Fifteen-year-old female patient, previously healthy, referred to our center for presenting abdominal pain, vomiting, diarrhea, malar erythema, palpebral and lower limb edema, arthralgia, morning ...stiffness and bilateral blurred vision. Laboratory and imaging studies together with the clinic allowed the diagnosis of nephrotic syndrome secondary to systemic lupus erythematosus. Ophthalmology examination revealed a visual acuity of 8/10 in both eyes and bilateral disc edema with partial macular star, findings compatible with bilateral neuroretinitis. Renal biopsy established the diagnosis of membranous lupus nephritis. Immunosuppressive treatment was started, obtaining gradual clinical improvement.
Although systemic lupus erythematosus with membranous lupus nephritis and neuroretinitis is a very infrequent association, when faced with a patient with bilateral neuroretinitis, we must consider systemic lupus erythematosus within the differential diagnoses.
Joven de 15 años, previamente sana, se presentó con dolor abdominal, vómitos, diarrea, eritema malar, edema palpebral y en miembros inferiores, artralgias, rigidez matinal y visión borrosa bilateral. Estudios de laboratorio y por imágenes junto con la clínica permitieron realizar el diagnóstico de síndrome nefrótico secundario a lupus eritematoso sistémico. Al examen oftalmológico se constató 8/10 de visión en ambos ojos y edema de papila bilateral con estrella macular parcial, hallazgos compatibles con una neurorretinitis bilateral. La biopsia renal estableció el diagnóstico de nefritis lúpica membranosa. Se inició tratamiento inmunosupresor, con mejoría clínica gradual.
Si bien el lupus eritematoso sistémico con nefritis lúpica membranosa y neurorretinitis es una asociación muy infrecuente, frente a un paciente con neurorretinitis bilateral debemos considerar al lupus eritematoso sistémico dentro de los diagnósticos diferenciales.
Congenital ectropion in Noonan syndrome Dorronsoro, M.; Bertino, M.; Suarez, J.M. ...
Archivos de la Sociedad Española de Oftalmología (English ed.),
April 2024, 2024-Apr, 2024-04-00, Letnik:
99, Številka:
4
Journal Article
Recenzirano
Ten-year-old female patient, with facial dysmorphia, scoliosis, short stature, muscular hypotonia, patent foramen ovale and maturational delay, presented for correction of bilateral congenital ...ectropion. Ophthalmological examination revealed bilateral lower eyelid ectropion, euryblepharon and lagophthalmos, with a positive Bell’s phenomenon. She was treated with full-thickness autologous skin grafts on the lower eyelids with bilateral lateral canthoplasty, resolving the ectropion and improving eyelid occlusion. Subsequently, a genetic study was performed that revealed a mutation in the PTPN11 gene and allowed, together with the clinical picture, to make the diagnosis of Noonan syndrome.
Noonan syndrome is a multisystem genetic disorder with a wide variety of phenotypes, which usually presents with ocular and periocular disorders. Eyelid ectropion, a distinctive feature of this patient, is a rare ophthalmological manifestation of this syndrome that can be corrected with full-thickness skin graft and lateral canthoplasty.
Niña de 10 años, con dismorfia facial, escoliosis, baja talla, hipotonía muscular, foramen oval permeable y retraso madurativo, concurre para corrección de ectropión congénito bilateral. Al examen oftalmológico se constató ectropión palpebral inferior, euribléfaron y lagoftalmos bilaterales, con fenómeno de Bell positivo. Se realizó injertos cutáneos autólogos de espesor completo en párpados inferiores con cantoplastia lateral bilateral, resolviendo el ectropión y mejorando la oclusión palpebral. Posteriormente, se hizo un estudio genético que reveló una mutación en el gen PTPN11 y permitió, junto a la clínica, hacer el diagnóstico de síndrome de Noonan.
El síndrome de Noonan es un trastorno genético multisistémico con una gran variedad de fenotipos, que suele cursar con alteraciones oculares y perioculares. El ectropión palpebral, característica distintiva de esta paciente, es una manifestación oftalmológica infrecuente de este síndrome que puede corregirse con injerto cutáneo de espesor completo y cantoplastia lateral.
