diagnosis of tuberous sclerosis. Despite episodes of bradyarrhythmias and severe lung compression in utero, the neonate did well and was discharged home on day 20 of life. On day 30 of life, the infant expired at home from cardiac arrest secondary to arrhythmia.
Predictive Factors of Fetal Urethral Obstruction: A Multivariate Analysis
Authors: Oliveira Eduardo A. , Diniz José S.S. , Cabral Antônio C.V. , Pereira Alamanda K. , Leite Henrique V. , Colosimo Enrico A. , Vilasboas Aranaí S.
Published: April 2003

Objective: The purpose of this study was to identify predictive factors of fetal urethral obstruction. Methods: One hundred and forty-eight children with fetal hydronephrosis were admitted, submitted to a systematic protocol and prospectively followed. Possible predictive factors of urethral obstruction associated with fetal echography and clinical findings on admission were studied. The analysis was conducted in two steps. In a univariate analysis, variables associated with urethral obstruction were identified by the χ2 test or by Fisher’s exact test. Then, the variables that were significantly associated with urethral obstruction were included in a multiple logistic regression analysis. Results: After final adjustment by multiple logistic regression analysis, only two variables were identified as independent predictors of fetal urethral obstruction: oligohydramnios (odds ratio, OR = 5, 95% confidence interval, CI, = 1.3–15, p = 0.01) and megacystis (OR = 9, 95% CI = 2.0–40, p = 0.004). The sensitivity and specificity of the combination of both variables were 60 and 98.5%, respectively. Conclusions: The presence of oligohydramnios and megacystis on prenatal ultrasound is highly predictive of fetal urethral obstruction.
Influence of Amnioinfusion in aModel of in utero Created Gastroschisi s in the Pregnant Ewe
Authors: Luton D. , de Lagausie P. , Guibourdenche J. , Peuchmaur M. , Sibony O. , Aigrain Y. , Oury J.F. , Blot P.
Published: April 2003

Objective: Recent studies on the management of human fetal gastroschisis have produced two major findings: (1) there is an inflammatory response in the amniotic fluid of these fetuses, and (2) amniotic fluid exchange designed to disrupt the inflammatory loop seems to have a favorable impact on the immediate and late outcome of these early operated neonates. To test this hypothesis, we used serial amniotic fluid exchanges in a model of gastroschisis developed in the ewe. Methods: Gastroschisis was created at midgestation in 21 lamb fetuses by an in utero technique. Saline was amnioinfused in some fetuses every 10 days to term. Fetuses were sacrificed on day 145 by cesarean section. Extra-abdominal bowels with fibrous peel were processed for histologic examination. Comparisons were done between fetuses without gastroschisis (controls), fetuses with gastroschisis and amnioinfusion, and fetuses with gastroschisis without amnioinfusion. Results: Of 21 fetuses operated, 8 died in utero or were stillborn; 5 were not amnioinfused, and 8 underwent amnioinfusion. Thickness of bowel muscularis (μm) was 92.6 ± 20.2 for controls, 126.2 ± 21 for the amnioinfused fetuses, and 182.8 ± 58.3 for the nonamnioinfused fetuses (p = 0.001). The same significant results were obtained for thickness of serous fibrosis (p = 0.02) and plasma cell infiltration (p = 0.015). Conclusions: We have created a model of gastroschisis suitable for experimentation in the fetal sheep. Our amnioinfusion data in this model indicate a clear improvement of the deleterious process. This finding correlates well with recent data on amnioinfusion as a therapeutic approach to human gastroschisis.
Influence of Alternative Birth Methods on Traditional Birth Management
Authors: Eberhard Jakob , Geissbühler Verena
Published: April 2003

