Sensitivity to ultraviolet radiation in a dominantly inherited form of xeroderma pigmentosum.

An Australian family is described in which a mild form of xeroderma pigmentosum (XP) is inherited as an autosomal dominant trait. Studies of lymphoblastoid cells and fibroblasts from affected persons demonstrated cellular sensitivity to ultraviolet (UV) light as judged by diminished clonogenicity and higher frequencies of UV induced chromosome aberrations compared to normal controls. After UV irradiation of dominant XP cells, replicative DNA synthesis was depressed to a greater extent than normal and the level of UV induced DNA repair synthesis was lower than that in normal cells.

Uptake of the neurotoxin 1-methyl-4-phenylpyridine (MPP+) by mitochondria and its relation to the inhibition of the mitochondrial oxidation of NAD+-linked substrates by MPP+.

1-methyl-4-phenylpyridine (MPP+), a major product of the oxidation of the neurotoxic amine 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) has been postulated to be the compound responsible for destruction of nigrostriatal neurons in man and primates and for inhibition of mitochondrial NADH oxidation which leads to cell death. We have confirmed that 0.5 mM MPP+ inhibits extensively the oxidation of NAD+-linked substrates in intact liver mitochondria in State 3 and after uncoupling, while succinate oxidation is unaffected.

Vitrectomy for double penetrating ocular injuries.

During the five-year period from 1977 to 1982, 15 consecutive patients with double penetrating ocular injuries were treated at the University of Minnesota. The 13 males and two females ranged in age from 5 to 38 years. Four patients had bilateral involvement.

Molecular forms of aconitase and their interconversions.

Aconitase, as isolated from mammalian mitochondria by traditional methods, is virtually inactive and contains an oxidized [3Fe-4S]+ cluster. The activation of the enzyme and attendant conformational change have been studied by monitoring the changes in activity, in tryptophan fluorescence, and in the electron paramagnetic resonance of the cluster on incubation with dithionite, with and without added Fe2+. Restoration of the full activity is achieved with one electron per 3Fe cluster and at least 0.

Retinal vascular changes in malignant melanoma of the choroid.

A review of fluorescein angiograms from 41 patients with malignant melanoma of the choroid showed that 11 patients (27%) had evidence of retinal vascular abnormalities. Abnormal retinal capillaries were found in eight cases, areas of capillary nonperfusion in seven cases, and microaneurysms in four cases. Lipid exudation, retinal neovascularization, and arteriovenous communication were noted in one case each.

Characterization of the Fe-S cluster in aconitase using low temperature magnetic circular dichroism spectroscopy.

Beef heart aconitase has been studied by low temperature magnetic circular dichroism (MCD) spectroscopy in the wavelength region 300 to 1900 nm. Together with parallel electron paramagnetic resonance and activity measurements, these data enable correlations between Fe-S cluster-type and enzymic activity in aconitase. In samples not exposed to extraneous Fe, the Fe-S cluster in aconitase exhibits the characteristic properties of a 3Fe center in both the as isolated and dithionite-reduced states.

Vitreous cytology in primary cerebroretinal malignant lymphoma.

We report the case of a 72-year-old woman who presented with vitreous opacities of unknown cause. A pars plana vitrectomy yielded material in which there were atypical lymphoid cells consistent with malignant lymphoma. Five months after the vitrectomy, the patient re-presented with cerebral lymphoma.

The relationship of pathogenetic mechanisms to treatment in patients with pain.

Pain is the somatic symptom par excellence, legitimizing more than any other the sick role and illness behavior. The functions and implications of pain are clearest in situations of acute illness or injury or in chronic, organically based conditions in which actual or threatened tissue damage is signaled by its report. Much greater complexity is found in a variety of clinical presentations (conversion hysteria, hypochondriasis, chronic pain syndromes, Briquet's syndrome, Munchausen's syndrome) in which pain may form part or all of the clinical picture.

Resonance Raman studies of beef heart aconitase and a bacterial hydrogenase.

