Molten aluminium inhalation in the nose and ethmoid sinus. Report of an unusual case

Accidental nasal inhalation of molten aluminium can occur during the industrial production of aluminium in spite of stringent safety precautions. In this case, believed to be the first reported in the literature, the initial evaluation of damage to the nasal mucosa was underestimated, because, in addition to a large nugget of aluminium in one nasal fossa, smaller fragments had penetrated deep into the middle meatus. These smaller fragments, undetected because of the poor radiopacity of aluminium, were responsible for extensive tissue damage which caused ethmoiditis and secondary maxillary sinusitis.     

Photodynamic therapy in young patients with choroidal neovascularization following traumatic choroidal rupture

PURPOSE: To assesses the role of photodynamic therapy (PDT) with verteporfin in young patients with choroidal neovascularization (CNV) secondary to traumatic choroidal rupture. DESIGN: Retrospective case series. METHODS: Of 26 eyes with traumatic choroidal rupture followed since 1984 at the retina service of university hospitals, all eyes diagnosed with CNV and treated with PDT were included. Medical records including comprehensive eye examination, retinal photography, and intravenous fluorescein angiography (IVFA) were studied. RESULTS: Five patients (mean age, 18 years) developed CNV and received an average of two PDT treatments. Three patients had improved visual acuity (VA), one remained stable, and one experienced visual loss. Final IVFA showed absence of leakage in four eyes and decreased leakage in the eye with decreased VA. CONCLUSIONS: In young patients, PDT may be a reasonable treatment for CNV secondary to choroidal rupture. No ocular or systemic PDT complications were encountered in this young population.     

Autoimmune liver disease Aboriginal Communities Northwest and the Canadian First Nations of British Columbia＇s Pacific

Primary biliary cirrhosis (PBC) is a well-known but uncommon chronic liver disease that is presumed to be of autoimmune etiology. Recently, investigations in British Columbia (BC), a province of Canada situated along the Pacific North-West of North America, have suggested that PBC is not a rare disease amongst BC's Aboriginal (i.e. First Nations) communities. Geographically, BC is adjacent to South East Alaska, an American state that has also reported an increased prevalence of PBC amongst its Aboriginal communities. In this article, the medical evidence supporting a hypothesis of increased risk of PBC amongst BC's First Nations communities is reviewed. Evidence suggesting that autoimmune hepatitis is also more likely amongst BC's First Nations communities is also presented.     

Lipocalin 2 is a novel immune mediator of experimental autoimmune encephalomyelitis pathogenesis and is modulated in multiple sclerosis

Experimental autoimmune encephalomyelitis (EAE) is a widely used animal model of multiple sclerosis (MS), an inflammatory, demyelinating disease of the central nervous system (CNS). EAE pathogenesis involves various cell types, cytokines, chemokines, and adhesion molecules. Given the complexity of the inflammatory response in EAE, it is likely that many immune mediators still remain to be discovered. To identify novel immune mediators of EAE pathogenesis, we performed an Affymetrix gene array screen on the spinal cords of mice at the onset stage of disease. This screening identified the gene encoding lipocalin 2 (Lcn2) as being significantly upregulated. Lcn2 is a multi-functional protein that plays a role in glial activation, matrix metalloproteinase (MMP) stabilization, and cellular iron flux. As many of these processes have been implicated in EAE, we characterized the expression and role of Lcn2 in this disease in C57BL/6 mice. We show that Lcn2 is significantly upregulated in the spinal cord throughout EAE and is expressed predominantly by monocytes and reactive astrocytes. The Lcn2 receptor, 24p3R, is also expressed on monocytes, macrophages/microglia, and astrocytes in EAE. In addition, we show that EAE severity is increased in Lcn2(-/-) mice as compared with wild-type controls. Finally, we demonstrate that elevated levels of Lcn2 are detected in the plasma and cerebrospinal fluid (CSF) in MS and in immune cells in CNS lesions in MS tissue sections. These data indicate that Lcn2 is a modulator of EAE pathogenesis and suggest that it may also play a role in MS.     