Background: Because of popular demand for more natural childbirth, a new concept was introduced in 1991 in our clinic. It consisted of careful monitoring and birth management, restrictive use of invasive methods, and free choice of different birth methods including waterbirths and other alternative birth methods. Our aim was to determine the influence of our new birth concept on the way women give birth and on the birth management in our clinic. Methods: In a total of 9,418 births between 1991 and 1997 [new birth concept KSF (KSF = Kantonsspital Frauenfeld)], the changing pattern of birth methods and birth management in our clinic under the influence of the new birth concept were analysed. The results were compared to a historical group in our clinic, a total of 5,602 births from 1986 to 1990, and to data from a contemporary group from Swiss clinics, a total of 344,328 births from 1986 to 1997. Findings: Our study shows that alternative birth methods are very popular. The waterbirth rates have risen steadily and stabilized at around 40–50% of the spontaneous births. The Maia-birthing stool births rates reached a peak of popularity in 1993 (23%) 5 years after their introduction, dropping again to 10% of the spontaneous births. The bedbirth rates have stabilized at around 40% of the spontaneous births. Other birth methods such as standing, supported by a rope, on the mat or on all fours are much less popular. The impact of our new birth concept on different aspects of birth management differs greatly from one to another. The episiotomy rate has dropped from a previous rate higher than 80% to a rate lower than 15%. The caesarean section rate in our clinic (around 10%) has remained substantially below the Swiss average (around 15%). The rate of the spinal and epidural analgesia was maintained at a constant level, around 13%, while the Swiss average rates doubled and reached 23% in 1997. The induction and amniotomy rates as well as the use of oxytocin were not influenced by the new birth concept and are comparable to the Swiss average. Conclusion: Alternative birth methods and in particular waterbirths are very sought after. This popular pressure insisting upon less invasive, more natural birth management can be well integrated into the security-oriented way of thinking of classical medicine. In our clinic the general trend towards more invasive measures in birth management could be countered by the introduction of a new birth concept with alternative birth methods.
Prenatal Diagnosis of Body Stalk Anomaly at 9 Weeks of Gestation
Authors: Becker Rolf , Runkel Sanyukta , Entezami Michael
Published: April 2003

We report on a case of embryonic anomaly detected at 9 + 5 gestational weeks. The lower part of the embryo was located in the coelomic cavity. Lower extremities could not be depicted. The abdominal wall showed the appearance of omphalocoele. After termination of pregnancy at 10 weeks, autopsy confirmed the anomaly of the lower embryonic parts consistent with the diagnosis of body stalk anomaly. To our knowledge, this is the first observation of this condition before 10 gestational weeks.
Aneuploidy and Isolated Mild Ventriculomegaly
Authors: Terry Melissa , Calhoun Byron C. , Walker William , Apodaca Christina , Martin Laura , Pierce Brian , Hume Roderick F. , Evans Mark I.
Published: April 2003

Background: Does the prenatal ascertainment of isolated mild ventriculomegaly increase the a priori risk for aneuploidy when isolated or not associated with advanced maternal age? Does isolated mild ventriculomegaly increase the risk for pediatric developmental delay? Methods: The Wayne State University (WSU) Reproductive Genetics abnormal case data base and the Madigan Army Medical Center (MAMC) experience were reviewed to compare the rates of aneuploidy for cases with fetal ventriculomegaly. Cases were classified by maternal age and associated sonographic markers of aneuploidy. Aneuploidy rates were compared between the isolated ventriculomegaly, ventriculomegaly with advanced maternal age (AMA), and ventriculomegaly associated with multiple anomalies. Rates of aneuploidy were compared to identify association. Results: A total of 118 cases with ventriculomegaly were identified for comparison. Ninety-four cases were identified in the WSU cohort; 46 demonstrated isolated ventriculomegaly alone, and aneuploidy was present in 3/25 (12%) with invasive fetal testing, 0/24 (0%) cases in the MAMC cohort demonstrated aneuploidy. Isolated mild ventriculomegaly cases at MAMC were identified for further tests. Discussion: Although the two study populations vary in age and risk distributions, the attributable risk for isolated mild ventriculomegaly poses a counseling conundrum due to the neurodevelopmental implication of this minor dysmorphism more so than its association with aneuploidy.
Prenatal Diagnosis of Smith-Magenis Syndrome (del 17p11.2)
Authors: Thomas Dafydd G. , Jacques Suzanne M. , Flore Leigh Anne , Feldman Baruch , Evans Mark I. , Qureshi Faisal
Published: April 2003

