Association of HMGBP1 expression with clinical periimplant parameters among smokers and never-smokers with and without peri-implantitis.

OBJECTIVE: With our study we aimed at investigating the levels of high mobility group box chromosomal protein-1 (HMGB-1), tumor necrosis factor-alpha (TNF-α) and interleukin (IL)-1ß in periimplant crevicular fluid (PICF) of smokers and never-smokers, with and without periimplantitis, and correlate these levels with the clinical and radiographic periimplant parameters. SUBJECTS AND METHODS: Sixty participants (n=15/group) were recruited and divided into 4 groups: cigarette smokers with periimplantitis (CSPI); cigarette smokers without periimplantitis (CSNPI); never-smokers with periimplantitis (NSPI); and never-smokers without periimplantitis (NSNPI). Clinical and radiographic periimplant parameters, including plaque scores (PS), bleeding on probing (BOP), probing depth (PD) and crestal bone level (CBL), were assessed. Crevicular levels of HMGB-1, TNF-α, and IL-1ß were quantified using human enzyme linked immunosorbent assay. p-values were generated using Kruskal-Wallis' test for comparison between the study groups, while correlations between HMGB-1, TNF-α, IL-1ß levels and clinical variables were analyzed using Spearman rank correlation coefficient analysis. RESULTS: Bleeding on probing was least in NSNPI and CSNPI followed by CSPI and NSPI (p<0.05). The highest PD and CBL was recorded for CSPI and NSPI groups, while the least PD and CBL were recorded among non-periimplantitis groups. HMGB-1 and IL-1ß were found to be significantly highest in CSPI groups followed by NSPI and CSNPI groups with no statistically significant difference between CSPI and NSPI groups (p<0.05). CSPI groups reported the highest TNF-α levels in the PICF in comparison to other groups (p<0.05). A significant negative correlation was observed between plaque scores (p=0.0187) and CBL (p=0.0049) in NSNPI and CSPI groups with HMGB-1, respectively. A significant positive correlation was seen for HMGB-1 in groups CSPI (p=0.0023) and NSPI (p=0.0018) for BOP. In CSPI group, a significant positive correlation was observed between TNF-α and PD (p=0.0443). On correlating IL-1ß, a significant positive correlation was observed for CBL in CSPI (p=0.0006) and NSPI (p=0.0275) groups, respectively. CONCLUSIONS: HMGB-1 could play a significant role in periimplant inflammatory response and inflammation. Higher crevicular fluid HMGB-1 levels are indicative of a possible surrogate biomarker for peri-implantitis.

A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis.

BACKGROUND: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity. RPGRIP1 is ubiquitously expressed, but mutations in RPGRIP1 lead to a retina-restricted phenotype, such as Leber congenital amaurosis and cone-rod dystrophy. PATIENT AND METHODS: We analysed a consanguineous family from Egypt in which one individual, a four-year-old girl, was affected with Leber congenital amaurosis. IROme, a proprietary enrichment system for retinal dystrophy genes, was applied and high throughput sequencing was performed. RESULTS: Severe visual impairment was reported during infancy. The fundus of the affected patient exhibited disc pallor and attenuated vessels. Neurodevelopmental delay and brain atrophy in the CT scan were reported. Genomic sequencing identified a novel homozygous deletion, c.[420delG], in RPGRIP1. This mutation was not detected in 80 ethnically matched controls and has not been reported elsewhere. CONCLUSIONS: Identifying new mutations in Leber congenital amaurosis-related genes and their clinical manifestations can improve our understanding of the disease and could help to stratify the population for potential therapies.

Cone-rod dystrophy caused by a novel homozygous RPE65 mutation in Leber congenital amaurosis.

BACKGROUND: The aim of this study was to describe an unexpected phenotype in a family with Leber congenital amaurosis (LCA) due to a retinal pigment epithelium-specific protein 65 kDa (RPE65) homozygous mutation. HISTORY AND SIGNS: We analyzed a family from Yemen in which 3 individuals were affected with LCA. Linkage analysis using markers flanking the known LCA genes was done, followed by direct sequencing of RPE65. THERAPY AND OUTCOME: Severe visual impairment and night blindness were observed during infancy. We observed photophobia only in the 8-year-old patient. The youngest affected had bilateral hyperopia of +3.50 and visual acuity of 1/60. The oldest two had visual acuity limited to hand movements in the right eye (OD) and counting fingers in the left eye (OS) for the oldest and of 5/60 OD, 6/60 OS for the other. They showed disc pallor, attenuated vessels, white flecks in the retina mid-periphery and bull's eye maculopathy. ERGs of the oldest child were completely unresponsive. Genomic sequencing identified a novel homozygous missense mutation, IVS2-3C>G, in the second RPE65 intron. CONCLUSIONS: We identified a novel LCA-related homozygous RPE65 mutation associated with a severe clinical presentation including an early and severe cone dysfunction. This is in contrast with the presentation associated with other RPE65 mutations predominantly causing rod-cone dystrophy with residual visual function.

[Ophthalmology. New trends in cataract surgery]. / Ophtalmologie. Nouvelles tendances dans la chirurgie de la cataracte.

Cataract surgery is the most frequent surgery performed in the world. Modernization of cataract surgery is a continuous process and recent technological progress have enlarged the spectrum of treatable refractive errors, improved safety of surgery, speed of visual recovery and reduction of complications rate. Thus, during the last years, refractive intraocular lenses such as toric and multifocal IOLS have been introduced in practice, as well as torsional phacoemulsification and corneal microincision. For endophthalmitis prophylaxis, modern management includes intracameral injection of antibiotics. The future of cataract surgery is probably to replace phacoemulsification surgery by laser surgery, which is safer and more reproducible.

