M106 17q12 and atopy; missing pieces to the puzzle?

We present a patient with 17q12 deletion syndrome with significant atopy.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Source Type: research

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Authors: Zhao Z, Chang MY, Frerichs I, Zhang JH, Chang HT, Gow CH, Möller K Abstract BACKGROUND: Since bronchial abnormalities often exhibit spatial non-uniformity which may be not correctly assessed by conventional global lung function measures, regional information may help to characterize the disease progress. We hypothesized that regional air trapping during mechanical ventilation could be characterized by regional end-expiratory flow (EEF) derived from electrical impedance tomography (EIT). METHODS: Twenty-five patients suffering from chronic obstructive pulmonary disease (COPD grade 3 or 4) or severe...
Source: Minerva Anestesiologica - Category: Anesthesiology Tags: Minerva Anestesiol Source Type: research
We examined our primary care birth cohort of 158,510 pediatric patients, of whom 214 patients met 2017 FPIES diagnostic criteria. We measured the influence of FPIES on developing subsequent atopic disease.ResultsPediatric FPIES incidence was between 0.17% and 0.42% depending on birth year. As in prior reports, most patients had an acute presentation (78%), and milk, soy, oat, rice, potato, and egg were common triggers. The mean age of diagnosis was 6.8 months. Atopic comorbidity was higher in patients with FPIES compared with healthy children (AD, 20.6% vs 11.7%; IgE-FA, 23.8% vs 4.0%; asthma, 26.6% vs 18.4%; AR, 28.0% vs 16.7%; P
Source: The Journal of Allergy and Clinical Immunology: In Practice - Category: Allergy & Immunology Source Type: research
Nocardiosis is an uncommon infection caused by ubiquitous environmental aerobic gram-positive filamentous bacteria, present in soil and water. Skin and lungs are usually the main targets of localized infections. Rarely, disseminated forms can occur in immunocompromised individuals. A 63-year-old man with a history of late-onset asthma and nasal and sinus polyposis treated with oral low-dose corticosteroid regimen presented with fever, headache, myalgia, skin erythematous plaques, and pustules. Brain MRI revealed multiple abscesses and pachymeningitis. 18F-FDG PET/CT was performed to assess the extent of the infection. Cuta...
Source: Clinical Nuclear Medicine - Category: Nuclear Medicine Tags: Interesting Images Source Type: research
In conclusion, fetal pleural effusion has a close correlation with chromosomal abnormality. CMA may increase the detection rate of chromosomal aberrations, especially for micro-deletion or micro-duplication syndromes. In the South of China, Thalassemia must be considered when a fetal pleural effusion is detected.Impact statementWhat is already known on this subject? The aetiology of fetal pleural effusion includes a chromosomal abnormality, a congenital heart disease, congenital infections and a number of genetic syndromes.What do the results of this study add? This is the first retrospective study to analyse the aetiology...
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
Publication date: 1 January 2020Source: Neuroscience, Volume 424Author(s): Eva-Lotta von Rüden, Christina Zellinger, Julia Gedon, Andreas Walker, Vera Bierling, Cornelia A. Deeg, Stefanie M. Hauck, Heidrun PotschkaAbstractClinical evidence and pathological studies suggest a bidirectional link between temporal lobe epilepsy and Alzheimer’s disease (AD). Data analysis from omic studies offers an excellent opportunity to identify the overlap in molecular alterations between the two pathologies.We have subjected proteomic data sets from a rat model of epileptogenesis to a bioinformatics analysis focused on proteins ...
Source: Neuroscience - Category: Neuroscience Source Type: research
Publication date: Available online 6 December 2019Source: NeuroImageAuthor(s): Oula Puonti, Guilherme B. Saturnino, Kristoffer H. Madsen, Axel ThielscherAbstractComparing electric field simulations from individualized head models against in-vivo intra-cranial recordings is considered the gold standard for direct validation of computational field modeling for transcranial brain stimulation and brain mapping techniques such as electro- and magnetoencephalography. The measurements also help to improve simulation accuracy by pinning down the factors having the largest influence on the simulations. Here we compare field simulat...
Source: NeuroImage - Category: Neuroscience Source Type: research
Authors: Akkoc T Abstract Asthma is one of the worldwide respiratory health problem that affect children and adult. Current treatment strategies such as conventional and allergen immunotherapy still fall behind. Mesenchymal stem cells (MSCs) have wide regenerative capacity and immunoregulatory activity with their wide range of secretions and contact dependent manner. In this review, we focus on the current treatment strategies for asthma and MSCs as a new therapeutic tool. PMID: 31802444 [PubMed - as supplied by publisher]
Source: Advances in Experimental Medicine and Biology - Category: Research Tags: Adv Exp Med Biol Source Type: research
Authors: Pogorzelski J, Fritz EM, Horan MP, Katthagen JC, Hussain ZB, Godin JA, Millett PJ Abstract INTRODUCTION: Despite the widespread use of arthroscopic double-row transosseous-equivalent (TOE) rotator cuff repair (RCR) techniques, midterm outcome data are limited. The purpose of this article was to assess midterm clinical outcomes of patients following arthroscopic TOE RCR using either a knotless tape bridge (TB) repair or knotted suture bridge (SB) repair technique. We hypothesized that there would be significant improvements in patient-reported outcomes with TOE RCR that would be durable over time. We also h...
Source: The Journal of the American Academy of Orthopaedic Surgeons - Category: Orthopaedics Tags: J Am Acad Orthop Surg Source Type: research
Authors: Buckstein RJ Abstract Myelodysplastic syndromes are clonal myeloid neoplasms that primarily present in older adults. Although leukemia develops in approximately 25% to 30% of individuals, the significantly shortened survival in this population is attributed more commonly to nonleukemic causes. The current prognostic scoring systems for leukemia and overall survival based on disease characteristics are becoming increasingly sophisticated and accurate with the incorporation of molecular data. The addition of patient-related factors such as comorbidity, disability, frailty, and fatigue to these new models may...
Source: Hematology ASH Education Program - Category: Hematology Tags: Hematology Am Soc Hematol Educ Program Source Type: research
Conclusion: The BI and mRS showed acceptable validity and reliability to measure the degree of disability in patients with PD in daily activities in both ON and OFF medication phases.
Source: Annals of Physical and Rehabilitation Medicine - Category: Rehabilitation Source Type: research
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