Foot Polydactyly and Polysyndactyly: Genetic Implications in Two Families

The purpose of this study was to determine the genetic characteristics of foot polydactyly and identify its inheritance pattern by analyzing familial pedigree. Five cases from 2 Korean families were studied: 1 is a family whose members have been affected for 4 generations and the other for 2 generations. Using peripheral blood samples, we performed chromosomal analysis using the banding technique with Giemsa stain and karyotyping. We investigated the shape and structure of 46 chromosomes, looking for translation, deletion, inversion, ring chromosome, and isochromosome abnormalities. All peripheral blood samples demonstrated no chromosomal abnormalities, though the genetic nature of foot polydactyly and a new genetic locus was identified recently by other studies. Familial pedigree analysis suggested that polydactyly was inherited as an autosomal dominant trait in the first family. The mode of inheritance for the second family could not be determined due to an insufficient number of family members. The result of this study brought us to the conclusion that, while genetic factors play a major role in polydactyly, other factors may contribute to its occurrence.     

Cytomorphometric analysis of vaginal cells during normal cycle, under oral contraceptive therapy or in-vitro fertilization stimulation protocol

A cytomorphometric analysis of superficial vaginal cells inwomen in three groups of different types of hormonal concentrationwas made. There were 15 women in each group. Group I was studiedduring a natural cycle, group II under oral contraceptive therapyand group III during an in-vitro fertilization (IVF) stimulationprotocol. Morphometric parameters were measured on an imageanalyser. The area, perimeter and several form factors weremeasured separately for nuclei and cytoplasm. The nucleus:cytoplasmicratio was also determined. The cytoplasmic area was significantlyreduced in group II and was associated with a statisticallysignificant reduction of the nuclear area. The nucleus:cytoplasmicratio appeared significantly increased in group II and reducedin group III. Low oestradiol impregnation obtained with an oralminidosed contraceptive interfered with vaginal cell maturation.High oestradiol concentrations obtained during IVF protocolsinduced marked nuclear pycnosis but did not induce supra-physiologicalcell enlargement. Maximal cell size is genetically regulatedaccording to Driesch's law of volume invariance and hormonalover-stimulation has no effect on cell size. The nucleus:cytoplasmicratio appears to be a powerful parameter reflecting the oppositeeffects of hormones on cell compartments.     

Analysis of the degree of precision of a computer-assisted dietary survey method

A computer-assisted method for the registration of food intakes in real time according to a concise and simple procedure was subjected to a series of controls in order to assess precision. The method employs the 'portion' of a composite dish as unit of measure. The constancy of the portion was tested. The results show that the recipes of the diet of a subject may be stored and utilized in deferred time without loss of precision: data to be recorded in real time are then very limited. The length of period of analysis was also studied. The time of investigation should not be shorter than two weeks to obtain precise information on the feeding habits of an individual subject, whereas for a group of subjects the diary of a single day provides information of sufficient precision.     

Le traitement du signal en électromyographie: mise au point

Automatic analysis of electromyography (EMG) signals, first operated in 1950 with analogic machines, steeply expanded from 1980 when fast computers and worthwhile programs became available. On-line measurement of response area and latency, averaging of low amplitude waves, fast sorting of motor unit potential shape parameters, computation of the “jitter” between two muscle fibers, turns/amplitude and spectral analysis of interferential pattern records, are some examples of programs currently offered in modern EMG machines. Other techniques are still reserved for research purposes: scanning EMG, decomposition of nerve and muscle compound potentials, measurement of the threshold and firing rate of motor units, trace analysis using tracking models. Finally, the credit for artificial intelligence systems (knowledge based systems, fuzzy logic, neuronal networks) is still not clearly stated.     

Sources of P300 attenuation after head injury: Single-trial amplitude, latency jitter, and EEG power

Single trial amplitude, latency jitter, and electroencephalographic (EEG) power were examined as sources of the group difference in averaged P300 amplitude among 15 traumatically brain injured and 20 control individuals in an auditory oddball paradigm. Mean amplitude of the individual trials was highly correlated with the amplitude of the averaged P300, with little additional unique variance attributable to latency jitter or EEG power. The group difference in P300 amplitude was also explained by the mean amplitude of the single trials. These results support the robustness of the event-related potential averaging technique within the paradigm used.     

An alternative method for significance testing of waveform difference potentials

Guthrie and Buchwald (1991) proposed an ad hoc procedure for assessing the statistical significance of waveform difference potentials that may arise in a variety of psychophysiology research contexts. In our paper, an alternative method is presented and demonstrated that has fewer underlying assumptions than does the Guthrie-Buchwald test and may, therefore, produce better results in some situations. In particular, the test proposed here (a) is distribution free, (b) requires no assumption of an underlying correlation structure (e.g., first-order autoregressive), (c) requires no estimate of the population autocorrelation coefficient, (d) is exact, (e) produces p values for any number of subjects and time points, and (f) is highly intuitive as well as theoretically justifiable. This procedure may be used to carry out multiple comparisons with exact specification or experimentwise error, however, this test is based on permutation principles and may require large amounts of computer time for its implementation.     

A guar-enriched wholemeal bread reduces postprandial glucose and insulin responses

We have developed a guar wholemeal bread and tested its physiological efficacy and sensory qualities. The objective of the study was to estimate the optimum concentration of guar in bread required to reduce postprandial glycaemia and insulinaemia without adversely affecting the quality of the bread. Following overnight fasts, 15 normal weight, non-diabetic subjects consumed meals of wholemeal bread alone (controls) and supplemented with guar at three different concentrations (5, 10 and 15% replacement of wheat flour). Blood samples for glucose and insulin analysis were taken preprandially, and at 30 and 60 min after the start of each meal. The acceptability of the wholemeal control and guar breads was assessed using a hedonic scaling method. A significantly lower blood glucose rise at 30 min was found after the 15% guar bread meal compared to the control. Plasma insulin responses at 30 and 60 min were significantly lower after the 10 and 15% guar bread meals compared to the controls. Hedonic scores indicated that the subjects found the 5 and 10% guar breads acceptable and in the case of the 5% variety the mean score was identical to the control. We suggest that a guar concentration of between 5 and 10% replacement of wheat flour (wholemeal or white) should be used for the baking of guar wholemeal bread but further work is needed to define the precise quantity of guar required.     

Genotype at a major locus with large effects on apolipoprotein B levels predicts familial combined hyperlipidemia

A sample enriched for familial combined hyperlipidemia (FCHL) was examined for evidence of an association between genotype at an apolipoprotein B (apoB) elevating locus defined by complex segregation analysis and FCHL. Complex segregation analysis detected a locus with a large effect on plasma apoB levels and was used to compute the most probable genotype of family members. None of the 35 normolipidemic adults carried a copy of the allele associated with elevated apoB levels, yet 58% of the 109 adults with FCHL carried 1 (29%) or 2 (28%) copies. Two of 28 (7%) normal children had 1 copy of this allele and none had 2 copies, while 88 of 182 (48%) children with FCHL had 1 (26%) or 2 (22%) copies. Further, 4l of 48 (85%) individuals classified as having hyperapobetalipoproteinemia did not carry a copy of this “elevated apoB” allele. Therefore, the presence of the allele associated with elevation of apoB level is highly predictive of FCHL and this association cannot be explained solely by the presence of elevated apoB levels in FCHL, suggesting that the locus controlling apoB levels may play an etiologic role in FCHL. © 1993 Wiley-Liss, Inc.