Expect the worse or hope for the best? Prenatal diagnosis of geleophysic dysplasia

Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with survival into adulthood. We present a case, a first-born child, where genetic counselling difficulties arose following ultrasound recognition of short-limbed dwarfism in association with polyhydramnios and an initial incorrect prenatal diagnosis of lethal chondrodysplasia. After birth of the surviving affected infant, the parents had great difficulty accepting that there had been a prenatal misdiagnosis and they were greatly disappointed by our inability to predict the postnatal survival of an infant to whom no hope of life had previously been given. The correct diagnosis was not made until the proband was nearly 1 year old, and the true prognosis then became clearer. This experience underlines the relative ease of prenatal recognition of skeletal growth abnormalities compared with the considerable difficulties experienced in reaching a precise diagnosis. Thus, following prenatal diagnosis of unspecified chondrodysplasia when parents seek definite information about the prognosis, the temptation to be either overpessimistic or overoptimistic should be avoided.     

Mean-shape vector quantizer for ECG signal compression

A direct waveform mean-shape vector quantization (MSVQ) is proposed here as an alternative for electrocardiographic (ECG) signal compression. In this method, the mean values for short ECG signal segments are quantized as scalars and compression of the single-lead ECG by average beat substraction and residual differencing their waveshapes coded through a vector quantizer. An entropy encoder is applied to both, mean and vector codes, to further increase compression without degrading the quality of the reconstructed signals. In this paper, the fundamentals of MSVQ are discussed, along with various parameters specifications such as duration of signal segments, the wordlength of the mean-value quantization and the size of the vector codebook. The method is assessed through percent-residual-difference measures on reconstructed signals, whereas its computational complexity is analyzed considering its real-time implementation. As a result, MSVQ has been found to be an efficient compression method, leading to high compression ratios (CR's) while maintaining a low level of waveform distortion and, consequently, preserving the main clinically interesting features of the ECG signals. CR's in excess of 39 have been achieved, yielding low data rates of about 140 bps. This compression factor makes this technique especially attractive in the area of ambulatory monitoring.     

Effect of Pd and In on mercury evaporation from amalgams

The aim of work was evaluation of voice pathology in patients with allergic rhinitis. Larynx organic pathology were found in 75% patients with coexisting allergic rhinitis in the form of Reinke's oedema, chronic hypertrophic laryngitis, larynx polyp and vocal nodules. It caused serious voice pathology (dysphonia) which was confirmed by an objective spectrographic method. Larynx organic pathology was not in 15% patients. In these cases rhinophonia was found in consequence of resonance nasal defect.     

The organization of human leucocyte antigen class I epitopes in HIV genome products: implications for HIV evolution and vaccine design

Knowledge of human leucocyte antigen (HLA) peptide binding motifs permits rapid selection of candidate viral protein fragments for induction of T cell-mediated immunity. A search for HLA class I peptide binding motifs in structural proteins of human immunodeficiency virus (HIV) of different genetic lineages provides a map of the genetic organization of potential T cell antigenic sites, and at the same time identifies all motifs in highly conserved regions of HIV-1 env, gag and pol. The density of motifs is anomalous at both the high and low end of the spectrum: local organization is characterized by clustering in relatively short regions, while large scale organization is characterized by anomalously long runs between motifs. The former is expected simply due to the fact that motifs often have overlapping anchor residue sets. A detailed statistical analysis of the latter, however, shows that the length of the runs cannot be accounted for by chance alone. Although motif clusters show no preference to be in either conserved or variable regions, low motif density stretches occur preferentially in variable portions of the protein sequence, which suggests that the virus may be mutating to evade the cellular arm of the immune system.