Smith-Magenis syndrome is associated with a microdeletion of the short arm of chromosome 17 with phenotypic abnormalities including dysmorphic facies, self-injurious behavior, mental and neurologic disturbances, and congenital cardiac defects. The majority of patients present in mid-childhood or adulthood. We describe a fetus in which the diagnosis of Smith-Magenis syndrome was made at 16 weeks of gestation following amniocentesis for increased risk for Down syndrome detected by second-trimester maternal serum screening. Ultrasound evaluation revealed multiple fetal anomalies. The pregnancy was terminated at 20 weeks of gestation. Post-mortem findings included dysmorphic facial features, tetralogy of Fallot, a thymic duct remnant, pancreatic islet cell hyperplasia, and abnormal lung fissuring. This represents the second case of prenatally diagnosed Smith-Magenis syndrome. Molecular genetic techniques in the diagnosis of the Smith-Magenis syndrome and other small deletions are becoming an important tool in the genetic evaluation of ultrasound abnormalities.
Fetal Obstructive Uropathy in Trisomy Syndromes
Authors: Qureshi Faisal , Jacques Suzanne M. , Feldman Baruch , Doss Barbara J. , Johnson Anthony , Evans Mark I. , Johnson Mark P.
Published: April 2003

Fetal obstructive uropathy has seldom been described in trisomy syndromes, and its relationship to these syndromes remains unclear. Five trisomic male fetuses, four with trisomy 18 and one with trisomy 21, were identified out of 110 fetuses evaluated for fetal obstructive uropathy. We performed detailed examination on the urinary tracts of four of these fetuses, three with trisomy 18 and one with trisomy 21, following termination in the second trimester. All four had a markedly distended urinary bladder (megacystis), abdominal wall distension, and a small, poorly developed urethra thoughout its full length. All four also had poor development of the prostate with virtual absence of glandular development, as compared to age-matched controls. Posterior urethral valves were not identified in any case. Three of the fetuses (two with trisomy 18 and one with trisomy 21) had unilateral or bilateral hydroureters, and resulting renal tubulocystic or glomerulocystic change. Review of this database reveals an unexpectedly high frequency of trisomies, particularly trisomy 18, suggesting that the relationship may not be coincidental. Abnormal prostate development may be causally related to fetal obstructive uropathies and may be an under-recognized trait in trisomy syndromes. Karyotypic analysis of all fetuses with obstructive uropathy is important since in utero surgical intervention may be contraindicated in cases of fetal aneuploidy.
Public Awareness of Stuttering
Authors: van Borsel John , Verniers Inge , Bouvry Sofie
Published: April 2003

The results are reported of a questionnaire study into the awareness of stuttering of lay persons in part of Belgium. 1,362 subjects were interviewed. Questions pertained to various aspects of stuttering including prevalence, onset, gender distribution and occurrence in different cultures, cause, treatment, intelligence and hereditariness. Although most respondents were to some extent familiar with stuttering, their overall knowledge of the disorder appeared generally limited.
Ultrasound and Swallowing
Authors: Watkin Kenneth L.
Published: April 2003

Diagnostic ultrasound plays an important role in logopedics and phoniatrics. In this article the basic principles of ultrasound are introduced along with the various ultrasonic methods used for assessment and intervention: B-mode, TM-mode, spectral Doppler, color Doppler and enhanced color Doppler. The application of each method to the study of swallowing is explored along with recent state-of-the-art advances in three-dimensional ultrasonic imaging of the upper airway.
Behavioral Management for Oropharyngeal Dysphagia
Authors: Logemann Jeri A.
Published: April 2003

Behavioral management of oropharyngeal swallowing disorders includes the introduction of compensatory strategies and direct therapy techniques. Compensatory strategies include postural changes, sensory enhancements, changing feeding strategies, diet changes and intraoral prosthetics. Therapy procedures include exercise programs and swallowing maneuvers. This article describes the various behavioral therapy procedures and presents their physiologic rationales and advantages and disadvantages and suggests ways to measure their effectiveness.
Task-Based Profiles of the Dysarthrias
Authors: Kent Raymond D. , Finley Kent Jane
Published: April 2003