Summary
Background
Asthma is a highly prevalent chronic inflammatory disease characterised by reversible airflow obstruction and hyperreactivity and inflammation of the airways. Factors that cause ...and/or trigger asthma attacks include host‐related factors (genetic predisposition, obesity and sex) and environmental factors (allergens, infections, occupational sensitisation, smoking status, pollution and diet).
Objective
To describe the epidemiology of asthma exacerbations (AEs) in the Basque Country and to explore its relationship with potentially associated environmental variables. We studied a total of 31 579 emergency department (ED) visits and 28 189 hospitalisations due to asthma. We describe the trends, incidence, seasonality and the influence of age and sex, as well as of exposure to NO2, CO, PM, O3, and pollen, temperature, relative humidity and flu status. We calculated the Pearson′s R correlation coefficient for the study variables.
Results
The incidence was 486 and 88.9 cases per 100 000 people for ED visits and hospitalisations, respectively. Slightly over half (53.5%) of the ED cases were male, while females represented 62.6% of the hospital admissions. Hospitalisations are tending to decrease in children and increase in over 64‐year‐olds. Peaks in cases occur at the beginning of autumn in children and in winter in adults. AEs were correlated positively with exposure to NO2, CO and to the influenza virus and negatively with temperature and exposure to O3. These relationships vary, however, with age and season.
Conclusions and Clinical Relevance
Rates of hospitalisation for AEs and trends in these rates over time are different in adults and children with the patterns varying by sex, season and environmental conditions.
Environmental carcinogens contained in air pollution, such as polycyclic aromatic hydrocarbons, aromatic amines or N-nitroso compounds, predominantly form DNA adducts but can also generate ...interstrand cross-links and reactive oxygen species. If unrepaired, such lesions increase the risk of somatic mutations and cancer. Our study investigated the relationships between 22 polymorphisms (and their haplotypes) in 16 DNA repair genes belonging to different repair pathways in 1094 controls and 567 cancer cases (bladder cancer, 131; lung cancer, 134; oral–pharyngeal cancer, 41; laryngeal cancer, 47; leukaemia, 179; death from emphysema and chronic obstructive pulmonary disease, 84). The design was a case–control study nested within a prospective investigation. Among the many comparisons, few polymorphisms were associated with the diseases at the univariate analysis: XRCC1-399 Gln/Gln variant homozygotes odds ratios (OR) = 2.20, 95% confidence intervals (CI) = 1.16–4.17 and XRCC3-241 Met/Met homozygotes (OR = 0.51, 95% CI = 0.27–0.96) and leukaemia. The recessive model in the stepwise multivariate analysis revealed a possible protective effect of XRCC1-399Gln/Gln in lung cancer (OR = 0.22, 95% CI = 0.05–0.98), and confirmed an opposite effect (OR = 2.47, 95% CI = 1.02–6.02) in the leukaemia group. Our results also suggest that the XPD/ERCC1-GAT haplotype may modulate leukaemia (OR = 1.28, 95% CI = 1.02–1.61), bladder cancer (OR = 1.38, 95% CI = 1.06–1.79) and possibly other cancer risks. Further investigations of the combined effects of polymorphisms within these DNA repair genes, smoking and other risk factors may help to clarify the influence of genetic variation in the carcinogenic process.
