PURPOSE: Upper limb (UL) function is one of the health outcomes that matters the most for women with breast cancer. However, a better understanding of the factors contributing to UL dysfunctions in the late stage after breast cancer surgery is needed. This study explores associations between impairment-related and cognition-related factors and UL f...
Published in Orphanet Journal of Rare Diseases
BackgroundTuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagnostic criteria and assessed in clinical routine workup. However, case studies point towards the existence of rar...
Published in Plastic and reconstructive surgery
Published in Respirology (Carlton, Vic.)
Yellow nail syndrome (YNS) is a rare and poorly described disease process. In this case-control study, clinical features and findings on HRCT were compared with idiopathic bronchiectasis (IBx). A review of all patients attending an adult bronchiectasis clinic between 2007 and 2013 identified 25 YNS patients. IBx patients were matched in a 2:1 ratio...
Published in Journal of reconstructive microsurgery
The popularity of supermicrosurgery has increased dramatically over the past few years, but the lack of agreement regarding the name of the technique and its applications has caused misunderstandings among microsurgeons when trying to communicate and compare surgical procedures. We report the consensus reached on the name used to refer to supermicr...
Published in The Journal of infectious diseases
Mutations of the FOXL2 gene have been shown to cause blepharophimosis syndrome (BPES), characterized by an eyelid malformation associated with premature ovarian failure or not. Recently, polyalanine expansions and truncating FOXL2 mutations have been shown to lead to protein mislocalization, aggregation and altered transactivation. Here, we study t...
Published in Obesity Surgery
Background: Mild lymphedema of lower limbs and eventually abdomen is not exceedingly rare in morbid obesity. However, few large symptomatic masses have been reported. In a consecutive series of patients, all requiring resection of the lesion before bariatric treatment, clinical features and surgical findings are described, aiming to clarify the nat...
Published in Obesity Surgery
Massive localized lymphedema is a term used to describe a benign overgrowth of lymphoproliferative tissue in morbidly obese patients, which is characterized by fibrotic and edematous fibroadipose tissue. Because of its large size and similar appearance to sarcomas, it has often been termed a pseudosarcoma. Patients tend to seek treatment only when ...
Published in Lancet (London, England)
Published in Northwest medicine
