Mulibrey nanism: Three additional patients and a review of 39 patients

We report on 3 patients with Mulibrey nanism (MN), or Perheentupa syndrome: the first 2 sibs from Argentina and a new patient from Spain. All 3 patients had growth failure, short stature, abnormal pigmentary retinal changes, and a J-shaped sella turcica. These findings are considered major criteria of MN. Two had pericardial constriction, which is a frequent and lifethreatening abnormality in this syndrome. MN is a rare autosomal recessive condition. Reviewing the 39 patients described so far, we have classified the anomalies into the very frequent (present in more than 66%), frequent (in at least 25%), and not frequent. Identifying the anomalies specific to MN should help its early diagnosis and treatment. © 1995 Wiley-Liss, Inc.     

Nocardia ignorata, a new agent of human nocardiosis isolated from respiratory specimens in Europe and soil samples from Kuwait

Nocardia ignorata is a recently described species identified on the basis of a single isolate of unknown origin. Here we describe the epidemiological, phenotypic, and phylogenetic characteristics of this new species, based on five new clinical and soil isolates.     

Facial neglect

Following a stroke, a retired industrial chemist, K.L., complained that faces looked "different" and had become difficult to recognize. Investigation of this problem revealed that it particularly affected the left half of a face as seen by K.L. Defective recognition of this (left) half was found for normal faces, chimaeric faces, and for half-faces presented in isolation, whether upright or inverted. The problem was apparent for both internal and external facial features. Further studies with chimaeric faces demonstrated inattention to left-side features in K.L.'s judgements of facial expression and of resemblance between faces. Moreover, the left-half of a chimaeric face was affected even when it was itself forming part of the face positioned on the right in a display of two horizontally aligned chimaerics. K.L.'s spatial contrast sensitivity function was within normal limits for his age. He did not experience differential difficulty in recognizing the left side of everyday objects or of car-fronts (another stimulus class demanding within-category discrimination between visually similar items that display approximate left-right symmetry). He was also able to sort left or right half-stimuli correctly into the categories "human face", "dog face", or "tree". Although K.L. had a left visual field defect, the problem with faces occurred within otherwise intact parts of his field of vision. We suggest that his disorder can be considered a domain-specific form of unilateral neglect.     

The use of PTFE graft to correct anomalous drainage of persistent left superior vena cava

A new technique to correct persistent left superior vena cava (LSVC) drainage into the left atrium is described in a 14-year-old patient with situs inversus, left atrial isomerism common atrium, and mitral valve regurgitation. During surgery, occlusion of the LSVC markedly increased the venous pressure, precluding its ligation. Because of the malposition of the heart and the unusual atrial anatomy, correction with an intra-atrial baffle was not attempted. After correcting the intra-cardiac anomaly, the LSVC was divided and anastomosed to the "right" atrial appendage using a segment of PTFE graft. The postoperative course was uneventful and an angiogram demonstrated excellent performance of the graft.     

Testing a policy for skull radiography (and admission) following mild head injury

There has been, and continues to be, conflicting advice regarding skull radiography following an apparently uncomplicated head injury. Policies on admission are often ill defined. In 1983, representatives of the Royal College of Radiologists met neurosurgeons at a seminar in Harrogate organized by the DHSS and laid down clear, but little publicized, joint recommendations: "The Harrogate Criteria". The survey described here evaluated an existing liberal policy for skull radiography (and a loose policy for admissions) against these recommendations, and it was concluded that the number of patients having skull radiography (74% of head injury attenders) was excessive. Measured against the "Harrogate Criteria", requests for 36% of the adult and 47% of children's skull radiographs did not fulfil these criteria. As a corollary, it was also concluded that loose admissions policies could usefully be altered to comply more closely with the Harrogate recommendations. This would not necessarily reduce the numbers admitted, but would provide casualty officers with a framework on which to base this crucial aspect of clinical decision making, where presently there is often very little structure at all. The authors suggest that all the options have not been fully explored, and that a simple but important alteration to the Harrogate guidelines would provide an even closer link between policy on skull radiography and patient admission. Specifically, most patients who are to be admitted do not need skull radiographs.     