Objectives: This paper describes the dietary intake of total fat, saturated (SFA), monounsaturated (MUFA) and polyunsaturated fatty acids (PUFA) and cholesterol of participants in the European ...Prospective Investigation into Cancer and Nutrition (EPIC) in 27 centres across 10 countries. Methods: Between 1995 and 2000, a stratified random sample of 36 034 participants (age range 35–74 years) completed a standardized 24-h dietary recall, assessed by means of the computer software EPIC-SOFT. Lipid intake data were calculated using a standardized nutrient database. Results: On average, the contribution of fat to total energy intake was >or= 34% of energy intake (%en) in women and >or= 36%en in men for most EPIC centres, except for the British, Dutch and most Italian cohorts. Total fat (>40%en) and MUFA intakes (21%en, mainly from olive oil) were highest in Greece. Except for the Greek, Spanish and Italian centres, the average MUFA intake ranged between 10 and 13%en, with a high proportion derived from animal sources. SFA intake in women and men was lowest in the Greek, Spanish, Italian and UK cohorts with an average of <or= 13%en (down to 9%en), and highest in the Swedish centres (16%en). The mean PUFA intake was in the range of 4–8%en, being highest in the UK health-conscious cohort. The average cholesterol intake across EPIC varied from 140 to 384 mg/d in women and 215–583 mg/d in men. Conclusions: The presented data show differences and similarities in lipid intake across the European EPIC cohorts and also show differences in food sources of dietary lipids.
Abstract Background and aims The evidence about the benefits of omega-3 fatty acid intake on coronary heart disease (CHD) is not consistent. We thus aimed to assess the relation between dietary ...intake of total omega-3 fatty acids (from plant and marine foods) and marine polyunsaturated fatty acids (PUFAs), eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA), on the risk of CHD in the Spanish cohort of the European Prospective Investigation into Cancer and Nutrition (EPIC). Methods and results The analysis included 41,091 men and women aged 20–69 years, recruited from 1992 to1996 and followed-up until December 2004. Omega-3 fatty acid intake was estimated from a validated dietary questionnaire. Only participants with definite incident CHD event were considered as cases. Cox regression models were used to assess the association between the intake of total omega-3 fatty acids, EPA or DHA and CHD. A total of 609 participants (79% men) had a definite CHD event. Mean intakes of total omega-3 fatty acids, EPA and DHA were very similar in the cases and in the cohort, both in men and women. In the multivariate adjusted model, omega-3 fatty acids, EPA and DHA were not related to incident CHD in either men or women. The hazard ratios (HR) for omega-3 were 1.23 in men (95% CI 0.94–15.9, p = 0.20); and 0.77 in women (95% CI 0.46–1.30, p = 0.76). Conclusion In the Spanish EPIC cohort, with a relatively high intake of fish, no association was found between EPA, DHA and total omega-3 fatty acid intake and risk of CHD.
High intakes of unprocessed red or processed meat may increase the risk of stroke. We aimed to examine the association between unprocessed red meat, processed meat and total red meat consumption and ...risk of total stroke and ischaemic stroke.
Cox proportional hazards regression analyses were conducted based on the data for 41,020 men and women aged 29-69 years at baseline.
During a mean follow-up of 13.8 years, 674 incident cases of stroke (531 ischaemic strokes, 79 haemorrhagic strokes, 42 subarachnoid haemorrhages and 22 mixed or unspecified events) were identified. After multiple adjustment, unprocessed red meat, processed meat and total red meat consumption were not correlated with incidence of total stroke or ischaemic stroke in either men or women. The hazard ratios (HRs) for unprocessed red meat and processed meat and risk of total stroke comparing the highest with the lowest quintiles were, respectively, 0.81 (95% confidence interval (CI) 0.54-1.21; P-trend=0.15) and 0.92 (95% CI 0.64-1.32; P-trend=0.82) in men and 1.21 (95% CI 0.79-1.85; P-trend=0.10) and 0.81 (95% CI 0.51-1.27; P-trend=0.17) in women. The HRs for unprocessed red meat and processed meat and risk of ischaemic stroke were, respectively, 0.80 (95% CI 0.51-1.25; P-trend=0.51) and 0.86 (95% CI 0.57-1.29; P-trend=0.77) in men and 1.24 (95% CI 0.74-2.05; P-trend=0.13) and 0.82 (95% CI 0.47-1.42; P-trend=0.31) in women.
In the Spanish European Prospective Investigation into Cancer and Nutrition (EPIC) cohort, unprocessed red meat and processed meat consumption were not associated with risk of stroke in men or women.
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