Transverse colon volvulus associated with a vascular and neuronal malformation.
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Biomedical subjects
Publications and source records attributed to P P Franklyn.
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Tuberculosis of the skull vault is very rare and recently has only been reported from Africa. Two cases have presented in the city of Bradford during the past 10 years, both in young Asians. The radiology is discussed.
A preterm baby boy with blood and bone changes of copper deficiency is described. Copper deficiency was suspected after fracture of the left femur during examination of the hip joint. A low serum copper concentration (2.7 mumol/l; 17.2 micrograms/100 ml) and caeruloplasmin (0.04 g/l; 0.004 g/100 ml) confirmed the diagnosis. Despite the introduction of solids at 18 weeks the copper concentration remained low, and treatment with copper sulphate (2.5 mg daily) was started at 6 months. Treatment was stopped at 9 months, when he was both physically and developmentally normal. When given a choline-containing vitamin preparation (Ketovite) he developed a fish odour because of the accumulation of trimethylamine. Withdrawal of this preparation at 6 weeks and substitution with a choline-free preparation (Abidec) was soon followed by disappearance of the odour. It is speculated that prematurity rather than copper deficiency was responsible for the poor activity of liver enzyme, trimethylamine oxidase.
Progeria or 'prematurely old' is an autosomal recessive trait that appears insidiously at or after the age of 6 months. Two affected siblings are reported showing radiologically progressive attenuation of the clavicles and terminal phalanges, widening of cranial sutures and mandibular hypoplasia. Scleroderma was also present. Out of 59 previously published cases five had scleroderma before the age of 2 years. Only three families with affected siblings have been previously recorded.
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