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Biomedical subjects

A J Larner

Publications and source records attributed to A J Larner.

At least 55 records · Page 3Linked to original sources

The place of the ice pack test in the diagnosis of myasthenia gravis.

In the evaluation of ptosis, the ice pack test is a simple, quick, bedside method to ascertain whether it is of myasthenic origin, which requires no specialised medication or equipment and is free of reported adverse effects. Pooling of published studies suggests very high sensitivity, specificity and likelihood ratios, but standardisation and operationalisation of the test are important. False-negative tests may occasionally occur.

Adult↗

Pathological heterogeneity of clinically diagnosed corticobasal degeneration.

Two patients fulfilling suggested clinical diagnostic criteria for corticobasal degeneration (CBD) are presented, who were found at postmortem to have alternative pathological diagnoses not suspected during life, namely, Alzheimer's disease and Pick's disease, respectively. The nosological position of these cases is considered in light of a literature review of previous reports of clinically diagnosed corticobasal degeneration with atypical (not corticobasal degeneration) pathology. Since such phenocopies may be common, we suggest that all clinically diagnosed cases of corticobasal degeneration should initially be labelled as "corticobasal degeneration syndrome" (CBDS) to emphasize that this is a diagnosis based on clinical phenotype, with the term corticobasal degeneration being reserved for the specific neuropathological phenotype, which itself may have a variety of clinical presentations.

Alzheimer Disease↗

Use of the internet and of the NHS direct telephone helpline for medical information by a cognitive function clinic population.

BACKGROUND: Internet websites and medical telephone helplines are relatively new and huge resources of medical information ("cybermedicine" and "telemedicine", respectively) accessible to the general public without prior recourse to a doctor. STUDY OBJECTIVES: To measure use of internet websites and of the NHS Direct telephone helpline as sources of medical information by patients and their families and/or carers attending a cognitive function clinic. DESIGN AND SETTING: Consecutive patients seen by one consultant neurologist over a six-month period in the Cognitive Function Clinic at the Walton Centre for Neurology and Neurosurgery, a regional neuroscience centre in Liverpool, UK. RESULTS: More than 50% of patients and families/carers had internet access; 27% had accessed relevant information, but none volunteered this. 82% expressed interest in, or willingness to access, websites with relevant medical information if these were suggested by the clinic doctor. Although 61% had heard of the NHS Direct telephone helpline, only 10% of all patients had used this service and few calls related to the reason for attendance at the Cognitive Function Clinic. CONCLUSIONS: Internet access and use is common in a cognitive function clinic population. Since information from internet websites may shape health beliefs and expectations of patients and families/carers, appropriately or inappropriately, it may be important for the clinic doctor to inquire about these searches. Since most would use websites suggested by the doctor, a readiness to provide addresses for appropriate sites may prove helpful.

Adult↗

Early-onset Alzheimer's disease with presenilin-1 M139V mutation: clinical, neuropsychological and neuropathological study.

The clinical, neuropsychological and neuropathological features of a patient with early-onset Alzheimer's disease as a result of the M139V presenilin-1 (PSEN-1) mutation are presented, and compared with previous reports of patients with the same mutation. Similarities, such as the age at onset and the relative preservation of naming skills, and differences, such as the significant basal ganglia, thalamic and cerebellar pathology, are noted. This clinical and pathological heterogeneity in patients with the same PSEN-1 mutation suggests phenotype modulation by genetic and/or epigenetic factors.

Alzheimer Disease↗

False localising signs.

Neurological signs have been described as "false localising" if they reflect dysfunction distant or remote from the expected anatomical locus of pathology, hence challenging the traditional clinicoanatomical correlation paradigm on which neurological examination is based. False localising signs occur in two major contexts: as a consequence of raised intracranial pressure, and with spinal cord lesions. Cranial nerve palsies (especially sixth nerve palsy), hemiparesis, sensory features (such as truncal sensory levels), and muscle atrophy, may all occur as false localising signs. Awareness that signs may be false localising has implications for diagnostic investigation.

Diagnosis, Differential↗

Obstructive sleep apnoea syndrome presenting in a neurology outpatient clinic.

The various neurological guises in which obstructive sleep apnoea syndrome (OSAS) may present are illustrated by reporting four previously undiagnosed patients seen by one consultant neurologist in general neurological outpatient clinics. Presenting features were episodes of loss of consciousness (2), stroke, and excessive daytime somnolence; morning headache and cognitive decline were also observed. Two patients had been involved in road traffic accidents. Diagnoses suggested by the referring doctors included epilepsy, stroke and narcolepsy. Since OSAS is associated with increased morbidity and mortality, yet is frequently amenable to treatment, neurologists should be familiar with the heterogeneous presentations of this condition.

Adult↗

Acute disseminated encephalomyelitis: a riddle wrapped in a mystery inside an enigma.

The difficulties in establishing a diagnosis of acute disseminated encephalomyelitis (ADEM) are illustrated in this case report, which attempts to raise awareness of the condition among general physicians, since they are the practitioners most likely to see such acute neurological presentations. Clinical and investigative features which raise the index of suspicion for the diagnosis of ADEM are outlined.

Acute Disease↗