Multifactorial inheritance of non-syndromic macrocephaly

Objective: To reevaluate previous claims that non-syndromic macrocephaly is usually inherited as an autosomal dominant trait. Design: Head size was measured in the parents and sibs of children with non-syndromic macrocephaly. Outcome measures: If autosomal dominant inheritance is involved, the frequency distribution should be bimodal. Results: Head circumference of parents and sibs of the macrocephalic probands had a mean significantly greater than the population norm, and a unimodal distribution. Probands with psychomotor impairment had bigger heads, and more had a history of birth difficulty, than did unimpaired probands. Conclusions: The usual genetic basis for non-syndromic macrocephaly is multifactorial with a polygenic genetic basis, rather than autosomal dominant. Risk of recurrence appears to be much lower than if it would be on the assumption ot autosomal dominant inheritance. Macrocephaly in a parent or sib of an unborn child may present a risk for birth injury to that child. A larger series of patients will be necessary | to resolve this question.     

Exome sequencing identified a de novo mutation of PURA gene in a patient with familial Xp22.31 microduplication

The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600?Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was transmitted from his cognitively normal maternal grandfather.We found no evidence of the duplication causing the proband's DD and congenital anomalies based on unaltered expression of PNPLA4 in the proband and his mother in comparison to controls and preferential activation of the paternal chromosome X with Xp22.31 duplication in proband's mother. However, a de novo, previously reported deleterious, missense mutation in Pur-alpha gene (PURA) (5q31.2), with a role in neuronal differentiation was detected in the proband by exome sequencing.We propose that the variability in the phenotype in carriers of Xp22.31 microduplication can be due to a second and more deleterious genetic mutation in more severely affected carriers. Widespread use of whole genome next generation sequencing in families with Xp22.31 CNV could help identify such cases.     

Severe Maternal Morbidity in Canada: Temporal Trends and Regional Variations, 2003-2016

ObjectiveThis study sought to quantify temporal trends and provincial and territorial variations in severe maternal morbidity (SMM) in Canada.MethodsThe study used data on all hospital deliveries in Canada (excluding Québec) from 2003 to 2016 to examine temporal trends and from 2012 to 2016 to study regional variations. SMM was identified using diagnosis and intervention codes. Contrasts among periods and regions were quantified using rate ratios (RRs) and 95% confidence intervals (CIs). Temporal changes were also assessed using chi-square tests for trend (Canadian Task Force Classification II-1).ResultsThe study population included 3 882 790 deliveries between 2003 and 2016 and 1 418 545 deliveries between 2012 and 2016. Severe hemorrhage rates increased from 44.8 in 2003 to 62.4 per 10 000 deliveries in 2012 (P for trend <0.0001) and then declined to 41.8 per 10 000 deliveries in 2016 (P for trend <0.0001). Maternal intensive care unit admission and sepsis rates decreased between 2003 and 2016, whereas rates of stroke, severe uterine rupture, hysterectomy, obstetric embolism, shock, and assisted ventilation increased. Rates of composite SMM in 2012-2016 were higher in Newfoundland and Labrador (RR 1.15; 95% CI 1.04–1.26), Nova Scotia (RR 1.11; 95% CI 1.03–1.19), New Brunswick (RR1.22; 95% CI 1.13–1.32), Manitoba (RR 1.09; 95% CI 1.03–1.15), Saskatchewan (RR 1.15; 95% CI 1.09–1.22), the Yukon (RR 1.74; 95% CI 1.35–2.25), and Nunavut (RR 1.76; 95% CI 1.46–2.11) compared with the rest of Canada, whereas rates were lower in Alberta and British Columbia.ConclusionThis surveillance report helps inform clinical practice and public health policy for improving maternal health in Canada.