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Copy Number Variation in Asthma: An Integrative Review.
Clin Rev Allergy Immunol
January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFUterus didelphys: the first case report on molecular profiling of endometrial tissue from both uterine cavities.
Reprod Biol Endocrinol
January 2025
Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, Huddinge, Stockholm, 14183, Sweden.
Background: A didelphic uterus represents a unique and infrequent congenital condition in which a woman possesses two distinct uteri, each with its own cervix. This anomaly arises due to partial or incomplete merging of the Müllerian ducts during the developmental stages in the womb. Accounting for uterine malformations, a didelphic uterus is a relatively rare condition, affecting approximately 0.
View Article and Find Full Text PDFFactors related to the progression of chronic obstructive pulmonary disease: a retrospective case-control study.
BMC Pulm Med
January 2025
Department of Geriatrics, Harrison International Peace Hospital, Intersection of Renmin Road, Hongqi Street, Taocheng District, Hengshui City, Hebei Province, 053000, China.
Objectives: To explore the factors related to the progression of chronic obstructive pulmonary disease (COPD).
Methods: 80 COPD patients treated between January 2020 and December 2022. The patients' pulmonary functions at their first hospital admission were categorized into four groups: Grade I, Grade II, Grade III and Grade IV.
Dasatinib-induced colitis in a patient with chronic myeloid leukaemia.
BMJ Case Rep
January 2025
Department of Digestive Health, Gold Coast University Hospital, Gold Coast, Australia, Gold Coast Hospital and Health Service, Southport, Queensland, Australia.
Dasatinib is a common treatment for chronic myeloid leukaemia with numerous side effects including gastrointestinal. We report a woman in her 50s who presented with haematochezia, weight loss and a positive faecal occult blood test. She was being treated for chronic myeloid leukaemia with dasatinib without the use of any concurrent medications, including non-steroidal anti-inflammatory drugs.
View Article and Find Full Text PDFSystemic siliconomas following breast implant rupture.
BMJ Case Rep
January 2025
General Surgery, Universidade de Lisboa Faculdade de Medicina, Lisboa, Portugal.
We report a case of a woman in her late 40s with a history of breast implant surgery following breast cancer treatment. She presented with asymmetrical breast enlargement, palpable contralateral axillary lymph nodes and cutaneous nodules on both forearms. In addition, imaging evaluation revealed intracapsular implant rupture, ipsilateral internal mammary enlarged lymph nodes and multiple mediastinal lymphadenopathies.
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