Cardiac sequelae of acute head injury.

An intensive 72 hour study of the cardiovascular effects of severe diffuse brain injury was made in seven patients. No other major injury was present. Patients received optimal care very rapidly after injury and intracranial pressure, which was continuously monitored, was maintained at or just above normal by elective positive pressure ventilation techniques. Three patients showed evidence of progressive myocardial ischaemia on continuous electrocardiographic monitoring. Two of these patients died. Ventricular arrhythmias were uncommon but one of the patients with ischaemia developed ventricular tachycardia. Heart rate patterns were very abnormal but did not predict complications. Blood pressure did not vary greatly and cardiac outputs were usually normal. Pronounced excesses of urinary catecholamines and serum creatine kinase 2 isoenzyme (CK MB) as well as total creatine kinase were found. Histological evidence of myocardial damage could be shown at necropsy in the one case whose heart was available for study. This study shows that the cardiac effects of isolated diffuse cerebral injury may be harmful and even fatal despite correction of secondary factors such as anoxia and raised intracranial pressure. The findings suggest that evaluation of the potential benefits of sympathetic blockade is warranted. Cardiac complications of cerebral damage deserve wider recognition by intensive care personnel, neurologists, and neurosurgeons.     

In vivo metabolism of the designer anabolic steroid hemapolin in the thoroughbred horse

Hemapolin (2α,3α‐epithio‐17α‐methyl‐5α‐androstan‐17β‐ol) is a designer steroid that is an ingredient in several “dietary” and “nutritional” supplements available online. As an unusual chemical modification to the steroid A‐ring could allow this compound to pass through antidoping screens undetected, the metabolism of hemapolin was investigated by an in vivo equine drug administration study coupled with GC‐MS analysis. Following administration of synthetically prepared hemapolin to a thoroughbred horse, madol (17α‐methyl‐5α‐androst‐2‐en‐17β‐ol), reduced and dihydroxylated madol (17α‐methyl‐5α‐androstane‐2β,3α,17β‐triol), and the isomeric enone metabolites 17β‐hydroxy‐17α‐methyl‐5α‐androst‐3‐en‐2‐one and 17β‐hydroxy‐17α‐methyl‐5α‐androst‐2‐en‐4‐one, were detected and confirmed in equine urine extracts by comparison with a library of synthetically derived reference materials. A number of additional madol derivatives derived from hydroxylation, dihydroxylation, and trihydroxylation were also detected but not fully identified by this approach. A yeast cell‐based androgen receptor bioassay of available reference materials showed that hemapolin and many of the metabolites identified by this study were potent activators of the equine androgen receptor. This study reveals the metabolites resulting from the equine administration of the androgen hemapolin that can be incorporated into routine GC‐MS antidoping screening and confirmation protocols to detect the illicit use of this agent in equine sports.     

Exploring the utility of whole‐exome sequencing as a diagnostic tool in a child with atypical episodic muscle weakness

The advent of whole‐exome next‐generation sequencing (WES) has been pivotal for the molecular characterization of Mendelian disease; however, the clinical applicability of WES has remained relatively unexplored. We describe our exploration of WES as a diagnostic tool in a 3½‐year old female patient with a 2‐year history of episodic muscle weakness and paroxysmal dystonia who presented following a previous extensive but unrevealing diagnostic work‐up. WES was performed on the proband and her two parents. Parental exome data was used to filter potential de novo genomic events in the proband and suspected variants were confirmed using di‐deoxy sequencing. WES revealed a de novo non‐synonymous mutation in exon 21 of the calcium channel gene CACNA1S that has been previously reported in a single patient as a rare cause of atypical hypokalemic periodic paralysis. This was unexpected, as the proband's original differential diagnosis had included hypokalemic periodic paralysis, but clinical and laboratory features were equivocal, and standard clinical molecular testing for hypokalemic periodic paralysis and related disorders was negative. This report highlights the potential diagnostic utility of WES in clinical practice, with implications for the approach to similar diagnostic dilemmas in the future.     

Development of an instrument for the identification of frail older people as a target population for integrated care

Background

Primary care is increasingly interested in the identification of frailty, as it selects the target population for integrated care. However, instruments for the identification of frailty specifically validated for use in primary care are scarce. This study developed the Easycare Two-step Older persons Screening (Easycare-TOS), which provides a valid, efficient, and pragmatic screening procedure to identify frail older people.

Aim

This paper aims to describe the development of the Easycare-TOS and the data from the pilot studies.

Design and setting

Observational pilot study in seven academic GP practices in and around Nijmegen, The Netherlands.

Method

The Easycare-TOS was developed in a cyclic process with the input of stakeholders. In every cycle, the requirements were first defined, then translated into a prototype that was tested in a pilot study. The Easycare-TOS makes optimal use of prior knowledge of the GP, and the professionals’ appraisal is decisive in the frailty decision, instead of a cut-off score. Further, it considers aspects of frailty, as well as aspects of the care context of the patient.

Results

The pilot data have shown that after step 1, two-thirds of the patients do not need further assessment, because they are judged as not frail, based on prior knowledge of the GP. The overall prevalence of frailty in this pilot study is 24%. Most professionals who participated in the pilot studies considered the time investment acceptable and the method to be of added value.

Conclusion

The Easycare-TOS instrument meets the predefined efficiency, flexibility, and acceptability requirements for use as an identification instrument for frailty in primary care.     

Towards a consensus for classification of mandibular condyle fractures

The merits of surgical treatment of fractures of the mandibular condyle versus non-surgical management remains highly controversial, despite a large volume of literature dedicated to this topic. One reason the controversy remains, is because most of the outcomes in the literature are not directly comparable. The disparate range of condylar fracture classifications used is one of the reasons that studies are not comparable. We sought to review classification systems for condylar fractures used in the recent scientific literature.Review of the literature from 2016 to 2019, looking for papers relating to fractures of the mandibular condyle. Papers identified were assessed for type of study, focus of study, classification system used.88 studies were identified, including prospective and retrospective cohort studies, randomised and non-randomised prospective studies, randomised controlled trials and case series. More studies focussed on epidemiological factors than surgical access, fixation or outcomes. 31 used no classification system, whilst 17 used unique classification systems and 40 used previously referenced classification systems.Classification systems are used to help separate clinical problems into distinguishable groups, where there is a difference in management or outcome depending on the distinguishing features.There is currently a wide diversity of classification systems used for condyle fractures, and as a result, comparisons of surgical access, fixation and outcomes are difficult to make. Having a single classification system across the published literature would allow easier comparison and the classification proposed by the AO group is recommended for future use.