A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract.
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Arginine↗
Biomedical subjects
C E Willoughby
Publications and source records attributed to C E Willoughby.
Epstein-Barr virus (types 1 and 2) in the tear film in Sjogren's syndrome and HIV infection.
Evidence of Epstein-Barr virus (EBV) shedding in the saliva and tear film has been sought to explain the pathogenesis of the oral and ocular features of Sjogren's syndrome. Patients with human immunodeficiency virus (HIV) infection are purported to have a higher incidence of keratoconjunctivitis sicca. Twenty patients with definite Sjogren's syndrome (primary and secondary), 19 with HIV infection, and 15 normal controls were recruited and studied. Human herpes viruses (EBV 1 and 2, CMV, HZV, and HSV-1) in tear film were detected by polymerase chain reaction of DNA extracted from Schirmer strips. HSV-1, VZV, and CMV were not detected in any tear samples. EBV-1 DNA was found in the tear film of 4 patients with Sjogren's syndrome, which was not significantly different from the control group (P = 0.18). Twelve patients with HIV infection had evidence of EBV-1 in their tears, which was significantly different from controls (P = 0.0002) and patients with Sjogren's syndrome (P = 0.014). EBV-2 was found in 3 patients with HIV and in 1 patient with secondary Sjogren's syndrome, and was always found as a co-infection with EBV-1 (P = 0.01). This represents the first report examining EBV types 1 and 2 in the tear film and also EBV in the tear film of patients with HIV. Shedding of EBV in the tear film was not related to the presence of keratoconjunctivitis sicca in Sjogren's syndrome. EBV-2 co-infection with EBV-1 has not been previously reported in the tear film. EBV infection is abnormally regulated in Sjogren's syndrome and HIV, and it is likely that the presence of EBV in the tear film is related to the patients' altered immune status.
Adolescent↗
Effects of Percoll separation, cryoprotective agents, and temperature on plasma membrane permeability characteristics of murine spermatozoa and their relevance to cryopreservation.
Cryopreservation of murine spermatozoa would provide an efficient method for preserving important genotypes. However, to date such methods have resulted in low survivals with significant variability. To address this issue, a series of five experiments was performed to determine the cryobiological characteristics of murine spermatozoa. Experiments 1 and 2 investigated the effect of Percoll separation on the hydraulic conductivity (L(p)) of murine spermatozoa. Both Percoll separation and cryoprotective agents (CPAs) decreased the L(p). However, these effects were not additive. Experiment 3 was performed to determine the effect of temperature on L(p) in the presence of cryoprotectants (L(p)(CPA)), cryoprotectant permeability (P(CPA)), and the reflection coefficient (sigma) in spermatozoa from both ICR and B6C3F1 mice. Permeability parameters decreased as temperature decreased, and permeability characteristics differed between strains. In experiments 4 and 5, theoretical simulations for CPA addition and removal were developed and empirically tested. Strain-specific methods for CPA addition and removal based upon the fundamental cryobiological characteristics of murine spermatozoa resulted in higher survivals than current methods or procedures, which were used as controls.
Animals↗
The presence of congenital hypertrophy of the retinal pigment epithelium in a subgroup of patients with adenomatous polyposis coli mutations.
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Adenomatous Polyposis Coli↗
Osmotic tolerance limits and properties of murine spermatozoa.
Osmotic tolerance of spermatozoa is a critical determinant of functional survival after cryopreservation. This study first tested the hypothesis that mouse spermatozoa behave as linear osmometers, using an electronic particle counter to measure the change in sperm volume in response to anisosmotic solutions. The resulting Boyle-van't Hoff plot was linear (r2 = 0.99) from 75 to 1200 mOsmolal and indicates that 60.7% of the total cell volume is osmotically inactive. Next, mouse sperm tolerance to osmotic stress was determined by assessment of plasma membrane integrity, mitochondrial viability, and motility. Each functional endpoint was measured after exposure to anisosmotic solutions and again after return to isosmolality. The dual fluorescent stains-carboxyfluorescein diacetate with propidium iodide and Rhodamine 123 with propidium iodide-were used to determine membrane integrity and functional mitochondria, respectively. Motility was measured by video microscopy in the range of 1-2400 mOsmolal and was further analyzed from 140 to 600 mOsmolal using computer-assisted semen analysis. The data indicate that motility is substantially more sensitive to osmotic stress than either mitochondrial viability or membrane integrity and that mouse spermatozoa should be maintained within 76-124% of their isosmotic volume during cryopreservation in order to maintain > 80% of pretreatment motility.
Animals↗
Assessment of the value of congenital hypertrophy of the retinal pigment epithelium as an ocular marker for familial adenomatous polyposis coli.
The presence of bilateral, multiple patches of congenital hypertrophy of the retinal pigment epithelium (CHRPE) is cited as an early phenotypic marker of the familial adenomatous polyposis coli (FAPC) gene. However, the degree of concordance between CHRPE and the presence of familial adenomatous polyposis (FAP) has not been adequately assessed in individual families. We studied the eyes of 28 members of a single kindred spanning three generations with FAPC; 14 were affected and 14 unaffected but 'at risk'. Six affected and 8 unaffected at risk individuals possessed a total of 34 retinal lesions, 17 in each group. Two affected individuals and 1 at risk individual had the classical pattern of CHRPE associated with FAPC. The sensitivity of CHRPE as an ocular marker for FAPC in this kindred was 14.2%. Our findings have implications for the use of CHRPE for the presymptomatic screening of family members at risk of FAPC. Therefore, ocular examination should not replace colonoscopic screening in an individual at risk of FAPC.
Adenomatous Polyposis Coli↗
Collagen corneal shields.
Collagen corneal shields were developed as a corneal bandage lens and are currently indicated for ocular surface protection following surgery and in traumatic and nontraumatic corneal conditions. Collagen shields are manufactured from porcine or bovine collagen and three different collagen shields are currently available with dissolution times of 12, 24, and 72 hours. The theoretical, experimental, and clinical evidence supports a role for collagen corneal shields as a drug delivery device and in the promotion of epithelial and stromal healing. Presoaking the collagen shield in a pharmacological agent with adjunctive topical treatment represents the most efficacious method of utilizing collagen shields for drug delivery. In microbial keratitis collagen shields can enhance drug delivery, promote epithelial and stromal healing, neutralize collagenases, and reduce corneal inflammation. This review will examine the evidence that supports the role of collagen shields in drug delivery and corneal wound healing. Despite a large volume of experimental (animal) work, studies on human subjects, particularly randomized controlled trials, are lacking. The authors are advocating the reassessment of the application and benefits of corneal collagen shields to clinical practice.
Anti-Bacterial Agents↗