Biomedical subjects
Publications and source records attributed to S Rimmer.
A patient with bilateral Salzmann's nodular degeneration developed a myopic shift of 9 diopters in the right eye and 5 diopters in the left eye after removal of his nodules. This previously unreported complication of removal of peripheral corneal pathology is discussed in light of our current understanding of keratorefractive surgery.
Diagnosis of autosomal dominant adult polycystic kidney disease (APKD) is possible by ultrasonographic scanning (USS) or by using DNA markers linked to the PKD1 locus. Ultrasonography is complicated by the age dependent penetrance of the gene and linkage studies are subject to recombination errors owing to meiotic crossing over and locus heterogeneity. This study draws on data collected from a voluntary family register of APKD over 10 years. Records of 150 families were examined, ultrasound reports were obtained from 242 people at 50% prior risk, and 37 families were typed for DNA markers. The fraction of APKD resulting from loci unlinked to PKD1 (designated PKD2 here) was calculated at 2.94% (upper confidence limit 8.62%). Some subjects who were negative on initial scan later gave a positive scan, but there was no example of a definite gene carrier aged over 30 giving a negative scan. In families large enough for linkage analysis, most people who were at 50% prior risk could be given a final risk below 5% or above 95%, by using combined ultrasound and DNA studies.
We measured vertical and horizontal diameters of the optic disk and retrobulbar optic nerve in eyes from 95 patients on whom autopsies were performed at the UCLA Medical Center over a 20-year period. Ages at death ranged from 4.8 months' gestation to 21.9 years. Optic disk surface area and nerve cross-sectional area were calculated for each subject by using the formula for an ellipse. Approximately 50% of the growth of the optic disk and nerve occurs by 20 weeks' gestation, and 75% by birth; 95% of the growth occurs before the age of 1 year. All optic disk and nerve measurements correlate strongly (correlations > .67; P < .0001) with subject height and globe anteroposterior diameter. We applied our results to the current understanding of optic disk and nerve development, and compared them to previous clinical and pathologic studies of optic nerve dimensions in adults and older children.
Five patients with acquired immunodeficiency syndrome (AIDS) and presumed varicella-zoster virus retinopathy had recurrence of retinopathy after stabilization with initial intravenous antiviral therapy. Recurrences were recognized as increased retinal opacification at the borders of preexisting lesions or as new lesions. In four of the five patients, recurrences were temporally associated with a reduction in the amount of antiviral medication being received. Changes included switch from intravenous to oral acyclovir (two patients), taper of oral acyclovir (one patient), and discontinuation of medications (one patient). In four patients disease was initially unilateral; in three of these four, disease subsequently developed in the previously unaffected fellow eye at the time of recurrence. The median time from stabilization of disease to recurrence was 51 days (range, 14 to 90 days). In contrast to the management of varicella-zoster virus retinopathy in immunocompetent patients and varicella-zoster virus lesions of the skin, varicella-zoster virus retinopathy in patients with AIDS appears to require chronic suppressive antiviral therapy to prevent recurrences. In this respect it is similar to other opportunistic retinal infections in patients with AIDS. The best drugs and optimal treatment regimens for maintenance antiviral therapy remain unknown.
There are many potential complications which have been reported in association with the naevoid basal cell carcinoma syndrome. We have been able to show the relative frequencies of these problems in a population based study of 84 cases in the north west of England. The major complications of basal cell carcinomas and jaw cysts occur in over 90% of patients by 40 years of age, but may both occur before 10 years of age. Less well described complications are ovarian calcification or fibroma (24%), medulloblastoma (5%), cardiac fibroma (3%), cleft palate (5%), and ophthalmic abnormalities such as squint or cataract (26%). This study more clearly defines the possible complications of the syndrome and gives clearer guidelines for counselling and screening affected and at risk persons.
A total of 104 women with singleton pregnancies who were delivered between 37 and 42 weeks gestation had ultrasound scans during the fortnight before delivery. The biparietal diameter (BPD), abdominal circumference (AC) and femur length (FL) were measured in all cases. Estimation of fetal weight (EFW) was done by four different methods: using AC alone, AC/BPD, AC/FL and AC/BPD/FL. Results were compared with values of actual birthweights at delivery. There was no significant difference between the mean birthweights of the 47 boy and 57 girl fetuses studied. The EFW(Shepard) method showed the least bias overall: mean percentage error 1.7%, standard deviation (SD) 10.6%. The other three methods significantly underestimated birthweights on average: EFW(Deter), mean error 2.2%, SD 9.3%, p < 0.02; EFW(Campbell), mean error 5.4%, SD 9.5%, p < 0.001; EFW(Hadlock), mean error 5.6%, SD 9.3%, p < 0.001. The percentage error in each group was significantly negatively correlated (p < 0.001) with the scan-delivery interval. Two new equations were generated which gave more accurate predictions for the cases under study using AC, BPD and FL as a combination and also in addition to scan-delivery interval (SDI) in days.
We describe two cases of type 2 thanatophoric dysplasia. Cloverleaf skull and relatively straight, shortened long bones distinguish this condition from the more common type 1 thanatophoric dysplasia.