The dysarthrias are associated with a variety of motor disturbances distributed over several motor systems of speech production. The features of a given dysarthria often vary with the speaking task, and this task-dependency affords insights into the responsible neural lesion and its effects on the motor regulation of speech. Each task also is amenable to quantitative analyses with acoustic or physiologic methods, and these analyses may redefine the value of these speaking tasks. This article considers task-based analyses for the dysarthrias associated with Parkinson’s disease, cerebellar disease, and stroke.
Evoked Potentials and Electroencephalography in Stuttering
Authors: Khedr Eman , El-Nasser Waguih Abd , Abdel Haleem Emad K. , Bakr M. Salama , Trakhan Mohamed N.
Published: April 2003

The study was aimed at finding what factors in evoked potentials and EEG related to stuttering in subjects 6–25 years of age. Thirty-seven subjects who stuttered and 25 nonstuttering subjects, matched for age, sex and education, were evaluated employing visual evoked potentials, auditory evoked potentials, event-related potentials (P300), WISC-(IQ), and electroencephalography. A significant reduction of amplitude of P100 of visual evoked potentials was found in stutterers with a significant prolongation of wave latencies I, III, V and interpeak latencies I–III and I–V in brainstem auditory evoked potentials. No significant abnormalities were recorded in P200, N200 and P300 of event-related potentials in stutterers compared with the control group. The dominant EEG rhythm was slower in stutterers with a significant interhemispheric asymmetry compared with the control group. Fifty-four percent of the stutterers had pathological EEG. Epileptiform activities were recorded in 16.2% of stuttering subjects. Focal left temporal spike activity was recorded in 5.4% of stuttering subjects. The findings of this study point to a possible role of an organic etiopathogenesis of stuttering.
Developing a Language Screening Test for Arabic-Speaking Children
Authors: Wiig Elisabeth H. , El-Halees Yousef
Published: April 2003

This report gives an account of general and specific issues associated with developing an Arabic-language screening test for children aged between 3 and 12 years. Challenges, dilemmas and stages in the developmental process are discussed. The development of the Arabic Language Screening Test: Preschool and School Age illustrates the process. Issues and stages included: (1) arriving at a consensus about scope and purpose; (2) conceptualizing tasks and items; (3) specifying item content and structure; (4) field-testing the screening tool in a circumscribed environment; (5) developing a robust scoring and interpretation system for determining Pass or Fail, and (6) establishing the degree of accuracy in differentiating children with and without language disorders. The product is a screening test of verbal and related nonverbal abilities with parallel components for children of preschool (3–5 years) and elementary school age (6–12 years). Normative data were collected for 750 Arabic-speaking children in Jordan and Palestine, distributed fairly equally between the ages of 3 and 12 years. Normative means increased with age and standard deviations decreased. Interscorer agreement (99%), internal consistency (Cronbach alpha = 0.98) and diagnostic sensitivity (over 90% accuracy) were high. Constraints and limitations in the development of the test are described and discussed from both objective and personal perspectives.
Social Structure and Seasonal Variation in the Behaviour of Eulemur mongoz
Authors: Curtis Deborah J. , Zaramody Alphonse
Published: April 2003

Data presented here were collected during a 10-month study carried out on the mongoose lemur, Eulemur mongoz, at Anjamena in northwestern Madagascar. Baseline information is provided on behaviour and assessed for seasonal variation. Given the highly seasonal nature of the environment, remarkably little behavioural variation was observed. This may be directly linked to the cathemeral activity pattern, where differential movement into either the diurnal or the nocturnal ‘niche’ could reduce the effect of selective seasonal pressures, thus reducing behavioural and ecological adaptation to seasonal variation. The behavioural mechanisms of reinforcement of the pair bond through close proximity, mutual anogenital marking, paternal participation in the care of offspring and territoriality are all in accord with the general characteristics of monogamy in primates. The feature of mate monopolization by males, proposed as typical of monogamous social systems, seems to be more attributable to females in E. mongoz, as only they exhibit high levels of intrasexual aggression. Female dominance, characteristic of most species of lemur, may thus include more than just female feeding priority in E. mongoz.
Mosaic Evolution in the Origin of the Hominoidea
Authors: Rae Todd C.
Published: April 2003

