Electrocardiographic QRS duration is influenced by body mass index and sex.

BACKGROUND: Electrocardiogram (ECG) measured QRS duration has been shown to influence cardiovascular outcomes. However, there is paucity of data on whether ECG QRS duration is influenced by obesity and sex in large populations. METHODS: All ECGs performed by a pathology provider over a 2-year period were included. ECGs with confounding factors and those not in sinus rhythm were excluded from the primary analysis. RESULTS: Of the 76,220 who met the inclusion criteria, 41,685 (55%) were females. The median age of the study cohort was 61 years (interquartile [IQR] range 48-71 years). The median QRS duration was 86 ms (IQR 80-94 ms). The median BMI was 27.6 kg/m2 (IQR 24.2-31.8 kg/m2). When stratified according to the World Health Organization classification of BMI < 18.50 kg/m2, 18.50-24.99 kg/m2, 25.00-29.99 kg/m2, and ≥ 30.00 kg/m2, the median QRS durations were 82 ms (IQR 76-88 ms), 86 ms (IQR 80-92 ms), 88 ms (IQR 80-94 ms) and 88 ms (IQR 82-94 ms), respectively (p < 0.001 for linear trend). Median QRS duration for females was 84 ms (IQR 78-88 ms); for males, it was 92 ms (IQR 86-98 ms), p < 0.001. Compared to males, females had narrower QRS complexes at similar age and similar BMI. In multiple linear regression analysis, BMI correlated positively with QRS duration (standardized beta 0.095, p < 0.001) independent of age, sex, and heart rate. CONCLUSIONS: In this large cohort there was a positive association between increasing BMI and QRS duration. Females had narrower QRS duration than males at similar age and similar BMI.

Pathogenic nonsense variant in NFIB in another patient with dysmorphism, Autism Spectrum Disorder, agenesis of the corpus callosum, and intellectual disability.

The Nuclear Factor I (NFI) transcription family (NFIA, NFIB and NFIX) have been implicated in a range of developmental pathologies, including corpus callosum, craniofacial, urinary tract abnormalities, as well in the development of a number of neurodevelopmental developmental phenotypes including muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioural abnormalities. NFIB haploinsufficiency has only recently been presented as a cause for macrocephaly-intellectual disability syndrome, with comparable phenotypes to NFIA related disorder. We add another patient with a previously reported nonsense variant in the NFIB who has Autism Spectrum Disorder level 2, agenesis of the corpus callosum, ADHD, obsessive compulsive Disorder and an intellectual disability. A clinical exome analysis identified a nonsense variant, c.265C > T, p.(Arg89*) involving exon 2 of NFIB (ClinVar variation ID: 424,344). A brain MRI demonstrated agenesis of the corpus callosum.

Temporo-Parietal Flap Incorporated Into a Modified Osteo-Odonto Keratoprostheses Protocol for Longevity of the Dental Lamina.

PURPOSE: To describe a novel pedicled temporo-parietal flap to delay laminar resorption in a modified osteo-odonto keratoprosthesis (MOOKP) and measure resorption of the dental lamina by an objective method. METHODS: A retrospective case series was performed on patients who received an osteo-odontokeratoprosthesis for Steven-Johnson-Syndrome. Surgeries were performed between October 2016 and November 2017 by the same surgical team (G.M. and S.W.). A modified temporo-parietal flap was incorporated into stage 1 of the MOOKP procedure. CT Scans were performed post op and on follow up. Volumetric evaluation was achieved by automated software analysis of 3D reconstructed CT images (Vitrea, Software Version 6.7.6, Cannon Medical Systems ANZ Pty Ltd). RESULTS: The procedure was performed in 3 eyes from 3 patients. Patients were followed up for stage 2 review at 9.6 months on average (22-55 weeks). One case was complicated by early postoperative hematoma of the buccal graft; however, this was managed conservatively. Another case required relaxing incisions at the time of flap creation due to increased vascularized collagenous tissue. On follow up, volume changes in the dental lamina were minimal. CONCLUSIONS: Loss of laminar volume can potentially jeopardize the success of the MOOKP, and consequently cause significant visual, graft or globe complications. The long-term success of this method needs further evaluation; however, initial results suggest a possible role for pedicle grafts in maintenance of the dental lamina. Furthermore, objective CT-based calculation of laminar volume may reduce inter-study variability and standardize comparison of techniques.

