An Observational Analysis of a Novel Digital Rectoscope.

BACKGROUND: This is an analysis of the first 50 in-human uses of a novel digital rigid sigmoidoscope. The technology provides digital image capture, telemedicine capabilities, improved ergonomics, and the ability to biopsy under pneumorectum while maintaining the low cost of conventional rigid sigmoidoscopy. The primary outcome was adverse events, and the secondary outcome was diagnostic view. PRELIMINARY RESULTS: Fifty patients underwent outpatient (n = 25) and surgical rectal assessment (n = 25), with a mean age of 60 years. This included 31 men and 19 women with 12 different clinical use indications. No adverse events were reported, and no defects were reported with the instrumentation. Satisfactory diagnoses were obtained in 48 (96%) of 50 uses, images were captured in 48 (96%) of 50 uses, and biopsies were successfully taken in 13 uses (26%). No adverse events were recorded. Independent reviewers of recorded videos agreed on the quality and diagnostic value of the images with a κ of 0.225 (95% CI, 0.144-0.305) when assessing whether the target pathology was adequately visualized. IMPACT OF INNOVATION: The improved views afforded by digital rectoscopy facilitated a satisfactory clinical diagnosis in 96% of uses. The device was successfully deployed in the operating room and outpatients irrespective of bowel preparation method, where it has the potential to replace flexible sigmoidoscopy for specific use cases. The technology provides a high-quality image and video that can be securely recorded for documentation and medicolegal purposes with agreement between blinded users despite a lack of standardized training and heterogenous pathology. We perceive significant impact of this technology for the assessment of colorectal anastomoses, the office management of colitis, "watch and wait," and for diagnostic support in rectal cancer diagnosis. The technology has significant potential to facilitate proctoring and training, and it now requires prospective trials to validate its diagnostic accuracy against more costly flexible sigmoidoscopy systems.

A charcot-marie-tooth type 1B kindred associated with hemifacial spasm and trigeminal neuralgia.

INTRODUCTION: Charcot-Marie-Tooth (CMT) phenotypes can be distinguished by electrophysiology and genetic analysis but few can be identified by their clinical characteristics. Distinctive phenotypes are useful in identifying affected individuals and providing additional clues about the mechanism of the neuropathy. Cranial neuropathies are uncommon features of CMT, and few reports of familial hemifacial spasm (HFS) and trigeminal neuralgia (TN) have been published. METHODS: Sixty-three members of a large CMT 1B kindred were assessed for signs of peripheral neuropathy and cranial neuropathies then tested for the G163R mutation in the myelin protein zero (MPZ) gene. RESULTS: Of 27 individuals with the G163R mutation in MPZ, 10 had HFS or TN. Co-existing HFS and TN were found in 3 of these and 4 had bilateral HFS or TN. CONCLUSIONS: This kindred exhibits a distinct CMT phenotype characterized by the development of HFS or TN decades after clinical signs of hereditary neuropathy are manifest. Muscle Nerve, 2019.

Pilot study assessing functional outcome of tibial pilon fractures using the VSTORM method.

