Beckwith-Wiedemann syndrome: antenatal diagnosis

The Beckwith-Wiedemann syndrome is an unusual complex with variable features. The major findings include abdominal wall defects, macroglossia and visceromegaly. These features should be amenable to antenatal ultrasound detection. Only a few such cases have been reported to date. Antenatal diagnosis allows optimum perinatal care. Hypoglycaemia in the neonatal period is common in these babies and requires early detection and appropriate management to prevent long-term intellectual complications. We present a case where the diagnosis was suggested prior to delivery.     

The antenatal diagnosis of sacrococcygeal teratoma

The teratomas are rarely met with the newborn and the sacrococcygeal teratomas are the most often among them. A private case is detailedly described, correctly diagnosed antenatally by the ultrasound method, the clinical session and the outcome of the pregnancy. In the discussion the theories of their origin are shown, the anomalies connected with them and the delivery. The opinions of other authors on this matter have been quoted.     

Early antenatal ultrasound diagnosis of fetal intracranial teratoma

The commonest fetal intracranial tumour is a teratoma. The prognosis is poor with death usually occurring shortly after birth. Modern high resolution ultrasound scanners facilitate examination of the cranial contents, allowing earlier diagnosis. We report a case where an intracranial teratoma was identified at 21 weeks gestation, the earliest gestational age that this has been reported. The ultrasound appearances are discussed.     

Malrotation in newborns following antenatal diagnosis of intra-abdominal cyst

The neuronal ceroid lipofuscinoses (NCLs) are a group of inherited degenerative neurological diseases affecting children. A number of non-allelic variants have been identified within the human population and the genes for some of these have recently been identified. The underlying mechanism for the neuropathology remains an enigma; however, pioneering studies with the naturally occurring ovine model (OCL) have led to the proposal that these diseases represent lesions in specific hydrophobic protein degradation pathways. In this study, we show linkage between OCL and microsatellite markers on OAR 7q13-15. Using interspecies chromosome painting we establish that OAR 7q13-15 is syntenic with human chromosome 15q21-23, the region which was recently defined as the location of a newly identified late infantile variant (CLN6). We propose that our ovine model represents a mutation in the gene orthologous to that mutated in the human late infantile variant CLN6. The ovine linkage flock, consisting of 56 families, represents a powerful resource for positional cloning of this NCL gene. The availability of such a large animal model will have important implications for experimentation in downstream corrective therapies.     

Haematological aspects of antenatal diagnosis for thalassaemia in Britain

The results are described of 200 antenatal diagnostic tests for haemoglobinopathies performed on samples of fetal blood obtained during the second trimester of pregnancy. Haemoglobin A synthesis in the fetus was measured by incorporation of tritiated leucine in vitro and separation of the globin chains on CM23 columns. The range of HbA synthesis detected was 3.5-8.0% in normal fetuses, 2.0-5.0% in fetuses with thalassaemia trait, and less than 1.6% in fetuses with thalassaemia major. There were eight cases in which other haemoglobinopathies were diagnosed. 29% of the pregnancies were terminated because thalassaemia major was diagnosed, and 9.5% of the remaining healthy fetuses were lost for obstetric reasons. Follow up has been possible for 96% of the 124 surviving babies and three misdiagnoses have come to light; one false positive (0.5%) and two false negatives (1%). These figures represent a first effort at antenatal diagnosis for haemoglobinopathies and it is likely that they will improve with the passage of time.     

Rapid enlargement of a choledochal cyst: antenatal diagnosis and delayed primary excision

A case of choledochal cyst (CC) antenatally diagnosed at 29 weeks' gestation is reported. Rapid enlargement of the cyst soon after delivery resulted in complete gastric outlet obstruction (GOO). The lesion was treated by external drainage as a temporary maneuver, with delayed cyst excision and hepaticoduodenostomy at the hepatic hilum performed at 81 days of age. Surgical treatment of CC in early infancy has been reported to be safe and effective. However, delayed primary excision would be an alternative procedure, especially in rare cases showing rapid enlargement resulting in GOO, since this choice has the potential advantage of allowing weight gain and improved nutritional status without risking interim complications due to the drainage procedure.     