"Diaphragm-like" strictures of the small bowel in patients treated with non-steroidal anti-inflammatory drugs

The radiological findings are described in four patients who developed strictures of the small bowel, and who had received non-steroidal, anti-inflammatory drugs (NSAIDs) for 1.5-15 years. Clinical presentation was that of subacute small bowel obstruction. Small bowel barium studies showed multiple discrete strictures. Some strictures were indistinguishable from those of regional enteritis. Others however were narrow "diaphragm-like" septae encroaching on and markedly narrowing the ileal lumen, and shown histologically to be due to submucosal fibrosis. It is suggested that these strictures are likely to be consequent on NSAIDs administration and that radiologists and surgeons need to be aware of these "diaphragms" which can be very difficult to detect on barium examination, either small bowel follow-through or enteroclysis, and at laparotomy.     

Major histocompatibility complex class II-restricted antigen presentation across a species barrier: conservation of restriction determinants in evolution.

The existence of at least three alleles of the HLA-DRB3 gene within the human population is evident. These alleles express DRw52 determinants and react with monoclonal antibody (mAb) 7.3.19.1. The polymorphic epitope recognized by 7.3.19.1 is not only present on human cells but is also expressed on chimpanzee (Pan troglodytes) class II-positive cells. The 7.3.19.1 determinant already existed before speciation of man and chimpanzee, and is at least 5,000,000 yr old. Two-dimensional gel electrophoresis demonstrated that the various HLA- and Patr-DRw52 molecules that are reactive with 7.3.19.1 exhibit isoelectric point differences due to primary amino acid heterogeneity, as was confirmed by sequencing data. Sequence comparison allowed us to map the binding site of mAb 7.3.19.1 to the alpha helix of the major histocompatibility complex (MHC) class II DRB1 domain surrounding the antigen-binding cleft. Despite MHC sequence variation, chimpanzee antigen-presenting cells can present antigen (purified protein derivative) to human T cell lines and vice versa. Only the HLA- and Patr-DRw52 molecules were shown to function as restriction elements for antigen presentation across this species barrier. It is concluded that these particular restriction determinants probably have been conserved in evolution. The HLA- and Patr-DRw52 molecules represent alleles displaying polymorphism that has been selected for in evolution. Such "biomutants" may thus be more useful to study the biological significance of MHC molecules than MHC variants that have been generated by in vitro mutagenesis experiments.     

Patients'' complaints and satisfaction 5 years after complete denture treatment

This study is based on an evaluation of patients' opinions of their dentures by means of a questionnaire. The patients had been provided with complete dentures at a university clinic. Of the original sample (n = 139) a test group of 92 patients remained available for the actual study 5 yr after treatment. The replies in the questionnaire were subjected to statistical processing and interpretation. Six clusters could be defined and these were introduced as "scales" representing the patients' score on a specific type of complaint. Apart from the six scales a score was achieved for each patient's overall satisfaction. The correlations between the various scales were calculated with the aid of a computer program. Finally, cross-tabulation was used to see if any significant (inter)correlations could be proved between complaints, satisfaction, and some of the patients' social data. It could be concluded that a correlation exists between complaints of pain and of functional aspects on the one hand and vague complaints on the other hand. There is also a correlation between complaints of looseness of the maxillary denture and complaints about aesthetic factors. Well-fitting and well-functioning dentures, absence of pain, and a socially acceptable appearance contribute much to the patients' satisfaction with dentures. Social variables such as type of insurance (public or private) and marital status influence denture appreciation to a certain extent.     

Auditory extinction and dichotic listening CV task in cerebral infarction: preliminary report

Six stroke patients were studied using a dichotic listening CV task, 4 with left hemisphere infarction, 2 with right hemisphere infarction. It was observed a "lesion-effect", a shift of hemisphere prevalence to the side opposite a brain lesion. The authors suggest that the lesion-effect can be explained by the auditory extinction phenomenon at the linguistic level.