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Prenatal diagnosis of endocardial fibroelastosis

In a case of fetal heart failure caused by endocardial fibroelastosis, prenatal echocardiography clearly demonstrated; a thickened endocardium. We therefore suggest that an abnormal endocardium may be detected in utero by ultrasound, thus representing an important clue in the differential diagnosis of fetal nonimmune hydrops and in the evaluation of pregnancies at risk for endocardial fibroelastosis.     

Evaluation of inorganic pyrophosphate in amniotic fluid as a mode of prenatal diagnosis of osteogenesis imperfecta

Using a modified procedure by Solomons and Styner (1969), an evaluation of inorganic pyrophosphate (PPi) was performed on the amniotic fluid of two fetuses at risk for osteogenesis imperfecta (OI) at 14½ weeks gestation. The parents of both cases had a previous child with OI, Type II. The normal control group at 14–16 weeks gestation had PPi values ranging from 22.0–59.2 ug/100 ml, with a mean of 38.6±9.51 ug/100 ml. In each at-risk fetus, the amniotic fluid PPi value was within normal range. The first baby was born phenotypically normal at term. Intrauterine radiographic and fetal sonograms were done on the second fetus at approximately 19 weeks gestation. Both showed evidence of OI, Type II. The pregnancy was terminated at 21 weeks. Radiologic studies of the aborted fetus were consistent with OI, Type II. Our results indicate that the evaluation of PPi levels in amniotic fluid is not the method of choice for prenatal diagnosis of IO.     

Prenatal diagnosis of pericentric inversion of chromosome no. 17 in a twin pregnancy

Although prenatal genetic diagnosis can usually provide prospective parents with information as to whether their fetus is affected with certain genetic conditions, the presence of twins and the uncertainty about the phenotype of some chromosome variations pose a major dilemma and make genetic counselling very difficult. Here, a case report of an unusual chromosome aberration (pericentric inversion of chromosome no. 17) in a twin pregnancy which was originally suspected to be monoamniotic but later proved to have two sacs was presented.     

Activity of biotin-dependent and gaba metabolizing enzymes in chorionic villus samples: Potential for 1st trimester prenatal diagnosis

We have documented the presence of five mitochondrial enzymes in samples of chorionic villus tissue and measured the levels of activity. Three of the enzymes catalyse biotindependent reactions. These are propionyl-CoA carboxylase, 3-methylcrotonyl-CoA carboxylase and pyruvate carboxylase. the other enzymes. 4-aminobutyric acid aminotransferase and succinic semialdehyde dehydrogenase, are involved inthe degradation of the central inhibitory neurotransmitter GABA. Distinct diseases in whichthere is deficiency of each of these enzymes have been documented in man. Significant levels of activity were observed for all five enzymes in chorionic villus tissue. This methodology should permit early prenatal diagnosis of deficiencies of these enzymes by chorionic villus biopsy in the first trimester.     

Distribution of Iron, Manganese, Zinc and Atrazine in Groundwater in Parts of Palar and Cheyyar River Basins, South India

A study was carried out in a part of Palar and Cheyyar river basin to evaluate the current status of iron, manganese, zinc and atrazine concentrations, their origin and distribution in groundwater. Groundwater samples were collected during post-monsoon (March 1998 and February 1999) and pre-monsoon (June 1999) periods from 41 sampling wells distributed throughout the study area. The groundwater samples were analyzed for trace metals using AAS and atrazine using HPLC. The concentration of the trace elements in groundwater is predominant during pre-monsoon period. Distribution pattern indicates that the concentration of these elements increases from west to northeast and towards Palar river. Lower concentrations in the central part may be due to recharge of fresh water from the lakes located here. During most of the months, as there is no flow in Palar river, the concentrations of trace elements in groundwater are high. Drinking water standards indicate that Mn and Zn cross the permissible limit recommended by EPA during the pre-monsoon period. A comparison of groundwater data with trace element chemistry of rock samples shows the abundance of trace elements both in the rock and water in the order of Fe > Mn > Zn and Fe > Zn > Mn. This indicates that iron in groundwater is derived from lithogenic origin. Further, Fe, Mn and Zn have good correlation in rock samples, while it is reverse in the case of water samples, indicating the non-lithogenic origin of Mn and Zn. Atrazine (a herbicide) was not detected in any of the groundwater samples in the study area, perhaps due to low-application rate and adsorption in the soil materials.     

Application of a systemic approach to the study of pollution of the Tinto and Odiel rivers (Spain)

The province of Huelva in the SW of Spain presents high environmental contrasts: together with the great abundance of natural spaces, it shows the impacts of historical natural resources exploitation processes. In the Ria of Huelva, the effluents of the chemical industries must be added to the contaminating inputs of the Tinto and Odiel rivers, coming from the acid drainage of the mines located in the Iberian Pyrite Belt. This forced the Environmental Agency (AMA) to elaborate in 1987 an Effluent Remediation Plan in order to negate unacceptable environmental impacts. The application of a grey box systemic analysis to the AMD pollution, undergone by the Tinto and Odiel rivers has allowed to set a conclusive explanation of the sampling results observed for a period of 11 years, thus making available an overall view of the polluting process and, above all, an explanation of its partial aspects.