The clinical and histopathological findings of 8 patients with a diagnosis of Churg-Strauss syndrome seen in our institution in a 10 year period have been reviewed. All patients had asthma and hypereosinophilia (mean eosinophil count 7.64 x 10(9); range: 0.748 x 10(9)-31.46 x 10(9) eosinophils/l). The organs and systems involved in the late phase of the syndrome (vasculitic phase) were: nervous system (16 cases), respiratory system (5 cases), skin and subcutaneous tissue (5 cases), heart (3 cases), digestive system (3 cases) and kidney (1 case). The diagnosis was made on the basis of the clinical and histopathological findings. In 7 cases necrotizing angiitis was shown, tissue eosinophilia in 4, and extravascular granulomas in 2. In most cases, corticosteroid therapy resulted in a favorable course, but cyclophosphamide was required in two patients. In the discussion, the evolution of the criteria for the diagnosis of this condition is analyzed.
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BMC Med Genomics
January 2025
Illumina Cambridge Ltd., Granta Park, Great Abington, Cambridge, UK.
Rearrangements involving the DUX4 gene (DUX4-r) define a subtype of paediatric and adult acute lymphoblastic leukaemia (ALL) with a favourable outcome. Currently, there is no 'standard of care' diagnostic method for their confident identification. Here, we present an open-source software tool designed to detect DUX4-r from short-read, whole-genome sequencing (WGS) data.
View Article and Find Full Text PDFBMC Cancer
January 2025
Department of Medicine, Division of Medical Oncology and Hematology, Princess Margaret Cancer Centre, University Health Network, University of Toronto, Toronto, ON, Canada.
Background: Integrating germline genetic testing (GGT) recommendations from tumor testing into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise and infrastructure. While there have been advancements in standardizing molecular tumor boards, the implementation of tumor profiling for germline-focused assessments has only recently gained momentum. However, this progress remains inconsistent across institutions, largely owing to a lack of systematic approaches for managing these findings.
View Article and Find Full Text PDFBMC Pregnancy Childbirth
January 2025
National Office for Maternal and Child Health Surveillance of China, West China Second University Hospital, Sichuan University, No. 17, Section 3, Renmin South Road, Chengdu, Sichuan, 610041, China.
Background: Hypertensive Disorder during Pregnancy (HDP) is the most prevalent obstetric conditions in maternal health, but the etiology of most cases remains unexplained. Seasonal variations in the conception of HDP may offer insights into the potential seasonal-specific risk factors.
Methods: Data were sourced from the China's National Maternal Near Miss Surveillance System (NMNMSS) between January 1, 2012, and December 31, 2021.
BMC Pregnancy Childbirth
January 2025
Royal Hospital for Women and UNSW, School of Clinical Medicine, Level 0, Royal Hospital for Women, Barker Street (Locked Bag 2000), Sydney, NSW, 2031, Australia.
Background: Congenital heart disease (CHD) is the most common fetal malformation, and it can result first in cardiac remodeling and dysfunction and later in cardiac failure and hydrops. A limited number of studies have evaluated cardiac function in fetuses affected by CHD. Functional parameters could potentially identify fetuses at risk of cardiac failure before its development.
View Article and Find Full Text PDFSci Rep
January 2025
First Department of Medicine, Medical School, University of Pécs, Ifjúság Útja 13, 7624, Pécs, Hungary.
Both acute kidney injury and chronic kidney disease are risk factors for many outcomes of gastrointestinal bleeding (GIB). These are associated with higher mortality, longer hospitalisation, and greater need for transfusion in case of overt GIB. Our study aimed to further evaluate the role of kidney function in several clinical outcomes of GIB patients.
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