The resonance Raman (RR) spectra of beef heart aconitase and of an air-stable hydrogenase from Desulfuvibrio desulfuricans, as isolated, are characteristic of 3Fe centers. Activation of aconitase by Fe(II) addition converts the RR spectrum to one characteristic of [4Fe-4S]2+ clusters. Analytical data on aconitase, as isolated, confirms the recent finding (Beinert, H.

Comparison of valproic acid and phenytoin in newly diagnosed tonic-clonic seizures.

Sixty-one newly diagnosed epileptic patients with generalized tonic-clonic, clonic, or tonic seizures were randomly allocated to treatment with valproate (VPA) and phenytoin (PHT). After 6 months, both drugs had been effective in preventing recurrence of seizures. Seventy-three percent of patients receiving VPA and 47% of patients receiving PHT had no recurrences.

Pseudophakic retinal detachment.

The clinical findings, surgical techniques, anatomic results and visual recovery in 71 pseudophakic and 71 aphakic eyes with retinal detachment repaired concurrently were compared. Preoperative visibility of the peripheral retina was significantly reduced in the pseudophakic group. Intraoperative identification of retinal breaks was useful for the pseudophakic eyes.

A protocol for the medico-psychosocial evaluation of patients with chronic pain.

A protocol is presented for the full medico-psychosocial evaluation of patients with chronic benign pain. Complete history taking is often difficult with these patients. However, this can be accomplished with a combined approach by an anaesthetist and a psychiatrist following a structured interview pattern which respects the patient's attitude towards psychological factors.

Paraldehyde therapy in childhood status epilepticus.

Intravenous (IV) diazepam or phenobarbital is generally accepted as the initial treatment of choice for status epilepticus in children. The risk of severe respiratory depression with either drug is a major problem, particularly in emergency centers that do not have appropriate equipment or personnel for rapid endotracheal intubation of infants. While some pediatric centers are not reluctant to recommend paraldehyde for secondary therapy in status epilepticus, most texts and publications recommend it only as a last resort because of reported complications.

Rips in the pigment epithelium.

Rips of the retinal pigment epithelium (RPE) are an uncommon complication of RPE detachment. We suspect that RPE rips are the result of tractional forces acting along the margin of the detached RPE, and that the risk of tearing is greatly enhanced by laser photocoagulation. Rips of the RPE have a characteristic clinical and angiographic appearance.

A double-blind study comparing carbamazepine with phenytoin as initial seizure therapy in adults.

Carbamazepine was compared with phenytoin in a double-blind study. Of 87 patients, data on 70 patients were complete and used for analysis. Thirty-five patients were treated with each drug.

Double-blind study of lorazepam and diazepam in status epilepticus.

Lorazepam was compared with diazepam for the treatment of status epilepticus in a double-blind, randomized trial. Seventy-eight patients with 81 episodes were enrolled. Patients received one or two doses of either 4 mg of lorazepam or 10 mg of diazepam intravenously.

Epidemiology of psychosomatic disorders in schizophrenic patients: methodological issues.

The value of an epidemiological study investigating the prevalence of certain somatoform diseases in schizophrenic patients can be strengthened by attention to the following methodological principles: (1) sufficient size of sample; (2) representativeness of sample, controlling if possible such variables as age range, inpatient or outpatient status, ward population or milieu and cultural aspects; (3) study of control groups in same milieu with other psychiatric diagnoses; (4) clear specification of diagnostic criteria employed; (5) establishment of interrater reliability concerning psychiatric diagnosis, patient historical data or medical record information.

The measure of symbolic function in alexithymic pain patients.

The archetypal test with 9 elements (AT9), a tracer of symbolic function, was completed by 30 pain patients in whom alexithymia had been measured by two means: the Beth Israel psychosomatic questionnaire (BIQ) and the Minnesota multiphasic personality inventory (MMPI) alexithymia scale. Results show a correlation of adequate statistical significance (p less than 0.05) between the AT9 and the BIQ but not with the MMPI alexithymia scale.