An extended HLA-DQ-DR haplotype rather than DRB1 alone contributes to RA predisposition

A family with 1 case of retinitis pigmentosa (III-1) and 2 cases of Oguchi's disease (III-2, 3) was examined in terms of electrophysiology as well as molecular biology. The proband (III-3), a 42-year-old female, and 2 older brothers (III-1, 2, aged 52 and 45 years) and 2 unaffected members in the same family participated in this study. Corrected visual acuities of the individuals with Oguchi's disease (III-2, 3) were 1.2. On funduscopy, blood vessels stood out in relief against a metallic-appearing background and a Mizuo-Nakamura phenomenon was evident. Full-field electroretinograms (ERGs) recorded from the proband were indicative of rod dystrophy, but results of other electrophysiological examinations (multifocal ERG, pattern ERG and visual-evoked cortical potential recordings) were within normal limits. Patient III-1 had corrected visual acuities of RE 20 cm/m.m. and LE 30 cm/n.d., severe chorioretinal atrophy in both fundi, and full-field ERG revealed rod-cone dystrophy. Mutation of the arrestin gene (1147de1A) was detected in all 3 patients. Visual function in each patient coincides with that of retinitis pigmentosa or Oguchi's disease, respectively.     

Geotrichum septicemia

Although disseminated geotrichosis is an unusual disease (to our knowledge, only six cases have been reported), Geotrichum candidum is not a very virulent fungus. In our case, there was neutrophillic phagocytosis of the arthrosphores of G candidum, with rapid clearance of the fungus from the plasma of a chronically ill patient whose immune defenses were still intact.     

Effects of Al3+ and Be2+ ions combined with NaF on ciliary process adenylyl cyclase activity and aqueous humor dynamics in the rabbit eye

PURPOSE: The activity of Al3+, Ga3+, and Be2+ ions in the presence of NaF to directly activate G-proteins was investigated by their potentiative effect on forskolin (FSK)-activated adenylyl cyclase in rabbit ciliary process membranes and their effects on aqueous humor dynamics in vivo. METHODS: Adenylyl cyclase (AC) was determined by radiometric conversion of ATP to cAMP by the particulate fraction of rabbit ciliary processes. Intravitreal injections of sterile solutions of analytical grade salts were made into the center of the vitreous in a volume of 20 microliters. Intraocular pressure, aqueous humor flow, and uveoscleral outflow measurements were made by pneumatonometry, fluorophotometry, and fluorescein-dextran method, respectively. Outflow facility was determined by tonography in the intact eyes and by two-level constant pressure perfusion in cannulated eyes. RESULTS: Both Al3+ (EC50, 40 mumol/l) and Be2+ (EC50, 11 mumol/l) in the presence of 0.5-2 mM NaF activated the stimulatory G-protein Gs. Ga3+ was ineffective and did not antagonize the activation by Al3+. Intravitreal injections of Al3+ (1 mumol/eye) or Be2+ (0.5 or 1 mumol/eye) had no significant intraocular pressure (IOP) effect, nor did 1.5 or 3 mumol/eye of NaF, but when either cation was injected together with NaF, IOP decreased by up to 40% for up to 140 hr. At the time of maximum IOP effect (72 hr) aqueous humor flow determined by fluorophotometry was decreased in BeCl2+ NaF-treated eyes by 40% relative to BeCl2-treated eyes; however, tonographic facility of outflow was unaffected. Uveoscleral flow was also decreased by 38% in BeCl2+ NaF treated eyes. CONCLUSIONS: These findings support the hypothesis that Gs activation of ciliary process adenylyl cyclase decreases aqueous humor formation rate in rabbit eyes, and that activation of G-proteins mediates contraction of ciliary muscles causing a decrease of aqueous humor outflow via the uveoscleral route. The results suggest that G-proteins putatively involved in trabecular facility changes are less sensitive to activation by BeF3- than are other parameters of aqueous humor dynamics.     

Intraocular pressure fluctuations during scleral buckling surgery

PURPOSE: The purposes of this study are to measure real-time intraocular pressure (IOP) during scleral buckling and to determine the effects of elevated IOPs on ocular perfusion. PATIENTS AND METHODS: A standard 4-mm, 20-gauge infusion cannula was inserted through the pars plana, connected to a standard hemodynamic monitoring unit with an electronic pressure transducer, and calibrated. The authors measured real-time IOP in 20 eyes undergoing scleral buckling surgery for primary rhegmatogenous retinal detachments and determined the IOP required to close the central retinal artery. Pressure measurements were read from the monitor videoscreen intraoperatively and from a continuous paper tracing postoperatively. RESULTS: The patients ranged in age from 24 to 88 years (mean, 59.7 years). The highest IOP elevations occurred during scleral depression and cryopexy, ranging up to 210 mmHg (mean, 116 mmHg). Pressures at which the central retinal artery closed ranged from 48 to 110 mmHg (mean, 79.2 mmHg). Manipulations of the globes caused IOPs greater than the central retinal artery perfusion pressures in 13 of the 20 patients. The duration of pressures in excess of the central retinal artery perfusion pressure ranged from 6 to 402 seconds (mean, 118.8 seconds). There were no intraoperative or postoperative complications from the infusion cannula. CONCLUSIONS: Conventional scleral buckling surgery causes wide fluctuations in IOP and may impair ocular perfusion. Additional studies are needed to determine the long-term consequences of these pressure elevations.     

Psychosocial rehabilitation of cranial trauma and stroke patients

This paper presents the results of a longitudinal psychosocial study of 22 cranial trauma patients and 14 stroke patients from the time preceding injury (using retrospective data), through a 4-5 month intensive rehabilitation programme, to a follow-up 1 year after completion of the programme. Although the two groups of patients differed on several demographic and medical characteristics, essentially similar patterns for psychosocial decline following injury and improvement following rehabilitation could be observed. For both groups, the proportion in marital or cohabitational relationships returned to pre-injury levels, and for both groups the proportion requiring assistance in their living situation declined following rehabilitation, as did use of the health services. Virtually all patients in both groups had been in employment or undergoing education at the time of the injury, and although this percentage declined in practice to a small minority of both groups post-injury, there was a significant increase in the proportions working or in education following the rehabilitation programme. Similarly, the pattern of leisure-time activities in both groups declined post-injury and was restored following rehabilitation. Since both groups entered the programme at over 2.5 years post-injury, these generally encouraging results seem less likely to reflect spontaneous recovery than a beneficial effect of the programme itself.     

Influence of litter size and breed on variation in length of gestation in the dog

The variation in the length of gestation, the period from mating until parturition, was studied in 77 dogs of different breeds; the time for mating was determined by measuring peripheral blood progesterone levels. The mean length of gestation was 62.1 +/- 0.2 (S.E.M.) days, with a variation of 11 days. The number of pups appeared to influence the length of gestation. Length of gestation was negatively correlated (r = -0.96, P < 0.001, n = 44) with litter size in litters with 7 or fewer pups. The intra-breed variation in length of gestation in the five breeds represented by five or more bitches was 3-6 days. The mean gestation of Alsatians (60.1 +/- 0.5, n = 9) was shorter (P < 0.005) than that of the other breeds combined (62.3 +/- 0.3, n = 68). The primiparous/multiparous status of the bitch did not influence the length of gestation.