Biomedical subjects
B W Fleck
Publications and source records attributed to B W Fleck.
Trans-orbital intra-cranial air gun injury.
PURPOSE: To describe a case of trans-orbital intra-cranial air gun injury with a discussion on air gun related morbidity and mortality. METHODS: Case report and literature review. RESULTS: The air gun pellet travelled through the orbit without penetrating the globe. It passed into the middle cranial fossa through the superior orbital fissure and lodged in the temporal lobe. The patient was managed conservatively with antibiotics and antiepilectis. CONCLUSIONS: Air gun design has changed in recent years resulting in an increased morbidity and mortality. Stricter legislation on the sale and use of these weapons needs to be implemented.
A survey of visual impairment in children attending the Royal Blind School, Edinburgh using the WHO childhood visual impairment database.
PURPOSE: To assess the aetiology and changing patterns of childhood blindness in one school for the blind in the UK and to assess the use of the World Health Organisation Prevention of Blindness (WHO/PBL) methodology and reporting form in a developed country. METHODS: One hundred and seven children in one school for the blind and visually impaired in Edinburgh were examined using the WHO/PBL childhood blindness assessment form. RESULTS: Of the 107 children examined, 87 (81%) were blind or severely visually impaired (corrected visual acuity of <6/60 (20/200) in the better eye). Perinatal related blindness (40%), hereditary disease (26%) and developmental factors (26%) formed the three largest aetiological categories. CONCLUSION: The pattern of childhood blindness seen in this study was similar to reports from other developed countries. The WHO/PBL reporting form allows detailed comparisons between countries and over time. Additional fields for more detailed reporting of cerebral visual impairment and associated handicaps would increase the usefulness of the WHO/PBL form for population-based studies and for use in developed countries.
Iris coloboma and a microdeletion of chromosome 22: del(22)(q11.22).
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Retinopathy of prematurity: causation.
The incidence of ROP is birth weight dependent and restricting therapeutic oxygen levels has dramatically reduced the incidence of ROP in infants of birth weight >1000 g. However, the incidence of ROP has remained high in very low birth weight (VLBW) infants and this appears to be related to these babies being more ill. Several risk factors have been identified in this group, however oxygen variability, rather than high levels, has been correlated with severity of disease in recent clinical and animal studies. Difficulties in defining 'normal' oxygen in this group has meant the optimal range of oxygen therapy has not yet been defined. Clinical studies are now underway using even lower oxygen therapy ranges. The impact this may have on ROP, neurological and respiratory outcomes will require further study.
Is the partial pressure of carbon dioxide in the blood related to the development of retinopathy of prematurity?
AIMS: To determine the role of carbon dioxide in the development of retinopathy of prematurity (ROP). METHODS: This was a retrospective cohort study of 25 consecutive infants admitted to the neonatal unit with continuously recorded physiological data. The daily mean and standard deviation (SD) of transcutaneous carbon dioxide partial pressure (tcPCO(2)) was compared between infants who had stage 1 or 2 ROP and stage 3 ROP. The time spent hypocarbic (<3 kPa) and/or hypercarbic (>10 kPa and >12 kPa) was also compared between these groups. Intermittent arterial carbon dioxide tension was also measured and compared with the simultaneous tcPCO(2) data. RESULTS: There were no significant differences in carbon dioxide variability or time spent hypocarbic and/or hypercarbic between the ROP groups on any day. 86% of transcutaneous values were within 1.5 kPa of the simultaneous arterial value. CONCLUSION: TcPCO(2) measurement can be a very useful management technique. However, in this cohort neither variable blood carbon dioxide tension nor duration of hypercarbia or hypocarbia in the first 2 weeks of life was associated with the development or severity of ROP.
Optic disc oedema in first degree relatives with different macrovascular risk factors (type 1 diabetes and hypertension).
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Iris coloboma with iris heterochromia: a common association.
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Therapy for retinopathy of prematurity.
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Permanent extraocular muscle damage following botulinum toxin injection.
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Globe perforation during botulinum toxin injection.
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A randomised prospective comparison of operative peripheral iridectomy and Nd:YAG laser iridotomy treatment of acute angle closure glaucoma: 3 year visual acuity and intraocular pressure control outcome.
AIM: To compare visual acuity and intraocular pressure outcomes 3 years after treatment of acute angle closure glaucoma (AACG) by operative peripheral iridectomy (PI) or Nd:YAG laser iridotomy (YAG PI). METHODS: A prospective study of consecutive patients presenting to one ophthalmology department with uniocular AACG during a 2 year period. Following informed consent patients were randomised to bilateral PI or bilateral YAG PI. Three years after treatment the mean Snellen visual acuity converted to logMAR scores of the two groups was compared using the unpaired Student's t test. The number of patients with normal intraocular pressure with no further treatment in each group was compared using the chi 2 test with Yates's correction. RESULTS: 21 patients underwent bilateral PI and 27 bilateral YAG PI. Three years after treatment visual acuity was 0.30 (SD 0.28) log MAR units for PI eyes and 0.57 (0.67) logMAR units for YAG PI eyes (p = 0.08, NS). 15 (70.4%) PI eyes and 19 (71.8%) YAG PI eyes had an intraocular pressure less than 21 mm Hg with no further treatment (NS). CONCLUSIONS: There was no significant difference in visual acuity or intraocular pressure control 3 years after treatment of AACG with PI or YAG PI.