HMG-CoA reductase expression in human eyelid tissue and in a human meibomian gland epithelial cell line.

PURPOSE: 3-Hydroxy-3-methyl-glutaryl-coenzyme A reductase (HMGCR), the rate-limiting enzyme of cholesterol production, has been found to contribute to lipid secretion from skin sebaceous glands and hair follicles. We assessed for HMGCR expression in human eyelid tissue and in immortalized human meibomian gland epithelial cells (HMGECs) using immunohistochemistry. METHODS: Full thickness human eyelid specimens in archival paraffin blocks were obtained. A section from each block was stained with hematoxylin and eosin and examined by an ocular pathologist for validation of tissue pathology. Immunohistochemistry was performed using rabbit anti-human HMGCR antibody on serial sections using the Ventana automated staining system. HMGCR expression was examined for in HMEGCs with fluorescence immunocytochemistry and confocal microscopy. RESULTS: Thirteen full thickness eyelid specimens met the inclusion criteria. All specimens contained meibomian glands, and 2 (15%) contained glands of Zeis, 3 (23%) pilosebaceous glands, 2 (15%), accessory lacrimal glands, and 2 (15%), glands of Moll, respectively. Immunohistochemistry showed HMGCR expression in meibocytes of meibomian glands and sebocytes of Zeis and pilosebaceous glands in all specimens. HMGCR expression was also evident in vascular endothelium. Immunofluorescence was positive for HMGCR expression on HMGEC cells. No labeling was seen for the negative Ig control. CONCLUSION: HMGCR was expressed in all eyelid sebaceous-type glands and in HMGECs, consistent with a role for cholesterol production in the genesis of tear film lipids. The observed expression also provides a rationale for using topical statins, inhibitors of HMGCR, as novel tear film lipid stabilizers in conditions such as blepharitis, where meibum production is aberrant.

Neuroradiological Endovascular Intervention for Diplopia in a Case of Aneurysmal Aberrant Regeneration of the Third Nerve.

Aberrant regeneration of the third nerve occurs as a result of synkinetic 'miswiring' of the third nerve following its injury, such as in third cranial nerve palsy due to tumor, trauma, or aneurysm. The case presented is an elderly woman with new vertical diplopia, which led to a diagnosis of a third cranial nerve palsy, thought to be caused by a 5 mm blister aneurysm of the posterior communicating artery. However, neuro-ophthalmological evaluation diagnosed aberrant regeneration of the third nerve, with the cause of her new vertical diplopia being an ipsilateral fourth nerve palsy. The patient underwent endovascular treatment of her aneurysm using stent-assisted coiling. This procedure was complicated by an episode of air embolism, from which the patient made a good recovery. This patient's presentation demonstrates that the cause of any diplopia must be established, and presents a novel, semi-schematic illustration of aberrant regeneration of the third nerve that should aid clinicians in its recognition.

Aqueous Chlorhexidine for Intravitreal Injection Antisepsis: A Case Series and Review of the Literature.

PURPOSE: To determine the incidence of endophthalmitis in a large clinical series using aqueous chlorhexidine for antisepsis before intravitreal injection and to review the ophthalmic literature regarding chlorhexidine efficacy and safety. DESIGN: Multicenter retrospective case series. PARTICIPANTS: All patients receiving intravitreal injections from 7 retinal specialists. METHODS: An audit of intravitreal injections performed by retinal specialists who exclusively used aqueous chlorhexidine 0.05% or 0.1% for prophylaxis of infective endophthalmitis was undertaken. The incidence of endophthalmitis was determined from August 1, 2011, to February 28, 2015. A literature review was performed to critically appraise the ocular safety and efficacy of aqueous chlorhexidine. MAIN OUTCOME MEASURES: Incidence of endophthalmitis after intravitreal injections. RESULTS: A total of 40 535 intravitreal injections were performed by 7 retinal specialists across 3 centers. Chlorhexidine was well tolerated, and only 1 patient with a suspected allergic reaction was noted. Three cases of endophthalmitis were identified with 1 culture-positive case. The 0.0074% (1 in 13 512) per-injection rate of endophthalmitis in this series compares favorably with previous series in which povidone-iodine has been used. CONCLUSIONS: Aqueous chlorhexidine was associated with a low rate of postinjection endophthalmitis and was well tolerated by patients.

