Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.

Congenital myopathy with fibre type disproportion (CFTD) has been associated with mutations in ACTA1, SEPN1, RYR1 and TPM3 genes. We report the clinico-pathological and electrophysiological features of 2 unrelated cases with heterozygous TPM3 mutation. Case 1 is a 19-year-old lady who presented with motor delay in infancy, respiratory failure in early teens requiring non-invasive ventilation despite being ambulant, ptosis, axial more than proximal weakness and scoliosis. Case 2 is a 7-year-old boy with hypotonia, feeding difficulties, motor delay and scoliosis, also requiring non-invasive ventilation while ambulant. Muscle biopsies in both cases showed fibre type disproportion. Muscle MRI (Case 1) showed mild uniformly increased interstitial tissue in and around the muscles. Sequencing of TPM3 in case 1 revealed a previously described heterozygous c.503G > A(pArg168His) missense variant in exon 5 and a novel heterozygous missense mutation c.521A > C(pGlu174Ala), also in exon 5, in case 2. A mild abnormality in the single fibre EMG was documented on electrophysiology in both cases. These cases highlight the neuromuscular transmission defect in CFTD secondary to TPM3 mutations.

Myositis and eosinophilia in a patient with sarcoidosis.

We present a patient with muscle manifestations of sarcoidosis associated with raised creatine kinase levels, eosinophilia and interstitial lung disease. She had significant improvement on prednisolone 30 mg per day.

Visual function in hypermetropia. An electroretinographic and psychophysical study.

Dark-adapted retinal function was tested electroretinographically and psychophsysically in patients with severe hypermetropia. These patients were first tested in 1982 and were classified into three electroretinographic categories subnormal, normal and supernormal, according to the amplitudes and the b-wave to a-wave relationships of their dark-adapted electroretinographic responses. These patients were invited for a follow-up examination to examine whether the subnormal electroretinogram represented a stationary or a progressive syndrome, to correlate functional vision to the electroretinographic findings and to determine the changes in refraction and electroretinographic responses that might have occurred during an 8-year period. No significant changes were seen in the amplitudes and b-wave to a-wave relationships of the electroretinographic responses. These observations supported the initial electroretinographic classification of the hypermetropic patients and indicated that the patients belonging to the subnormal group were probably characterized by a stationary defect. The psychophysically determined thresholds at different retinal loci (from 30 degrees nasal to 40 degrees temporal) were within the normal range for all the patients regardless of their electroretinographic characteristics. Thus, the abnormal electroretinographic responses of hypermetropic patients probably did not reflect abnormal retinal function but may be accounted for by changes in the electrical resistances of extraretinal tissues relative to that of the retina itself.

Seasonal variation of cerebrovascular diseases.

The seasonal variation in all admissions of all types of cerebrovascular disease within the West Midlands Region was examined between the years 1973-1980. There was a fluctuation for both sexes with a peak in winter, between the months of October and April; a trough was observed in late summer, in July and August. Multivariate analysis of the meteorological factors showed an association between hours of sunshine and intracerebral haemorrhage. The meterological variables were strongly correlated with each other making the selection of the most predictable variable to stroke difficult.

Evaluation of albendazole, pyrantel, bephenium, pyrantel-praziquantel and pyrantel-bephenium for single-dose mass treatment of necatoriasis.

An effective drug for single-dose mass treatment of necatoriasis was sought by testing three drugs and two drug combinations in Ethiopian immigrants to Israel found to have light infections. The drugs tested sequentially in single-doses were pyrantel pamoate (20 mg kg-1, 81 subjects); bephenium hydroxynaphthoate (2.5-5 g, 65 subjects); combined pyrantel and bephenium (25 subjects); combined pyrantel (20 mg kg-1) and praziquantel (40 mg kg-1) (16 subjects); and albendazole (400 mg, 77 subjects). Follow-up under conditions without likelihood of reinfection was by one stool examination. Cure rates with albendazole, pyrantel-bephenium and pyrantel-praziquantel were 84, 80 and 81% respectively; these rates were significantly higher than the 49% found for bephenium and the 51% for pyrantel (P less than 0.05). Egg reductions in those not cured were pyrantel (22%), bephenium (6%), pyrantel-bephenium (34%), pyrantel-praziquantel (3%) and albendazole (6%). Albendazole was the most promising single drug treatment; unexpected was the high effectiveness of pyrantel-praziquantel in combination.