INTRODUCTION: The importance of long-term function and quality of life after trauma is well recognised, but gathering data is difficult. The Victoria State Trauma Registry (VSTORM) collects patient-reported outcome data after major trauma using telephone interview, following prospective enrolment. Key components of the VSTORM interview include use of the Glasgow Outcome Scale-Extended (GOS-E), collection of pre-injury demographics, use of 12-Item Short Form Health Survey (SF-12) and EQ-5D instruments as well as a pain numerical rating scale. The aim of this pilot study was to determine whether this methodology would capture clinically relevant data for a population sustaining a severe fracture associated with a wide range of potential outcomes. METHODS: Following ethical approval, patients with surgically managed tibial pilon fractures sustained between March 2002 and January 2010 were identified from the logbook of the senior author (IP) and contacted by post. After obtaining consent, a structured telephone interview was performed using the VSTORM questionnaire. RESULTS: Twenty-six of 45 patients consented to interview and 23/26 patients were contactable (13 male, 10 female, mean age 44 years). There were 17 Arbeitsgemeinschaft für Osteosynthesefragen (AO) Type C fractures, six Type B and seven Grade III open injuries. The mean visual analogue scale (VAS) score for health pre-injury was 88.9 (range 50-100, median 92) versus 71.5 (range 35-100, median 75) post-injury. Seven of 18 patients in full-time employment prior to injury did not return to work. Only one patient returned to previous employment. Nine of 23 patients reported moderate - to-extreme pain interfering with work; 16/23 patients had problems with mobility; 9/23 reported problems climbing stairs; and 14/23 of patients could not resume regular social/leisure activities. CONCLUSIONS: Prospective enrolment at the time of injury may improve follow-up. In those who participated, a credible range of outcomes were reported, comparable to recently published studies. This method appears efficient and acceptable to patients, and hence warrants larger-scale prospective evaluation.

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

Allan-Herndon-Dudley syndrome was among the first of the X-linked mental retardation syndromes to be described (in 1944) and among the first to be regionally mapped on the X chromosome (in 1990). Six large families with the syndrome have been identified, and linkage studies have placed the gene locus in Xq13.2. Mutations in the monocarboxylate transporter 8 gene (MCT8) have been found in each of the six families. One essential function of the protein encoded by this gene appears to be the transport of triiodothyronine into neurons. Abnormal transporter function is reflected in elevated free triiodothyronine and lowered free thyroxine levels in the blood. Infancy and childhood in the Allan-Herndon-Dudley syndrome are marked by hypotonia, weakness, reduced muscle mass, and delay of developmental milestones. Facial manifestations are not distinctive, but the face tends to be elongated with bifrontal narrowing, and the ears are often simply formed or cupped. Some patients have myopathic facies. Generalized weakness is manifested by excessive drooling, forward positioning of the head and neck, failure to ambulate independently, or ataxia in those who do ambulate. Speech is dysarthric or absent altogether. Hypotonia gives way in adult life to spasticity. The hands exhibit dystonic and athetoid posturing and fisting. Cognitive development is severely impaired. No major malformations occur, intrauterine growth is not impaired, and head circumference and genital development are usually normal. Behavior tends to be passive, with little evidence of aggressive or disruptive behavior. Although clinical signs of thyroid dysfunction are usually absent in affected males, the disturbances in blood levels of thyroid hormones suggest the possibility of systematic detection through screening of high-risk populations.

The Caenorhabditis elegans unc-63 gene encodes a levamisole-sensitive nicotinic acetylcholine receptor alpha subunit.

The anthelmintic drug levamisole causes hypercontraction of body wall muscles and lethality in nematode worms. In the nematode Caenorhabditis elegans, a genetic screen for levamisole resistance has identified 12 genes, three of which (unc-38, unc-29, and lev-1) encode nicotinic acetylcholine receptor (nAChR) subunits. Here we describe the molecular and functional characterization of another levamisole-resistant gene, unc-63, encoding a nAChR alpha subunit with a predicted amino acid sequence most similar to that of UNC-38. Like UNC-38 and UNC-29, UNC-63 is expressed in body wall muscles. In addition, UNC-63 is expressed in vulval muscles and neurons. We also show that LEV-1 is expressed in body wall muscle, thus overlapping the cellular localization of UNC-63, UNC-38, and UNC-29 and suggesting possible association in vivo. This is supported by electrophysiological studies on body wall muscle, which demonstrate that a levamisole-sensitive nAChR present at the C. elegans neuromuscular junction requires both UNC-63 and LEV-1 subunits. Thus, at least four subunits, two alpha types (UNC-38 and UNC-63) and two non-alpha types (UNC-29 and LEV-1), can contribute to levamisole-sensitive muscle nAChRs in nematodes.