A Comparative Cohort Study of Visual Outcomes in Femtosecond Laser-Assisted versus Phacoemulsification Cataract Surgery.

PURPOSE: To evaluate visual outcomes after femtosecond laser-assisted cataract surgery (LCS) with phacoemulsification cataract surgery (PCS). DESIGN: Prospective, multicenter, comparative case series. PARTICIPANTS: Consecutive patients undergoing femtosecond LCS or PCS with intraocular lens insertion. METHODS: A total of 1876 eyes of 1238 patients (422 male and 772 female) who underwent cataract surgery between January 2012 and June 2014 were included in the study: 1017 eyes from center A and 859 eyes from center B. Cases underwent clinico-socioeconomic selection. Patients with absolute LCS contraindications were assigned to PCS; otherwise, all patients were offered LCS and elected on the basis of their decision to pay (the out-of-pocket cost for LCS). Demographic and postoperative data were collected to determine differences between groups. MAIN OUTCOME MEASURES: Six-month postoperative visual and refractive outcomes. Masked subjective refractions were performed 2 to 6 months postoperatively. RESULTS: There were 988 eyes in the LCS group and 888 eyes in the PCS group. Baseline best-corrected visual acuity (BCVA) was better in LCS compared with PCS (20/44.0 vs. 20/51.5; P < 0.0003). Preoperative surgical refractive aim differed significantly between groups (LCS -0.28 vs. PCS -0.23; P < 0.0001). More patients who received LCS had Toric lenses implanted compared with PCS (47.4% vs. 34.8%; P < 0.0001). Postoperative BCVA was better after LCS (20/24.5 vs. 20/26.4; P = 0.0003) with a greater proportion of LCS cases achieving BCVA >20/30 (LCS 89.7% vs. PCS 84.2%; P = 0.0006) and 20/40 (LCS 96.6% vs. PCS 93.9%; P = 0.0077). However, PCS cases had more letters gained compared with LCS cases (13.5 vs. 12.5 letters; P = 0.0088), reflecting baseline BCVA differences. Mean absolute error was higher in LCS compared with PCS (0.41 diopters [D] vs. 0.35 D; P < 0.0011). The percentage of eyes within 0.5 D of error from preoperative aim refraction was higher in the PCS group (LCS 72.2% vs. PCS 82.6%; P < 0.0001). CONCLUSIONS: Femtosecond LCS did not demonstrate clinically meaningful improvements in visual outcomes over conventional PCS.

An intragenic deletion of the NFIA gene in a patient with a hypoplastic corpus callosum, craniofacial abnormalities and urinary tract defects.

BACKGROUND: Chromosome 1p31 deletion (OMIM #613735) involving the NFIA gene (OMIM 600727) is characterised by variable defects in the formation of the corpus callosum, craniofacial abnormalities and urinary tract defects. A review of current literature suggests only seven cases have been reported, none of which had an isolated NFIA gene defect. METHODS: We submit the clinical and molecular features of an 8-year-old female patient with a microdeletion of chromosome 1p31.3 who has developmental delay, metopic synostosis and macroscopic haemoglobinuria. She was investigated with karyotyping, subtelomeric FISH and microarray CGH. RESULTS: Array CGH identified a single 120 kb microdeletion of 1p31.3 involving exons 4-9 of the NFIA gene. Her brain MRI showed hypoplasia of the corpus callosum especially in the posterior areas. Karyotype was normal, ruling out structural chromosomal abnormalities. CONCLUSION: In this study, we confirmed that a microdeletion in the chromosome region 1p31.3 involving the NFIA gene is associated with hypoplasia of the corpus callosum, developmental delay, metopic synostosis and urinary tract abnormalities. Furthermore, we propose a mechanism by which disruptions in the NFIA gene causes craniofacial abnormalities. This report presents the first case of an intragenic deletion within the NFIA gene that is still consistent with classic clinical phenotypes present in previously reported cases of chromosome 1p31.3 related deletion. This finding will help clarify the role of the NFIA gene in the normal formation of parts of the CNS, the craniofacial complex and the urinary tract.