The initial appearance of hominoids, or apes, and the selective pressures that led to their emergence are currently disputed. Central to the argument are the proconsulids, variously described as the earliest apes or as stem catarrhines, based on facial and postcranial data, respectively. The present paper reports on incongruence and parsimony analyses applied to a combined data set. The results demonstrate that proconsulids are cladistic hominoids, and that the apparent incongruence between the data sets is due to mosaic evolution; the earliest changes in Hominoidea occurred in the face. These results suggest that the initial divergence of hominoids involved selection for an ape-like face, and was not driven by an adaptive shift to below-branch locomotion.
Preliminary Vocal Repertoire and Vocal Communication of Wild Bonobos (Pan paniscus) at Lilungu (Democratic Republic of Congo)
Authors: Bermejo M. , Omedes A.
Published: April 2003

Vocal communication in bonobos, Pan paniscus, has been studied mainly in captive groups. The few studies carried out in the wild are on only specific aspects of their behaviour. The aim of this study is to give a preliminary description of the vocal repertoire and a qualitative account of the contextual use of the vocalizations described. Observations were carried out on three wild communities, with a total of 68 individuals, for 685 h. No artificial feeding was used at any stage of the study. The vocal repertoire is composed of 15 vocal units and 19 sequences. There is great variability both in the sequences and in the vocal units, and the categories are not always completely discrete. The repertoire is compared to that of captive bonobos described by De Waal. Most sequences are used in various contexts, and for each behaviour there is a complete array of sequences and their variation. The behaviour patterns observed and the sequences uttered by the animals in each context are discussed.
Allocare Patterns among Cercopithecines
Authors: Chism Janice
Published: April 2003

Cercopithecines show two general patterns of allocare. Many guenons permit extensive contact with young infants, while most baboons and macaques restrict early contact. Here social, ecological and life history variables among cercopithecines are examined for evidence of relationships with allocare patterns. This analysis suggests that in this group early allocare is most extensive in species with relatively relaxed social relationships among females, marked seasonal breeding and rapid rates of reproduction.
Abnormal Substrate Levels That Depend upon Mitochondrial Function in Cerebrospinal Fluid from Alzheimer Patients
Authors: Redjems-Bennani Nabila , Jeandel Claude , Lefebvre Emmanuelle , Blain Hubert , Vidailhet Michel , Guéant Jean-Louis
Published: April 2003

Background: Impaired oxidative and energy metabolism are important features in Alzheimer’s disease. These metabolic abnormalities may induce functional disturbances and are associated with significant cognitive impairment. Objective: To determine whether mitochondrial function is altered by Alzheimer’s disease, a quantitative analysis of substrates that enter the tricarboxylic acid cycle was carried out in cerebrospinal fluid (CSF) from Alzheimer patients. Methods: Organic acid levels related to carbohydrate oxidation were measured in CSF from patients affected by dementia of Alzheimer type (n = 17) and from nondemented elderly controls (n = 17) using a gas chromatography/mass spectrometry system. CSF glucose and glutamine concentrations were determined by a quantitative enzymatic method and by ion exchange chromatography, respectively. Results: Compared to age-matched controls, patients had a higher CSF level of lactate (p = 0.002) and a lower mean level of succinate (p = 0.002), fumarate (p = 0.003) and glutamine (p = 0.0005). The CSF glucose level was not modified. Conclusion: Our results suggest an impairment of mitochondrial oxidative metabolism in brain cells of patients with Alzheimer’s disease.
Toward Understanding Age-Related Memory Loss in Late Adulthood
Authors: Luszcz Mary A. , Bryan Janet
Published: April 2003