Amniocentesis for antenatal diagnosis. Review of problems and outcomes in a large series

The results of amniocentesis for diagnostic genetic studies on 242 patients are presented in detail. These suggest that obtaining fluid free from contaminating red blood cells is important to successful cell culture. The data also suggest that it is technically more difficult to obtain such fluid tham might be expected, despite the use of ultrasonic localization and experienced operators. Nevertheless, 97 per cent of patients who elect to complete antenatal diagnosis will ultimately obtain the information sought, in time to intervene medically if desired. Moreover, the act of obtaining this information is shown to be without significant risk to the ultimate outcome of pregnancy.     

Methods of early diagnosis and prevention of occupational mercury poisoning

Five intraventricular injections of phytopreparations lohein and abisib in a dose of 0.2 or 0.5 ml stimulated dose-dependently the development of a T-dependent and T-independent immune responses in rats kept on the usual diet, and increased or normalized the development of these processes in rats kept on a atherogenic diet. The drugs lessened lipid peroxidation and the biochemical syndromes of hepatocyte affection in animals given an atherogenic diet. The immunomodulating effect of phytopreparations is mediated by cytokines of adherent and nonadherent splenic cells, the biochemical effects only by cytokines of adherent splenocytes.     

The liver biopsy diagnosis of Wilson's disease. Methods in pathology

The authors present a simple liver biopsy protocol that is a reliable and cost-effective method of diagnosing hepatic Wilson's disease. Biopsy specimens are obtained in routine fashion, without the need for copper-free solutions or instruments. The samples are then embedded in paraffin, stained for copper and copper-associated protein, and studied by light microscopy. Subsequently, a sample of hepatic parenchyma is excised from the paraffin block for chemical quantitation of tissue copper. This combination of methods generally yields reliable results and allows confirmation of the diagnosis in cases of Wilson's disease in which special stains for copper are negative. In most instances, electron-microscopic studies are not necessary.     

Clinical relevance and implications of antenatal hydronephrosis

Detailed antenatal sonography was performed on 18766 pregnant women between 1990 and 1994. Antenatal hydronephrosis, defined as an antero-posterior diameter of the renal pelvis (APPD) greater than 5 mm, was detected in 100 cases (0.59%). Sixty four infants had postnatal hydronephrosis at one and/or six weeks after delivery; 21 of these had urological anomalies. Twelve infants had vesico-ureteric reflux. In all refluxing units the APPD of the renal pelvis was less than 10 mm. Three patients had obstruction at the pelviureteric junction (PUJ); all required surgery. Vesico-ureteric reflux is emerging as the most common urological finding in infants with antenatal hydronephrosis and is likely to be missed if kidneys with APPD of less than 10 mm are not further investigated. In contrast, pelvi-ureteric junction obstruction may be overdiagnosed, based only on drainage patterns of dynamic renogram studies.     

Naturalistic conceptions of moral maturity.

By examining naturalistic conceptions of moral maturity, this project sought a more comprehensive understanding of moral excellence than is evident in dominant theories of moral development. Studies 1 and 2 involved different samples of 120 adults (17–25, 35–55, and 65+ years). Study 3 involved a sample of 180 undergraduates. In Study 1, a free-listing procedure was used to generate the attributes of a highly moral person as well as those for two related person-concepts. In Study 2, a rating procedure for these attributes was used to generate a prototype of the moral person-concept. In Study 3, a similarity-sorting task was used to uncover people's implicit typology of moral maturity. The findings indicate that naturalistic notions of moral excellence not only contain themes of principled reasoning but also reference aspects of moral character and virtue that enlarge our understanding of the psychological functioning of the mature moral agent. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Amniotic fluid and fetal maturity

The lecithin/sphingomyelin ratio in amniotic fluid is a method of predicting fetal lung maturity. The L/H ratios in certain high risk pregnancies are poorly correlated with the shake test. The L/S ratios in drug addiction methadone pregnancies and diabetic pregnancies do not have a high degree of correlation with normal L/S ratios after 36 weeks of gestation and are often low.     

