Counseling dilemmas in EEC syndrome

In this report we describe a prenatally diagnosed case with four-limb ectrodactyly and cleft lip/palate. The family history reveals three-generation oligodontia. The difficulties in counseling of the families with EEC syndrome are discussed.     

Anodontia as the sole clinical sign of the ectrodactyly-ectodermal dysplasia-cleft lip (EEC) syndrome

In this report we present another family with oligosymptomatic expression of the EEC syndrome. A mother with complete absence of the permanent teeth had two children with split hand/split foot deformity, as typically seen in the EEC syndrome. Cleft lip/cleft palate was also present in one of them. The great variability in expression of this autosomal dominant syndrome is discussed and the difficulties in genetic counseling are emphasized.     

A critical analysis of the causes of boron toxicity in plants

This study investigated the main factors contributing to boron toxicity in plants. Growth was rapidly inhibited by internal B concentrations in the range 1–5 m m across a range of plant types that included monocot, dicot and algal species. In contrast, mature cells were able to withstand up to 60 m m B for several days. In wheat, rapid inhibition of root growth occurred if high B was applied to the root tip, but not if high B was applied to mature sections of the root. In leaves, there were gradations in B concentrations that correlated with visible symptoms of toxicity. However, there was no evidence to support the hypothesis that toxicity in leaves is due to osmotic stress induced by the accumulation of B. Analysis of the sensitivity to B of a range of metabolic processes including photosynthesis, respiration and protein synthesis leads to the conclusion that growth is not restricted by effects of B on energy supply and not directly by inhibition of protein synthesis. At higher B concentrations, many cellular activities were found to be partially inhibited and the toxicity to mature tissues was therefore considered not to arise from the disruption of a single process, but from the accumulated retardation of many cellular processes, exacerbated in light by photo‐oxidative stress.     

Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome.

EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid substitutions that are predicted to abolish the DNA binding capacity of p63. The ninth is a frameshift mutation that affects the p63alpha, but not p63beta and p63gamma isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome.     

A critical analysis of the HIV-T4-cell-AIDS hypothesis

The data generally accepted as proving the HIV theory of AIDS, HIV cytopathy, destruction of T4 lymphocytes, and the relationship between T4 cells, HIV and the acquired immune deficiency clinical syndrome are critically evaluated. It is concluded these data do not prove that HIV preferentially destroys T4 cells or has any cytopathic effects, nor do they demonstrate that T4 cells are preferentially destroyed in AIDS patients, or that T4 cell destruction and HIV are either necessary or sufficient prerequisites for the development of the clinical syndrome.Knowledge is one. Its division into subjects is a concession to human weakness.     

A critical analysis of the odour unit number and its use

The "odour unit number" used in applied flavour research andknown by several different names, is neither a unit of absolutephysical concentration of an odorant, nor is it a psychophysicalmeasure for perceived odour intensity. The use of this concepthas been shown to rest upon implicit assumptions which are contradictoryin some respects to present psychophysical knowledge. A specialconsequence for the mixture threshold value of the defined relationshipbetween odour unit numbers of components and that number ofthe mixture from which they are parts was shortly discussed.Finally, a few words were devoted to a psychophysical approachin the study of interaction phenomena in odorant mixtures.     

Transgenic farm animals - A critical analysis

The notion of directly introducing new genes or otherwise manipulating the genotype of an animal is conceptually straightforward and appealing from the standpoints of both speed and precision with which phenotypic changes can be made. Thus, it is little wonder that the imagination of many animal scientists has been captivated by the success others have achieved in introducing foreign genes into mice. Transgenic mice not only exhibit unique phenotypes, but they also pass those traits on to their progeny. However, before transgenic farm animals become a common component of the livestock industry, a number of formidable obstacles must be overcome. In this review we attempt to identify the critical issues that should be considered by both those currently working in the field and those scientists considering the feasibility of initiating a transgenic livestock project. The inefficiency of producing transgenic animals has been well documented. This does not constrain investigators using laboratory animal models, but it has a major impact on applying transgenic technology to farm animals. The molecular mechanisms of transgene integration have not been elucidated, and as a consequence it is difficult to design strategies to improve the efficiency of the process. In addition to the problems associated with integration of new genes, there are inefficiencies associated with collecting and culturing fertilized eggs as well as embryo transfer in farm animals. Transgenic farm animal studies are major logistical undertakings. Even in the face of these practical hindrances, some may be pressured by administrators to embrace this new technology. As powerful as the transgenic animal model system is, currently there are limits to the kinds of agricultural questions that can be addressed. Some uses are so appealing, however, that several commercial organizations have explored this technology. Within the next decade or two, it is likely that many of the technical hurdles will be overcome. Combining new techniques with a better understanding of the genetic control of physiological systems will make it possible to improve the characteristics of farm animals in highly imaginative ways.