Charcot-Marie-Tooth 1A: A narrative review with clinical and anatomical perspectives.

Charcot-Marie-Tooth 1A (CMT1A) is regarded as the most common hereditary peripheral neurodegenerative disorder. This narrative review highlights perspectives around the historically well-established and characteristic anatomical manifestations of CMT1A seen in the feet, legs and hands, in addition to a clinical diagnosis that may be confirmed by electrophysiology, genetic or molecular markers together with the presence of a typical family history. A less well-known perspective is the potential for systemic manifestations and wider complication. The condition is characterised by a progressive clinical picture with unmistakable anatomical and neurological features that have been described since the late 19th century. There remains no cure although supportive, rehabilitative, and surgical regimes may provide helpful management or amelioration of symptoms. Most recently, the emergence of a pleotherapeutic approach suggests distinct promise. Future research focused on a detailed elucidation of the underlying molecular mechanisms underpinning myelin and axonal function may eventually hold the key to successful treatment of CMT1A. Genetic modification would potentially present a cure. Clin. Anat. 29:547-554, 2016. © 2015 Wiley Periodicals, Inc.

Felinine stability in the presence of selected urine compounds.

The stability of felinine, an amino acid present in feline urine, was investigated. Synthetic felinine was unstable in the urine of a selection of mammals. Felinine was found to stable in feline urine in which urea had been degraded. Synthetic felinine was found to react specifically with urea and did not react with urea analogues such as biuret or thiourea or other nucleophilic compounds such as ammonia which is more nucleophilic or acetamide and water which are less nucleophilic than urea. The reaction of urea and felinine was independent of pH over the range of 3-10. Urea did not react with N-acetyl-felinine suggesting a felinine N-terminal interaction with urea. Mass spectral analysis of the reaction products showed the presence of carbamylated felinine and fragmentation ions derived from carbamyl-felinine. The physiological relevance of felinine carbamylation is yet to be determined.

Lateral branches of dorsal sacral nerve plexus and the long posterior sacroiliac ligament.

Non-specific low back pain and peripartum pelvic pain have aetiologies that may feature the sacroiliac region. This region possesses many potential pain-generating structures sharing common sensory innervation which makes clinical differentiation of pathoanatomy difficult. This anatomical study explores the relationship between the long posterior sacroiliac ligament (LPSL) and the lateral branches of the dorsal sacral nerve plexus. Twenty-five sides of the pelvis from 16 cadavers were studied, three for histological analysis and 22 for gross anatomical dissection. We found that the LPSL is penetrated by the lateral branches of the dorsal sacral rami of predominantly S2 (96%, 21/22) and S3 (100%, 22/22), variably of S4 (59%, 13/22) and rarely of S1 (4%, 1/22). Some of the penetrating lateral branches give off nerve fibres that disappear within the ligament. These findings provide an anatomical basis for the notion that the LPSL is a potential pain generator in the posterior sacroiliac region.

Plasma and tissue concentrations of alpha-tocopherol during vitamin E depletion in sheep.

To determine the relationship between plasma and tissue alpha-tocopherol concentrations during vitamin E depletion, weaned lambs were placed on a vitamin E-deficient diet for 0, 1, 2, 4, 8 and 12 weeks. alpha-Tocopherol was measured in plasma, erythrocytes, liver, adrenal, adipose tissue, three different skeletal muscles and heart muscle. The alpha-tocopherol concentration in plasma fell at the same rate as the alpha-tocopherol concentration in skeletal muscles, heart muscle, adrenal and adipose tissue. The alpha-tocopherol concentration in liver and erythrocytes fell at a faster rate than that of plasma and all muscle tissues. There were significant correlations between alpha-tocopherol concentration in plasma and alpha-tocopherol concentrations in all the tissues measured. Different skeletal muscles had significantly different concentrations of alpha-tocopherol which may relate to their differing susceptibility to nutritional myopathy. The increase in malondialdehyde in oxidatively-stressed muscle tissue and the correlation with alpha-tocopherol concentration in most muscle tissues indicated that the muscles had reduced antioxidant capacity in vitro as a result of vitamin E depletion. It was concluded that during vitamin E depletion in sheep alpha-tocopherol concentration in plasma was a good index of vitamin E status under the experimental conditions employed.

Role of adrenaline and cyclic AMP in appearance of tyrosine aminotransferase in perinatal rat liver.

1. Adrenaline increased hepatic tyrosine aminotransferase activity when injected into foetal rats or 2-day-old rats. 2. The inhibition of the postnatal increase in tyrosine aminotransferase activity which occurred in adrenalectomized newborn rats rapidly overcome by injection of adrenaline or dibutyryl cyclic AMP. 3. The effects of adrenaline or dibutyryl cyclic AMP on the tyrosine aminotransferase activity in foetal, adrenalectomized newborn and 2-day-old rats could be partially or completely blocked by prior treatment with actinomycin D. 4. Dibutyryl cyclic AMP induced tyrosine aminotransferase activity in hepatocytes cultured from 15-day foetal rats in glucocorticoid-free medium. 5. Actinomycin D at 0.2 microgram/ml in the culture medium completely prevented the induction of tyrosine aminotransferase activity by dibutyryl cyclic AMP in cultured cells. 6. The results suggest that adrenaline and cyclic AMP stimulate a transcriptional event during induction of tyrosine aminotransferase in perinatal liver.