37 天前 - … Diagnostic variants were defined as those classified as ‘pathogenic’ or ‘likely
pathogenic’. Potential clinical utility of genetic findings were studied case-by-case based on the …

66 天前 - … the clinical picture. Understanding the pathogenesis, clinical presentation, and
diagnostic approach to scleroderma is imperative for effective management and therapeutic …

81 天前 - … , pathogenesis, diagnosis, and clinical features of LAM during pregnancy and
highlight the treatment strategies. We aimed to explore the characteristics of LAM during …

134 天前 - … 1 a), confirming the diagnosis of HIGM-3. These CD40 variants were not previously
known as pathogenic, and it was unclear if both were affected or if only one acted in a …

136 天前 - Background Pancreatic cancer (PC) is the 11th most prevalent cancer in Canada
with about 6900 new cases in 2021. Due to late diagnosis, it is the 4th largest cause of cancer …

273 天前 - … Histopathology did not reveal the presence of lymphangioleiomyomatosis (LAM)
cells (… identified a pathogenic variant in the FLCN gene, which confirmed a diagnosis of Birt-…

273 天前 - … INTRODUCTION: Lymphangioleiomyomatosis (LAM) is a … initial clinical feature of
LAM subsequently diagnosed by … abnormalities, the diagnosis of LAM should remain in the …

277 天前 - … Diagnostic assessment of MPN involved correlation between clinical features, bone
marrow morphologic feature, and genomic information. Chronic myeloid leukemia with BCR…

297 天前 - … ] Clinicians should establish a diagnosis based on the appropriate clinical presentation
… cystic lung diseases, such as lymphangioleiomyomatosis (LAM), lymphocyte interstitial …

312 天前 - … questions, which were categorised into six domains—pathogenesis, risk factors,
clinical presentation, diagnosis, treatment and prevention, and prognosis. Each question was …