Knowledge and practices of pregnant women about folic acid in pregnancy in Abu Dhabi, United Arab Emirates.

This study assessed the knowledge and practices about folic acid in pregnancy among pregnant women attending 2 main maternal and child health centres in Abu Dhabi. The majority of the 277 interviewed mothers (79.1%) had heard of folic acid and 46.6% had accurate knowledge about the role of folate in preventing neural tube defects. There were good practices regarding folate supplementation in the current pregnancy; most of the interviewed mothers took it daily and in the recommended dose. However, only a minority took it prior to pregnancy. Education, irrespective of age or parity, was the major factor determining better knowledge of folic acid in pregnancy.

Knowledge and practices of pregnant women about folic acid in pregnancy in Abu Dhabi, United Arab Emirates

This study assessed the knowledge and practices about folic acid in pregnancy among pregnant women attending 2 main maternal and child health centres in Abu Dhabi. The majority of the 277 interviewed mothers [79.1%] had heard of folic acid and 46.6% had accurate knowledge about the role of folate in preventing neural tube defects. There were good practices regarding folate supplementation in the current pregnancy; most of the interviewed mothers took it daily and in the recommended dose. However, only a minority took it prior to pregnancy. Education, irrespective of age or parity, was the major factor determining better knowledge of folic acid in pregnancy

Severe occlusive vasculitis as a complication of cat scratch disease.

BACKGROUND: The purpose of this communication is to report a severe occlusive vasculitis as a complication of cat scratch. HISTORY AND SIGNS: A 34-year-old Hispanic woman presented with a sudden visual loss of the right eye associated with shivers, high fever and arthritis which developed 2 months after a cat's bite. Fundus examination showed papillitis and a palor of the paramacular zone of the retina. Fluorescein angiography revealed multiple arterial and venous vasculitic occlusions. THERAPY AND OUTCOME: Auto-immune disease and endocarditis were ruled out by an extensive medical work-up. The diagnosis of Bartonella henselae was confirmed by a positive serology. A systemic antibiotherapy with azithromycin, doxycyclin, rifampicin and steroid therapy resulted in a good clinical response, including a rapid visual recovery with a visual acuity of 20/20 and no relapse of the disease at 6 months follow-up. CONCLUSIONS: Ocular complications associated with cat scratch disease may include vasculitis with both arterial and venous occlusions causing severe visual loss.

Timing of planned repeated caesarean section: an enigma.

We aimed to explore the current trends among obstetric consultants in timing planned caesarean sections in patients with previous caesarean deliveries. A questionnaire was sent to 129 consultant obstetricians and gynaecologists. The questionnaire included closed questions about the preferred gestational age to perform an elective caesarean section in patients with previous one, two, three or more caesarean deliveries and in patients with a previous classical caesarean scar. The study was confined to NHS hospitals at the Eastern and London Deaneries, UK. The main outcome measure was the gestational age at which a planned caesarean section was preferred. The percentage of consultants who preferred to do caesarean section at 39 weeks or more gestational age in patients with previous one, two, three or more and a classical caesarean section were 93.6%, 87.3%, 71.3% and 35.9%, respectively. A considerable body of obstetricians plan to perform elective caesarean sections at a gestational age <39 weeks in patients with three or more previous abdominal deliveries and in patients with a previous classical caesarean section. There are no randomised controlled trials to address the best practice in these cases. Looking at the available evidence in the literature, it seems unjustified to perform the caesarean section at an earlier gestational age for patients with previous multiple caesarean sections but there is some evidence to support this policy in patients with a previous classical section.

A G1103R mutation in CRB1 is co-inherited with high hyperopia and Leber congenital amaurosis.

PURPOSE: To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis (LCA) in a family of Middle Eastern origin. MATERIALS AND METHODS: The patients were examined using standard ophthalmic techniques. DNA samples were obtained and genetic linkage was carried out using polymorphic markers flanking the known genes and loci for LCA. Exons were amplified and sequenced. RESULTS: All four members of this family affected by LCA showed high to extreme hyperopia, with average spherical refractive errors ranging from +5.00 to +10.00. Linkage was obtained to 1q31.3 with a maximal LOD score of 5.20 and a mutation found in exon 9 of the CRB1 gene, causing a G1103R substitution at a highly conserved site in the protein. CRB1 is a vertebrate homolog of the Drosophila crumbs gene, which is required for photoreceptor morphogenesis, and has been associated with either retinitis pigmentosa (RP) or LCA. This sequence variant has previously been reported as a compound heterozygote in one sporadic LCA patient. CONCLUSION: Although hyperopia has been associated with LCA, it is typically moderate and variable between patients with the same mutation. In addition, some CRB1 mutations can be associated with either RP or LCA. We have shown that hyperopia and LCA are linked to the mutant CRB1 gene itself and are not dependent on unlinked modifiers.

Postmenopausal bleeding on hormone replacement therapy: review of the current referral guidelines.

The object of this study was to reassess the current NHS guidelines regarding the type of referrals for patients on hormone replacement therapy (HRT) presenting with postmenopausal bleeding (PMB). The guidelines are published on the following website: < http://www.doh.gov.uk/pub/docs/doh/guidelines.pdf >.

Pre-term delivery by Caesarean section 'en caul': a case series.

Twenty-four pre-term infants (24-32 weeks) were delivered by Caesarean section 'en caul', i.e. with the membranes left intact until the whole pregnancy sac had been delivered. Seventeen survived to discharge from hospital (29% mortality, 26% after exclusion of lethal congenital abnormality). Three babies had a cord haemoglobin below 15 g/dl at delivery and 11 required blood transfusion. None had any other recognisable cause for the anaemia. Although en caul delivery has obvious theoretical advantages, the danger of causing fetal blood loss is real and should be evaluated in a randomised controlled trial before widespread application.