Exfoliation syndrome in a 17-year-old girl

A 17-year-old girl with unilateral congenital glaucoma who had undergone trabeculectomy and peripheral iridectomy in infancy developed apparent exfoliation syndrome (XFS) in the eye that underwent the surgical procedures. A conjunctival biopsy was performed and the specimen was fixed in 2.5% glutaraldehyde, embedded in epoxy resin (Epon-Araldite, Electron Microscopy Sciences, Fort Washington, Pa), and processed for routine electron microscopy and immunostaining for elastin. Results of ultrastructural study showed scattered fibrillar aggregates compatible with those of XFS in an older adult, differing chiefly in sparsity of granular interfibrillar matrix. The XFS fibers were closely associated with elastic fibers and microfibrils. Elastosis of the actinic-aging type was somewhat greater than expected for age. To our knowledge, this is the youngest patient described with characteristic ocular findings of XFS to date, supporting others who have suggested an association between iris surgery in youth and early onset XFS. Electron microscopy was essential in ruling out the possibility of a clinically similar entity caused by ultrastructurally different material.     

Severe selective IgM deficiency

Based on our results we are able to attribute to the PGE2 a special importance during the beginning of cervical dilatation. A cervical dilatation up to 3 cm is faster achieved by cervical relaxation effect and a direct effect on myometrial tissue independant from exterior parameters. The earlier the cervix has reached such a dilatation, the earlier regular contractions are registered at inductions with PGE2. These contractions are furthermore more effective and led to a shorter induction delivery interval under a minimal physiologic stress. This procedure is combined to a lower intrauterine pressure and shows no negative sideeffects on child and mother.     

A case of paradoxical brain embolism in a 17-year-old boy

OBJECTIVE: To estimate the proportion of 1-4-year-old New South Wales children immune to measles and compare the documented immunization history with serologically defined immune status. DESIGN: Population based seroprevalence survey piggybacked onto the National Survey of Lead in Children. Immune status was determined by two different enzyme immunoassays on plasma samples from subjects. SETTING: New South Wales, February-March 1995. OUTCOME MEASURES: Documented measles immunization collected by interview survey and serologically defined immunity. RESULTS: Of 689 survey subjects, 430 (62.4%) provided a blood sample. Adequate plasma remained for both assays for 347 children, of whom 279 (80.4%) were immune by both assays. Parents of 330 stated that their children were immunised, of whom 211 (63.9%) were able to produce corroborating records. Of these 211 subjects, 178 (84.4%) were immune compared to 87 (76.3%) of 114 without records (P = 0.07). CONCLUSIONS: We estimate the prevalence of true measles immunity in 1-4-year-old NSW children to be only 80%, a level inadequate to prevent outbreaks of measles in urban populations. Both long term and immediate strategies are required to increase the prevalence of immunity among NSW children; these may include lowering the age of the routine second measles dose and mounting a mass measles immunisation campaign to include preschool aged children.     

Severe digoxin intoxication in a 15-year-old girl treated with Fab antidigoxin

The precise aetiology of sudden death in patients receiving neuroleptic medication is uncertain, but cardiac arrhythmias are a possible cause. We investigated the link between neuroleptic medication and electrocardiographic changes predictive of malignant cardiac arrhythmias. Electrocardiographs were performed on 111 patients receiving neuroleptic medication and on 42 unmedicated controls. Prolonged QTc intervals were more common in the patient sample, but QTc dispersion was not significantly increased. QTc interval prolongation was more likely in patients on doses above 2000 mg chlorpromazine equivalents daily (odds ratio 4.28, P < 0.02). Neuroleptic medication, especially at high doses, is associated with ECG changes that may herald more serious cardiac problems.     

Work capacity after iron treatment as a function of hemoglobin and iron deficiency

The relative importance of hemoglobin (Hb) and non-Hb iron for physical work capacity was studied in 45 adult male and female subjects, with a range of Hb and serum iron levels. Maximal work capacity, heart rate, venous blood lactate and serum protein were measured before and after 1 week of treatment with Imferon, i.v. Even though some non-Hb related effects on parameters indicative of maximal work capacity were found, the main factor was Hb related. Subjects with low Hb-high serum iron worked longer than ones with low Hb-low iron. When work performed was similar, the marginal Hb-low iron group had a higher blood lactate concentration than the high Hb-high iron and marginal Hb-high iron groups. The coefficient of correlation between serum iron and post-exercise lactate levels was -0.41 (p less than 0.05). Even though neither of these groups showed a Hb response within 1 week of iron treatment, the initial low serum iron groups had significantly lower heart rates at a given work load relative to subjects with high iron but with a similar Hb level. This occurred both at rest and during light to heavy exercise. These results suggest that a rather rapid benefit of iron treatment is gained in iron-deficient subjects with severe and moderate anemia which cannot be accounted for by Hb changes. Although the primary factor which affects the physical work capacity of iron-deficient anemic subjects seems to be the Hb level, there also seems to be a significant non-Hb related effect of iron treatment as well.     

