Sorsby fundus dystrophy: Insights from the past and looking to the future

Sorsby fundus dystrophy (SFD), an autosomal dominant, fully penetrant, degenerative disease of the macula, is manifested by symptoms of night blindness or sudden loss of visual acuity, usually in the third to fourth decades of life due to choroidal neovascularization (CNV). SFD is caused by specific mutations in the Tissue Inhibitor of Metalloproteinase-3, (TIMP3) gene. The predominant histo-pathological feature in the eyes of patients with SFD are confluent 20–30 m thick, amorphous deposits found between the basement membrane of the retinal pigment epithelium (RPE) and the inner collagenous layer of Bruch's membrane. SFD is a rare disease but it has generated significant interest because it closely resembles the exudative or “wet” form of the more common age-related macular degeneration (AMD). In addition, in both SFD and AMD donor eyes, sub-retinal deposits have been shown to accumulate TIMP3 protein. Understanding the molecular functions of wild-type and mutant TIMP3 will provide significant insights into the patho-physiology of SFD and perhaps AMD. This review summarizes the current knowledge on TIMP3 and how mutations in TIMP3 cause SFD to provide insights into how we can study this disease going forward. Findings from these studies could have potential therapeutic implications for both SFD and AMD.     

WNT10A variants: following the pattern of inheritance in tooth agenesis and self-reported family history of cancer

Clinical Oral Investigations - The aim of this study was the analysis of WNT10A variants in seven families of probands with various forms of tooth agenesis and self-reported family history of...     

Is low or high body mass index in patients operated for oral squamous cell carcinoma associated with the perioperative complication rate?

The aim of this study was to analyse the effect of body mass index (BMI), both low and high values, on the perioperative complication rate in patients with oral squamous cell carcinoma (OSCC). The medical records of 259 patients operated between 2014 and 2017 for OSCC were reviewed. Univariate and multivariate analyses were performed. Sixty of the 259 patients developed 87 complications. Low or high BMI was not associated with the perioperative complication rate. A longer operating time and increased blood loss were associated with a higher perioperative complication rate and higher Clavien–Dindo grade. Low BMI, American Society of Anesthesiologists score 2 and 3, a longer operating time, and increased blood loss were associated with a longer hospital stay. Low BMI was associated with a longer hospital stay. Neither low nor high BMI was associated with the perioperative complication rate. A longer operating time and increased blood loss were associated with a higher perioperative complication rate and higher Clavien–Dindo grade.