Identification of a new 'TIGR' mutation in a family with juvenile-onset primary open angle glaucoma.
Positional mapping of families segregating for juvenile-onset primary open angle glaucoma (JOAG) has previously identified a locus (GLCIA) for this condition on the long arm of chromosome I. Recently, three mutations in the TIGR gene (Trabecular meshwork Inducible Gluco-corticoid Response protein) have been described in a total of ten familial, three sporadic, and one normal subject. One of the familial cases has also been indicated to be of an adult-onset type. Herein, we report the identification of a new mutation in the TIGR gene in a six generation well-documented Edinburgh family with JOAG. We have sampled and screened the living affected members of this family and identified an 'A'-to-'G' transition at amino acid 337 that has changed the glutamine (Gln) to arginine (Arg). This newly identified mutation resides 27 amino acids 5-prime from the previously reported mutation of Gly-to-Val. This mutation created a new MspI restriction site that has co-segregated perfectly with inherited affected haplotype of the pedigree and, furthermore, it has not been observed in 142 chromosomes of randomly selected subjects of the same population. This report, therefore, confirms the role of the TIGR gene in the etiology of JOAG and adds a new mutation to the three reported previously.
Extracolonic features of familial adenomatous polyposis in patients with sporadic colorectal cancer.
We have investigated the occurrence of attenuated extracolonic manifestations (AEMs) of familial adenomatous polyposis (FAP) in patients with non-polyposis colorectal cancer. In a prospective case-control study, we observed that significantly more colorectal cancer patients exhibited AEM than did age and sex-matched controls (19.5% vs 7.5%, P < 0.004). However patients with AEMs do not have occult FAP, as we found no heterozygous adenomatous polyposis coli (APC) gene mutations despite extensive analysis of constitutional DNA. Genome-wide DNA replication errors (RERs) occur in a proportion of colorectal cancers, particularly right-sided lesions and in almost all tumours from hereditary non-polyposis colorectal cancer (HNPCC) patients. As AEMs have been reported in familial colon cancer cases, we investigated the relationship of AEMs to tumour RER phenotype. There was indeed an excess of AEMs in patients with right-sided tumours (30.2% of 53 patients vs 14.7% of 116 patients, P < 0.03) and in those with RER tumours (3 out of 12 patients with RER tumours vs none out of 21 patients with non-RER tumours, P < 0.05). Two patients with AEM were from HNPCC families compared with none of those without AEM (P < 0.05). The association of AEMs with colorectal cancer is intriguing, and we speculate that it may be a manifestation of mutational mosaicism of the APC gene, perhaps associated with a constitutional defect in DNA mismatch pair.
Transcutaneous oxygen levels in retinopathy of prematurity.
Retinopathy of prematurity (ROP) is a potentially blinding disease of preterm infants. 21 days of computer-recorded transcutaneous oxygen (TcPO2) data were compared in 31 infants with stage 3 or greater ROP and 38 infants with no ROP or stage 1 or 2. In a multiple logistic regression adjusted for significant perinatal factors (birthweight, gestation, and intraventricular haemorrhage), babies with stage 3 or higher ROP showed an increased variability of TcPO2 in week 1 (p < 0.01) and 2 (p = 0.012) but not week 3. Variability of TcPO2 in the first 2 weeks of life is a significant predictor of severe ROP.
Cutaneous malignant melanoma metastatic to the choroid: a clinicopathological case report.
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Microwave ovens may cause serious ocular injury.
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Diode laser treatment for retinopathy of prematurity: structural and functional outcome.
AIMS: The anatomical and functional outcome of 13 babies with retinopathy of prematurity (ROP) treated with binocular indirect ophthalmoscope diode laser photocoagulation was assessed. METHODS: Thirteen babies (25 eyes) at median postmenstrual age (PMA) 25.5 weeks and median birth weight 725 g were treated with binocular indirect ophthalmoscope (BIO) diode laser photocoagulation when threshold retinopathy of prematurity (ROP) was detected at median PMA 35 weeks. Retinopathy was more severe in the nasal retina in 15 eyes. The median severity of retinopathy was 6 clock hours grade 3 disease. All babies were treated under general anaesthetic with no significant ocular or systemic complications during treatment. The median number of burns was 1200. RESULTS: Resolution of active retinopathy occurred 1-2 weeks following treatment in all but one baby. All eyes had favourable anatomical and functional outcome as defined by the Cryo-ROP study group at a median age of 19.5 months of follow up. CONCLUSION: BIO diode laser treatment is as effective as cryotherapy with less morbidity.