Beta-mercaptolactate cysteine disulphiduria in a mentally retarded Scottish male

Antenatal diagnosis of hereditary disease is highly dependent on sufficient theoretical knowledge and on a number of practical methods of studying the foetus such as obtaining, cultivating and assaying amniotic fluid cells. Knowledge of the primary defect in any monogenic disorder cannon be used in prenatal diagnosis unless the metabolic error is expressed in vitro. Modern cytogenetics can diagnose in utero a large majority of karyotyping abnormalities although the karyotype-phenotype correlation is not an absolute one. This task must be assigned to special laboratories where technical pitfalls are reliably avoided. In both metabolic and chromosomal hereditary disease, the pathologist can confirm and extend the phenotypic findings and improve knowledge on foetal features and physiopathology. Pathology is the more important, the less means of in utero diagnosis are available as in the non-chromosomal syndromes of localized or multiple malformations. Here it helps eliminating a present major drawback of prenatal diagnosis: the lack of a strict diagnosis in the previous patient in a family at risk.     

Reinterpretation of luminiscence properties of neurotoxins from the venom of Middle-Asian corba Naja oxiana eichw

A new interpretation of previous work (Bukolova-Orlova, T. G., Burstein, E.A. and Yukelson, L. Ya (1974) Biochim. Biophys. Acta 342, 272-280) and some new data on the luminescence of neurotoxins I and II from Naja oxiana venom is given, based on the newer data on their complete amino acid sequences. Very effective excitation energy exchange exists between Trp-27 and Trp-33 in neurotoxin I and between Trp-27 and Trp-28 in neurotoxin II, Which results in the tryptophanyl fluorescence spectra of each of the proteins seeming to be monocomponent ones. The lowered fluorescence quantium yield value, the shortened phosphorescence lifetime (80% of the emission has tau p less than 0.5 s, 20% has tau p = 4.8 s, comparing with usual tau p = 5.5-5.9 s) and decreased phosphorescence to fluorescence ratio (0.042, as compared to the usual 0.4-0.7) for neurotoxin I suggest that the indole chromophore of Trp-27 and/or Trp-33 are in contact with heavy sulfur atoms of disulfide, most probably of Cys(28)-Cys(32). Tryptophanyls in neurotoxin II are exposed to the solvent, however their accessibility in relation to that of the free tryptophan to the negatively charged quencher I- (0.455) is much higher than that for the positively charged Cs+ (0.08), which is probably due to the proximity of cationic Lys-25, Lys-26 and His-31. The difference of accessibility to the negative and positive quenchers is even more pronounced in the case of the neurotoxin I (1.04 and 0 +/- 0.02, respectively), though in its chromophore vicinity along the primary structure there is only one cationic group, Lys-25. This fact together with the analysis of the amino acid sequence, suggest that the space folding of this polypeptide results in the close proximity of Trp-27 and/or Trp-33 with the C-terminal peptide segment 67-73, which contains four cationic groups (His-67, Lys-69, Lys-71 and Arg-72).     

Voiding pressure as it relates to outlet and/or sphincteric resistance

Electrically quantitated and controlled detrusor contraction can produce either minimal or excessive rise in intravesical pressure depending upon openness or occlusion of the bladder outlet. Higher rise in intravesical pressure thus does not imply stronger detrusor contraction but should be viewed as a reflection of the outflow resistance mechanism. Possible damaging hydrodynamic effect of sudden partial or complete functional occlusion of the bladder outlet by intermittent or sustained voluntary sphincter activity is illustrated.     

Persistence of fetal cardiopulmonary circulation: one manifestation of transient tachypnea of the newborn

Five cyanotic newborn infants underwent cardiac catheterization between 8 and 36 hours of age with a tentative diagnosis of cyanotic congenital heart disease. All had normal cardiovascular anatomy. Cyanosis was the result of persistence of fetal cardiopulmonary circulation with right-to-left shunting across the ductus arteriosus. In all infants, cyanosis resolved spontaneously and the infants survived without sequelae. Admission chest roentgenograms of all infants showed marked hyperinflation of the lungs. Except for severe hypoxemia, the clinical presentation, chest films, and course of illness of these infants were consistent with transient tachypnea of the newborn. It is proposed that an increase in pulmonary vascular resistance, due to hyperinflation of the lungs, was the mechanism which reopened the fetal cardiopulmonary circulatory channels and produced hypoxemia, and that these infants suffered from a rare manifestation of a usually benign newborn respiratory condition. Further, given these pathophysiologic mechanisms, the use of continuous transpulmonary pressure gradients in the management of such infants would be contraindicated.     

Erythrocyte basophilic stippling in the Mongolian gerbil

Basophilic stippling of the circulating erythrocytes is characteristic of the Mongolian gerbil. Its enzymatic digestion along with the concomitant removal of diffuse erythrocytic polychromasia by the action of ribonuclease demonstrates that it represents microscopically visible aggregates of cytoplasmic ribonucleoprotein, presumably of ribosomal origin. Up to 40% of the total circulating erythrocytes may be stippled in foetal and newborn animals. There is then a progressive decline in incidence until adult levels are attained at least by 20 weeks of age. The bone marrow of the adult gerbil contains a higher proportion of stippled red cells than the circulating blood. The stippling can be either coarse or fine and observable in both polychromatophilic and orthochromic cells. It is suggested that erythrocytes with basophilic stippling are relatively immature red cells still demonstrating remnants of cytoplasmic ribonucleoprotein.     

The clinical significance of granulocyte colonies in bone marrow cultures

The culture system for in vitro evaluation of "colony forming units - culture (CFU-c)" is briefly outlined. This method offers a new approach to studies of proliferation and differentiation of hemopoietic progenitor cells, especially in disorders of granulopoiesis. From available published data it is evident that quantitation of CFU-c is also an indicator of diagnostic and prognostic value for assessment of various types of leukemia. The CFU-c assay has furthermore been introduced to test the viability and proliferating capacity of cryopreserved bone marrow, especially with a view to possible transfusion of stored autologous bone marrow as an adjuvant to cytostatic therapy.     

Gas exchange during exercise in healthy people II. Venous admixture

1. Venous admixture/cardiac output ratio (Qva/Qt) has been measured in twenty-four healthy volunteer subjects of both sexes aged 20-71 years, at rest and during the steady state of treadmill exercise at two rates of work, and breathing air and breathing oxygen. 2. With oxygen breathing, Qva/Qt was considerably less during exercise than during the time subjects were taking either normal or deep breaths of oxygen at rest, and did not significantly increase with the intensity of exercise. It is postulated that the increase in ventilation during exercise opens most or all of those alveoli which, during oxygen breathing at rest, close because of critically low ventilation/perfusion (V/Q) ratios. 3. With air breathing, Qva/Qt fell from rest to exercise (especially in older subjects), presumably due to improved ventilation of alveoli at the lung bases. With an increase in work rate Qva/Qt increased in all age groups. This increase was not due to increase in the shunt fraction (Qs/Qt), nor to limitation of diffusing capacity; it arose from an increase in V/Q variance. 4. Equations have been derived for the prediction of normal Qva/Qt during exercise, with or without correction for the effects of increasing pulmonary capillary temperature. These effects do not materially influence the accuracy of prediction, but may be relevant to some of the interpretations. In particular, they provide a further indication that Qs/Qt probably cannot be measured by breathing oxygen at rest, even in deep breathing.