A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome.

Boucher-Neuhäuser syndrome (BNHS) is characterized by chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar dysfunction and atrophy. The disorder has been associated with biallelic pathogenic variants in the patatin-like phospholipase domain-containing protein 6 (PNPLA6) gene. We present an individual with a clinical diagnosis consistent with BNHS who lacked any PNPLA6 variants but on quartet family exome sequencing had a de novo variant in the hexokinase 1 (HK1) gene (NM_000188.

Chronic exogenous exophiala dermatitidis endophthalmitis.

Purpose: To describe a case of chronic exogenous Exophiala dermatitidis endophthalmitis.

Methods: Retrospective chart review and case report.

Results: A 60-year-old man with history of chronic herpes zoster keratitis complicated by secondary fungal keratitis treated with penetrating keratoplasty presented with a white cataract, chronic anterior uveitis, and counting fingers vision in the left eye.

Myogenic constriction and dilation of isolated lymphatic vessels.

We tested the hypothesis that lymphatics would exhibit myogenic constrictions and dilations to intraluminal pressure changes. Collecting lymphatic vessels were isolated from rat mesentery, cannulated, and pressurized for in vitro study. The lymphatic diameter responses to controlled intraluminal pressure steps of different magnitudes were tested in the absence and presence of the inflammatory mediator substance P, which is known to enhance lymphatic contractility.

Rate-sensitive contractile responses of lymphatic vessels to circumferential stretch.

Phasic contractile activity in rat portal vein is more sensitive to the rate of change in length than to absolute length and this response is widely assumed to be a general characteristic of myogenic behaviour for vascular smooth muscle. Previously, we found that rat lymphatic vessels exhibit phasic contractile behaviour similar to that of portal vein. In the present study, we hypothesized that lymphatic muscle would exhibit rate-sensitive contractile responses to stretch.