Glucose-6-phosphate dehydrogenase deficiency in an 81-year-old

In a 81-year-old woman, who for many years had been treated with iron and vitamin B12 injections because of a 'tendency to anaemia', congenital haemolytic anaemia on the basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency was diagnosed. The iron and vitamin medication was discontinued and after a blood transfusion because of signs of heart failure, the patient could leave the hospital in good condition. After instruction with regard to provocative factors, like eating of broad beans, no more haemolytic events occurred. Of her children and grandchildren, 2 sons and 1 granddaughter were G6PD deficient.     

Severe dental aberrations in familial steroid dehydrogenase deficiency: a new association

Severe numerical dental aberrations are rare, and are most often seen as a part of certain syndromes. We here report on a Saudi Arabian family where first-cousin marriages have caused numerical and structural dental abnormalities linked to autosomal recessively inherited liver diseases. The two latest affected children in this family have had their liver defect successfully treated with fat-soluble vitamins and chenodeoxycholic acid, enabling us to study their dental development. One boy exhibits 11 supernumerary teeth, a general hypomineralisation and enamel hypoplasia, while an affected cousin successfully diagnosed at an early age, so far, only suffers from structural enamel defects. The children are otherwise healthy. There is no resemblance to any known syndromes. We suggest that the supernumerary teeth and the liver disease are caused by the same genetic defect, and represent a new association. The hypomineralisation, however, is most likely to result from vitamin deficiency secondary to malabsorption during the first years of life, before successful treatment was instituted.     

The frequency and development of tissue iron deficiency in 6 iron deficiency anemia patients with plummer-vinson syndrome

The physical signs of tissue iron deficiency include smooth and red tongue, angular stomatitis, koilonychia, and pica. The incidence of these conditions is unknown in Japan. We evaluated the frequency and development of tissue iron deficiency in 353 patients with iron deficiency anemia. The frequency of tissue iron deficiency was 6.8%; papillary atrophy of the tongue, 5.4%; abnormal nails, 5.4%; angular stomatitis, 1.1%; Plummer-Vinson syndrome, 1.7%; and pica, 0.06%. These findings were compared with the date collected by Wintrobe and Beveridge. The development and incidence of tissue iron deficiency correlated significantly with the severity of iron deficiency anemia.     

Parietal cell antibodies in iron deficiency anaemia

The present studies were designed to estimate fetal weight on the basis of the thesis that the factors which determine body weight include the fetal bone and the amount of fetal soft tissue, i.e., fetal corpulence. Scalp thickness on the fetogram in the vertex presentation was measured, and the ratio of the minimal femur diameter to the thickness of soft tissue on the extensor side in the same region was calculated as an index of fetal corpulence. The scalp thickness and the ratio obtained proved to be highly correlated with fetal weight.     

Red cell ferritin, a marker of iron deficiency in hemodialysis patients

Methods for evaluating the hazards associated with noncancer responses with epidemiologic data are considered. The methods for noncancer risk assessment have largely been developed for experimental data, and are not always suitable for the more complex structure of epidemiologic data. In epidemiology, the measurement of the response and the exposure is often either continuous or dichotomous. For a continuous noncancer response modeled with multiple regression, a variety of endpoints may be examined: (1) the concentration associated with absolute or relative decrements in response; (2) a threshold concentration associated with no change in response; and (3) the concentration associated with a particular added risk of impairment. For a dichotomous noncancer response modeled with logistic regression, concentrations associated with specified added/extra risk or with a threshold responses may be estimated. No-observed-effect concentrations may also be estimated for categorizations of exposures for both continuous and dichotomous responses but these may depend on the arbitrary categories chosen. Respiratory function in miners exposed to coal dust is used to illustrate these methods.     

Severe neurotoxicity following 5-fluorouracil-based chemotherapy in a patient with dihydropyrimidine dehydrogenase deficiency

Patients with decreased dihydropyrimidine dehydrogenase (DPD) activity are at increased risk for experiencing serious adverse reactions following 5-fluorouracil (5-FU)-based chemotherapy. Symptoms include severe and potentially life-threatening gastrointestinal toxicity, myelosuppression, and neurological toxicity. In the present study, we describe a 50-year-old Caucasian man who developed severe encephalopathy during his second cycle of 5-FU chemotherapy. The patient remained in a comatose state for 4 days but then showed dramatic improvement in his neurological status following continuous i.v. infusion of thymidine at 8 g/m2/day. Laboratory studies revealed the patient to be severely DPD deficient, as demonstrated by DPD enzyme activity from peripheral blood mononuclear cells being below the lower limit of the 95th percentile of a control population and by Western immunoblot analysis showing undetectable levels of DPD protein. Additional studies revealed a significant defect in pyrimidine catabolism with a 3.3- and 365-fold increase in the levels of uracil in plasma and urine, respectively, compared to normal subjects. Family studies suggest that the inheritance pattern of this syndrome is complex and most consistent with an autosomal recessive trait. This study demonstrates that cancer patients with DPD deficiency are at increased risk for developing severe neurological toxicity secondary to 5-FU chemotherapy, and that infusional thymidine should be considered as a potential rescue agent against this particular host toxicity.