scholarly journals Genotype–Phenotype Correlations in a Prospective Cohort Study of Paediatric Plaque Psoriasis: Lack of Correlation Between HLA-C*06 and Family History of Psoriasis

2014 ◽  
Vol 94 (6) ◽  
pp. 667-671 ◽  
Author(s):  
A Oostveen ◽  
J Bergboer ◽  
P Kerkhof ◽  
P Zeeuwen ◽  
E Jong ◽  
...  

Cephalalgia ◽  
2016 ◽  
Vol 37 (13) ◽  
pp. 1257-1263 ◽  
Author(s):  
Nasim Maleki ◽  
Tobias Kurth ◽  
Alison E Field

Importance Migraine is a highly prevalent and disabling primary headache disorder that is two to three times more prevalent in young women. Among females, there is a steep increase in incidence from puberty to young adulthood, but the mechanisms for the increase are unknown. Objective To determine if age of menarche is a risk factor for developing migraine headache vs. non-migraine headache by young adulthood. Design A prospective cohort study, The Growing Up Today Study (GUTS), of adolescents who have been followed since 1996, when they were nine, to 14 years of age. Headache questions were included on the 2007 and 2010 surveys. Setting Youth from across the United States who are offspring of women participating in the Nurses’ Health Study II. Participants 6112 female participants who had provided data on headache symptoms, age at menarche and family history of migraine and were followed through 2007 or 2010 were included in this analysis. Main outcomes Migraine or non-migraine headache. Results Many females had a history of headaches, with approximately equal numbers reporting symptoms consistent with migraine (29.7%) and non-migraine headaches (25.3%). We found that, independent of age and family history of migraine, each one-year delay in onset of menarche decrease the odds of migraine by 7% (odds ratio (OR) = 0.93, 95% confidence interval (CI) 0.89–0.97), but was not related to non-migraine headaches. Conclusions and relevance The findings of this study suggest that early puberty increases the risk of developing migraines by young adulthood. As such, the study emphasizes the need for understanding the pathophysiological links between puberty and developmental changes that occur in the brain during that period and the mechanisms of onset of the migraine disease and its trajectory.







Author(s):  
Bhautesh Dinesh Jani ◽  
Barbara I. Nicholl ◽  
Peter Hanlon ◽  
Frances S. Mair ◽  
Jason MR. Gill ◽  
...  


2016 ◽  
Vol 58 (4) ◽  
pp. 284-289
Author(s):  
Wei Zheng ◽  
Kohta Suzuki ◽  
Miri Sato ◽  
Hiroshi Yokomichi ◽  
Ryoji Shinohara ◽  
...  


2020 ◽  
Author(s):  
Julia Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  

Abstract Background: Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively.Results: The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality of life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion: This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.



PEDIATRICS ◽  
1996 ◽  
Vol 98 (2) ◽  
pp. 329-329
Author(s):  
James E. Gern

RSV bronchiolitis was the most important risk factor for the development of asthma and allergen-specific IgE, although a family history of atopy or asthma further increased the risk.



Author(s):  
Mehdi Pishgahi ◽  
Mahmoud Yousefifard ◽  
Saeed Safari ◽  
Fatemeh Ghorbanpouryami

Introduction: Being infected with COVID-19 is associated with direct and indirect effects on the cardiopulmonary system and electrocardiography can aid in management of patients through rapid and early identification of these adversities. Objective: The present study was designed aiming to evaluate electrocardiographic changes and their correlation with the outcome of COVID-19 patients. Methods: This Prospective cohort study was carried out on COVID-19 cases admitted to the emergency department of an educational hospital, during late February and March 2020. Electrocardiographic characteristics of patients and their association with in-hospital mortality were investigated. Results: One hundred and nineteen cases with the mean age of 60.52±13.45 (range: 29-89) years were studied (65.5% male). Dysrhythmia was detected in 22 (18.4%) cases. T-wave inversion (28.6%), pulmonale P-wave (19.3%), left axis deviation (19.3%), and ST-segment depression (16.8%) were among the most frequently detected electrocardiographic abnormalities, respectively. Twelve (10.1%) cases died. There was a significant correlation between in-hospital mortality and history of diabetes mellitus (p=0.007), quick SOFA score > 2 (p<0.0001), premature ventricular contraction (PVC) (p=0.003), left axis deviation (LAD) (p=0.039), pulmonale P-wave (p<0.001), biphasic P-wave (p<0.001), inverted T-wave (p=0.002), ST-depression (p=0.027), and atrioventricular (AV) node block (p=0.002). Multivariate cox regression showed that history of diabetes mellitus, and presence of PVC and pulmonale P-wave were independent prognostic factors of mortality. Conclusions: Based on the findings of the present study, 18.4% of COVID-19 patients had presented with some kind of dysrhythmia and in addition to history of diabetes, presence of PVC and pulmonale P-wave were among the independent prognostic factors of mortality in COVID-19 patients.



2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Julia B. Hennermann ◽  
Nathalie Guffon ◽  
Federica Cattaneo ◽  
Ferdinando Ceravolo ◽  
Line Borgwardt ◽  
...  

Abstract Background Alpha-mannosidosis is a lysosomal storage disorder caused by reduced enzymatic activity of alpha-mannosidase. SPARKLE is an alpha-mannosidosis registry intended to obtain long-term safety and effectiveness data on the use of velmanase alfa during routine clinical care in patients with alpha-mannosidosis. It is a post-approval commitment to European marketing authorization for Velmanase alfa (Lamzede®), the first enzyme replacement therapy for the treatment of non-neurologic manifestations in patients with mild to moderate alpha-mannosidosis. In addition, SPARKLE will expand the current understanding of alpha-mannosidosis by collecting data on the clinical manifestations, progression, and natural history of the disease in treated and untreated patients, respectively. Results The SPARKLE registry is designed as a multicenter, multinational, noninterventional, prospective cohort study of patients with alpha-mannosidosis, starting patient enrollment in 2020. Patients will be followed for up to 15 years. Safety and effectiveness as post-authorization outcomes under routine clinical care in patients with treatment will be evaluated. The primary safety outcomes are the rate of adverse events (anti-velmanase alfa-immunoglobulin G antibody development, infusion-related reactions, and hypersensitivity). Secondary safety outcomes include the evaluation of medical events, change in vital signs, laboratory tests, physical examination, and electrocardiogram results. The primary effectiveness outcome is a global treatment response rate, evaluated as the individual aggregate of single endpoints from pharmacodynamic, functional, and quality-of-life effectiveness outcomes; secondary effectiveness outcomes are to characterize the population of patients with alpha-mannosidosis with regard to clinical manifestation, progression, and natural history of the disease. Any patient in the European Union with a diagnosis of alpha-mannosidosis who is willing to participate will likely be eligible for inclusion in the registry. Publications to disseminate scientific insights from the registry are planned. Conclusion This study will provide real-world data on the long-term safety and effectiveness of velmanase alfa in patients with alpha-mannosidosis during routine clinical care and increase the understanding of the natural course, clinical manifestations, and progression of this ultra-rare disease.



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