The effect of combined antenatal vitamin K and phenobarbital therapy on umbilical blood coagulation studies in infants less than 34 weeks' gestation

OBJECTIVE: To determine if antenatal vitamin K and phenobarbital therapy affect coagulation studies in umbilical blood at birth, and to provide 95% reference ranges for umbilical blood coagulation parameters in premature gestations. METHODS: Patients at imminent risk for spontaneous or indicated premature delivery less than 34 weeks' gestation were randomized to receive either placebo or vitamin K and phenobarbital. Prothrombin time (PT), activated partial thromboplastin time (PTT), functional coagulation factors, and decarboxylated prothrombin assays were performed on umbilical blood specimens. Decarboxylated prothrombin, also known as "protein induced by vitamin K absence-factor II" or precursor prothrombin, is a sensitive marker for vitamin K deficiency. Standardized values of PT and PTT are reported in seconds and standardized values of factor assays in percentage of normal adult functional activity (mean +/- one standard deviation). RESULTS: Newborns in the placebo and treatment groups had similar umbilical blood PT (12.6 +/- 1.2 versus 12.7 +/- 1.4 seconds), PTT (48.8 +/- 13.4 versus 49.6 +/- 13.8 seconds), and functional activity of factor II (40.3 +/- 12.5 versus 42.0 +/- 12.1%), factor VII (67.0 +/- 20.9 versus 66.8 +/- 18.9%), factor IX (27.4 +/- 12.8 versus 25.8 +/- 8.9%), and factor X (47.0 +/- 12.8 versus 49.2 +/- 11.6%). Newborns in the treatment group were about half as likely as those in the placebo group to have detectable decarboxylated prothrombin levels in umbilical blood at birth (gestational age-adjusted odds ratio 0.47, 95% confidence interval 0.22-1.01; P = .05). CONCLUSIONS: Combined maternal therapy with vitamin K and phenobarbital before premature delivery does not affect umbilical blood PT, PTT, or functional activity of vitamin K-dependent coagulation factors II, VII, IX, and X. However, it is associated with the reduced presence of decarboxylated prothrombin in umbilical blood at birth. There is significant improvement in umbilical blood coagulation tests as gestational age advances from 24 to 34 weeks.     

Factors affecting women's knowledge of antenatal serum screening

Antenatal screening for fetal anomaly is offered routinely in Glasgow. This study assessed pregnant women's knowledge of the test and implications of results. Questionnaires were completed by 574 women. Knowledge of the nature and uses of the test was superior to earlier studies Two-thirds knew that screening was undertaken for Down's syndrome, and 81% for spina bifida. The majority were aware of the sample used, ages invited and gestation at which it was undertaken. Knowledge of the likely results and implications was poorer. Three-quarters were unaware that 10% of results would suggest an increased risk. Half did not realise that positive results could occur without fetal abnormality, or negative results could be falsely reassuring. Socioeconomic deprivation was associated with poorer knowledge but not lower uptake. Written information was associated with superior knowledge and higher uptake. Leaflets should be provided prior to booking, at which time resultant queries can be answered.     

Principles of management of maturity onset diabetes

By far the largest group of diabetics coming under treatment are those falling into the category maturity onset. While symptoms of thirst and polyuria, or symptoms or signs of complications may bring cases to attention, many are asymptomatic. The final proof, glycosuria being the presentation, should be sought by glucose tolerance test since it is essential to have confirmation of diagnosis prior to commitment by doctor and patient to life long treatment.