Background: While laboratory tests indicate that older adults typically perform more poorly than do younger adults on many types of memory tasks, the question arises as to whether, or to what extent, it is valid to attribute these differences to ageing per se or to some variable or class of variables that intervene between age and remembering. Objective: The purpose of this review is to present three current views that might explain the relationship between age and remembering. They can be construed as variants on resource theories and include: the processing speed hypothesis, the executive function hypothesis, and the common cause hypothesis. Methods: The review samples results pertinent to these hypotheses that derive from behavioural research. Studies involving various imaging techniques were considered beyond the scope of the review. Results: The balance of research strongly implicates reductions in the speed of information processing as a fundamental contributor to normal age-related memory loss. Nonetheless there are circumstances where other mechanisms, such as working memory, executive function, and sensory processes, are important. Conclusion: Despite the phenomenological and empirical reality of age-related memory loss and the breadth of attempts to explain it, much work remains to be done to understand why it occurs. Contemporary debates about the nature and means of identifying shared and unique effects promise to shape future directions for research on memory aging.
Relationship among Activities of Daily Living, Apathy, and Subjective Well-Being in Elderly People Living Alone in a Rural Town
Authors: Yamashita Kazuya , Iijima Kenichi , Kobayashi Shotai
Published: April 2003

Background: There are limited psychological data on the quality of life and activities of daily living among elderly Japanese who live alone. Objective: The aim of this study was to examine the frequency of apathy and its correlation with activities of daily living and with subjective well-being in elderly people living alone in a depopulated rural area. Methods: We evaluated 96 individuals aged 70 years or older (mean age 77.8 years) who lived alone at home in a rural town. To evaluate activities of daily living, apathy, and subjective well-being, the Tokyo Metropolitan Institute of Gerontology Competence Index, the Apathy Scale, and the Philadelphia Geriatric Center Morale Scale (subjective well-being scale) were used. Results: Of the 96 subjects, 94 (97.9%) showed apathy. The total score of the index of activities of daily living was primarily related to age and the apathy score and less to the PGC Morale Scale score. Conclusion: These findings demonstrate that apathy in subjects who live alone appears to exert a marked effect on their ability to perform routine activities of daily living.
Low Levels of High-Density Lipoprotein Cholesterol Are a Marker of Disability in the Elderly
Authors: Zuliani Giovanni , Romagnoni Franco , Bollini Cristina , Leoci Vincenzo , Soattin Lucia , Fellin Renato
Published: April 2003

Background: In the elderly, high-density lipoprotein cholesterol (HDL-C) seems to have further clinical meanings besides the inverse relationship with coronary heart disease (CHD); indeed, low values have been found in elderly subjects with functional disability, chronic illness, and in severe clinical conditions. Objective: To verify the hypothesis that low HDL-C might be a ‘marker’ for disability, we evaluated the relationship between lipoprotein parameters and functional status, over a period of 2 years, in a large sample of institutionalized elderly. Methods: 344 institutionalized subjects aged over 65 years were studied. They were divided into two groups according to basal disability level: ‘low–mild’: class A–E, and ‘high’: class F–G of the Katz index. 124 survivors, independent in at least two basic activities of daily living (BADL) at enrollment, were divided into two groups on the basis of 2 years’ modifications in functional status: stable/improved or worsened (lost ≥2 BADL). Results: Total cholesterol, LDL-C, HDL-C, and apo A-I levels were lower in the high disability group, while no differences in triglycerides and apo B levels emerged. Multiple logistic regression analysis showed that severe disability was associated with HDL-C (II vs. III tertile: OR 2.01; CI 95% 1.04–3.91; I vs. III tertile: OR 2.52; CI 95% 1.23–5.15), total cholesterol (I vs. III tertile: OR 2.35; CI 95% 1.14–4.81), blood glucose (OR 0.98), and body mass index (OR 0.91), independently from uric acid, number of pathologies, number of drugs, body cell mass, vitamin B12 and folic acid plasma levels, waist/hip ratio, age, and gender. Subjects who lost ≥2 BADL in the 2-year follow-up consistently showed lower basal HDL-C levels compared to subjects with stable/improved functional status, and this difference was significant after adjustment for basal Katz class, age, gender, number of pathologies, blood glucose, body mass index, and waist/hip ratio. Conclusions: The results of this study suggest that in the elderly severe disability is strongly associated with low HDL-C levels. Longitudinal data support the hypothesis that low HDL-C might be considered as a marker for ‘ongoing’ disability in BADL.