Cystinosis is an autosomal recessive metabolic disorder in which nonprotein cystine accumulates within most body tissues due to a defect in lysosomal cystine transport. Neurologic declarations are only recently being recognized. We studied 13 cystinotic subjects (aged 5 to 21 years old), determining median motor and sensory nerve conduction velocities, F waves, peroneal motor nerve conduction velocities, sural sensory nerve conduction velocities, median sympathetic skin response, electrocardiogram R-to-R variability, and blink reflex analysis. The results were normal. We conclude that neurophysiologic testing suggests relative sparing of the peripheral nervous system in nephropathic cystinosis.
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From a computerized database comprising 28 pertinent items in each of a consecutive series of 664 patients with cholelithiasis, differences were studied between men and women. In 52 patients there was a documented attack of acute pancreatitis (7.8%). Twenty-five of 174 men had pancreatitis, compared with 27 of 490 women (p less than 0.0001). Men developed gallstones later in life than women, but suffered gallstone pancreatitis earlier in life and in the course of their gallstone-related disease. A history of flatulent dyspepsia, chronic cholecystitis, and biliary colic was less common in men than in women with pancreatitis (p less than 0.0001). Men with pancreatitis had fewer stones in their gallbladders than did women (p = 0.0002). The cystic duct and the common bile duct in the pancreatitic patient were more likely to be dilated (p less than 0.0001). In the nonpancreatic group, these ducts were larger in men. Pancreatic duct reflux on operative cholangiography was more common both in patients with pancreatitis 62% cf 14% (p less than 0.0001), and in men (p less than 0.001). Predisposition to pancreatitis relates to duct size rather than stone size per se. Men are more susceptible to gallstone migration at an early stage of their disease. In addition they have a larger diameter duct system and possibly a different anatomic disposition of the sphincter of Oddi, which predisposes them to a higher incidence of pancreatitis than women. The data suggest that it is cystic duct size that is critical in the pathogenesis of gallstone pancreatitis.
The unique occupational dermatologic disorders of musicians are reviewed and compiled to provide the clinician with a reference list. Our results were obtained by a survey of 24 members of a professional symphony orchestra. The results of the survey revealed a significant incidence of occupationally related skin problems in musicians.
Cardiac tumours were identified on ultrasonography in fetal or early postnatal life in five infants. Tuberous sclerosis was subsequently diagnosed in all five. Only one infant required operation. Regression of the tumour occurred in three. No infant had hypomelanotic macules at birth, and they took up to two years to appear.
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Dissociated vertical deviation is a not uncommon strabismic syndrome characterized by upward deviation of an eye when occluded, with downward movement of the eye when occlusion is removed. Associated findings include latent nystagmus and horizontal strabismus. Duane's retraction syndrome is the clinical declaration of anomalous cranial nerve innervation characterized by a marked limitation or absence of abduction, variable limitation of adduction, narrowing of the palpebral fissure, and apparent globe retraction on attempted adduction. We report a patient with both dissociated vertical deviation and bilateral Duane's retraction syndrome, demonstrating that dissociated vertical deviation can occur with the anomalous neuroanatomic substrate present in Duane's retraction syndrome.
We recorded eye movements using infrared oculography in ten patients with the acquired immunodeficiency syndrome (AIDS) and ten control subjects of similar age. Peak saccadic velocity for the AIDS group was significantly lower than that of the control group for both adducting and abducting saccades (P less than .001). Saccadic duration for the AIDS group was significantly greater than that of the controls for both adducting and abducting saccades (P less than .02 for adduction and P less than .01 for abduction). There was no difference in saccadic latencies between the two groups. We add slowed saccades to the ocular motility manifestations of AIDS. Our study indicated that analysis of ocular motility may be of value in providing early detection of neurologic dysfunction, and may also be an important quantitative measure of the responsiveness of patients to different types of potential therapies.
We recorded pattern-reversal electroretinograms, flash electroretinograms, pattern-reversal visual evoked potentials, and flash visual evoked potentials in 6 patients with clinically diagnosed Alzheimer's disease and 6 age- and sex-matched control subjects. The mean amplitude of the pattern-reversal electroretinogram in the Alzheimer patients was significantly less than that of the control group (p = 0.004). This anomaly of the pattern-reversal electroretinogram may be a reflection of documented axonal depletion within the optic nerve and the degeneration of retinal ganglion cells seen in Alzheimer's disease. We found Alzheimer patients to have normal pattern-reversal visual evoked potentials and flash electroretinograms, but a delayed second positive component of the flash visual evoked potential. This combination of findings may be of diagnostic import in Alzheimer's disease.
Eighty newborn babies were studied by ultrasound brain scan before and after their first general anaesthetic. Periventricular haemorrhage or ischaemia occurred in 23 patients (29%) and affected both term and premature babies. Four new lesions developed but only three of 19 existing lesions deteriorated. The very premature (less than 33 weeks gestation) were most at risk (four of eight deteriorated). Deterioration or development of lesions occurred only in very ill babies with known risk factors. Anaesthesia did not appear to be implicated in any case.
A 10 mHz continuous-wave Doppler system has been used to detect blood flow within a sarcoma implanted in a rabbit's ear. The effects of vasoconstriction produced by intravenous angiotensin II were studied. Criteria are described that enabled differentiation of the Doppler signals from the tumour from those of the adjacent central artery. The effect of vasoconstriction upon these criteria is also described.