A cystic fibrosis patient homozygous for the new frameshift mutation 936delTA: description and clinical data.

We report the identification of a new frameshift mutation (936delTA) in exon 6b of the CFTR gene. In the screening of 486 unrelated Spanish CF patients we found a patient homozygous for 936delTA (with consanguineous parents) and a patient heterozygous for delta F508 and 936delTA. Genotype-phenotype correlation studies showed that 936delTA is associated with pancreatic insufficiency and chronic pulmonary colonisation.     

Aplasia cutis congenita of the scalp with large underlying skull defect: a case report

Localised agenesis of the scalp is the most frequent patern in aplasia cutis congenita (ACC), a congenital absence of the skin and occasionally of deeper layers. Several clinical groups are characterised by the location and pattern of skin defects, associated malformations and the mode of inheritance. Death occurs in 20% of cases, secondary to the associated anomalies, to infections or to haemorrhage from ulceration of the sagittal sinus when there is also a defect of the underlying skull. In this latter case, we close the defect by two rotational scalp flaps (Orticochea technique) at birth. A three-dimensional CT study is useful for showing the extent of the skull defect and the deformity of the craniofacial complex and the changes in the bone after treatment.     

A contribution to the model of biliary infection in rats.

The model of biliary tract infection induced in rats given suspension of E. coli into the bile duct is described. To prevent leakage of microorganisms after the administration, a temporary ligation of the bile duct followed. Contemporary groups of sham-operated and control rats (given saline by intrabiliary injection) were compared to assess the significance of the changes. The effect of biliary infection was concentration dependent. If 0.1 ml of the concentration containing 10(2), 10(3) and 10(6) colony-forming units/ml was injected, the mortality of rats reached 8%, 57% and 65%, respectively within 24 h. Blood and bile cultures from all dead animals grew E. coli. To evaluate the effect of chronic biliary infection, the concentration of 10(2) colony-forming units/ml was used. Serum concentrations of total and conjugated bilirubin, cholesterol and creatinine, activities of S-alanine-aminotransferase, S-aspartate-aminotransferase, alkaline phosphatase, the count of leucocytes in blood, total body weight with weight of the liver were investigated on days 1, 4 and 12 after the treatment. The results showed: an increase in leucocytes (21 +/- 4.2 10(9)/l, p less than 0.02 vs control animals) on day 4, an augmentation of serum cholesterol on day 1, (2.1 +/- 0.9 mmol/l, p less than 0.02 vs control animals), the presence of E. coli in blood on day 1 and its persistence in the bile on days 1, 4 and 12. Except the bile, all of the other symptoms were reversible by day 12.     

Catheter ablation by low energy DC shocks for successful management of atrial flutter.

OBJECTIVE--To assess the effects of low energy ablation of the substrate for atrial flutter. DESIGN--Initial retrospective analysis of patients undergoing low energy ablation of the atrioventricular node for refractory atrial flutter (group 1) was followed by a prospective assessment of low energy ablation in the posterio-inferior right atrium for the same condition (group 2). SETTING--Tertiary referral centre for management of cardiac arrhythmias. PATIENTS--Seven men (aged 50-67 years) with refractory atrial flutter. INTERVENTIONS--Multiple (3-10) low energy DC shocks with a cumulative energy of 100-245 J in the region of the atrioventricular node in group 1 and 12-15 low energy DC shocks (cumulative energy 110-235 J) guided by the anatomical landmarks of the triangle of Koch and applied directly to the atrial wall. MAIN OUTCOME MEASURE--Freedom from recurrence of atrial flutter. RESULTS--In group 1 despite initial complete atrioventricular block in three patients, atrioventricular conduction had resumed in all by one month. All four, however, were in sinus rhythm at follow up six to 13 months later. Two of the three patients in group 2 were free of atrial flutter at follow up three to four months after ablation. CONCLUSION--Ablation of the atrial flutter substrate with low energy DC shocks is feasible. Precise electrophysiological mapping is not necessary.     

Pattern-reversal electroretinograms and visual evoked potentials in branch retinal vein occlusion

We recorded pattern electroretinograms and visual evoked potentials in a group of selected patients with unilateral uncomplicated branch retinal vein occlusion. To document the effects of preexisting risk factors, patients were divided into three groups: diabetes mellitus, hypertension with hyperlipidemia and no systemic disease. The transient and steady-state pattern electroretinogram and visual evoked potential amplitudes were significantly reduced and visual evoked potential peak times were delayed relative to the fellow eyes and agematched normal subjects. There was a second amplitude reduction relative to the other patient groups in both the affected and fellow eyes of the diabetes mellitus group, which was indicative of an additive effect of diabetes mellitus.Abbreviations BRVO branch retinal vein occlusion     

The effect of socio-economic conditions on the time of diagnosis and compliance during treatment in growth hormone deficiency.

In 78 patients with idiopathic growth hormone (GH) deficiency the effect of the fathers' educational level on the age and the extent of growth retardation at diagnosis was studied. There was a tendency for an increase of the age and the degree of growth retardation with the decrease of the fathers' completed grades. The occurrence of height SD scores less than -4.5 was conversely related to the number of grades completed by the father (chi 2 = 19.2 p less than 0.001). Eighteen of the 70 patients treated with growth hormone discontinued treatment after 0.3 to 6 years. Compliance was closely related to the grades completed by the father (chi 2 = 24.7 p less than 0.001). Six out of 7 patients with a height SDS less than -4.5 at diagnosis and with a father of low level of education (less than 8 grades) became non compliant. It is concluded that the degree of growth retardation at diagnosis and compliance at treatment in GH deficiency is related to the educational level of the father.     

Lupus vulgaris in a patient with systemic lupus erythematosus and persistent IgG deficiency

We present the case of a patient with juvenile onset systemic lupus erythematosus (SLE) who developed a persistent, acquired hypogammaglobulinaemia with IgG deficiency. The hypogammaglobulinaemia was probably a complication of high dose corticosteroid treatment. The serum IgG level remained subnormal despite intravenous immunoglobulin therapy. Lupus vulgaris, which developed on the nasal cartilage in this patient with SLE, is not an expected finding. This patient is probably the first reported case of SLE associated with lupus vulgaris.     

Case Report: Corroboration of the lower extremity counterpart of the Poland sequence

Gluteal and lower extremity hypoplasia with ipsilateral toe brachysyndactyly were noted in a 23-year-old woman similarly affected to the only previously reported case of the lower extremity counterpart of Poland sequence. Since no neurological deficit was found, and electromyographic and nerve conduction studies in the affected limb were normal, we propose a vascular origin which would involve the external iliac artery supply analogous to the subclavian artery supply disruption in the upper extremity Poland sequence.     

Phenoxyacetic acid induces glutathione-dependent detoxification and depletes the glutathione pool in Penicillium chrysogenum

Enzymes of the glutathione-dependent detoxification pathway (glutathione S-transferase and γ-glutamyl-transpeptidase)¹) were induced, and the glutathione pool was completely depleted by phenoxyacetic acid in Penicillium chrysogenum mycelia incubated for 15 h in a culture medium containing lactose as a carbon source and sodium glutamate as a nitrogen source. A significant increase in both the oxidised glutathione concentrations and the glutathione reductase activities were also observed. 1-Chloro-2,4-dinitrobenzene - a potent substrate and inducer of glutathione S-transferase - initiated very similar physiological changes but no β-lactam production could be detected in this case. When (NH₄)₂HPO₄ was used as a nitrogen source the penicillin biosynthesis was repressed and the induction of γ-glutamyltranspeptidase by phenoxyacetic acid was hindered considerably.