Wilson disease: high prevalence in a mountainous area of Crete.

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism. The disorder is caused by mutations in the ATP7B gene, encoding a copper transporting P-type ATPase. The worldwide incidence is in the order of 30 cases per million, with a gene frequency of 0.56% and a carrier frequency of 1 in 90. The increased number of Wilson disease patients in the island of Crete led us to study the spectrum of mutations in a small village close to the city of Heraklion, from where many patients have been referred during the last 25 years. In order to estimate the frequency of the disease, we firstly investigated the number of births and the number of WD patients in the village since 1978. Six out of 90 births were diagnosed as WD patients, presenting the highest prevalence of WD reported so far. Analysis of the whole gene in three Wilson disease patients, and relatives of a boy who died from WD, led to the detection of 4 different point mutations. Two of them were missense (p.I1148T and p.G1176R) and cosegregated in cis in the same patient; the other allele of this patient carried a nonsense mutation (p.Q289X). This is the first report in the literature of three mutations co-segregating in the same WD patient. The fourth mutation identified was a novel frameshift mutation (c.398delT) with documented cosegregation. When screening 200 inhabitants originating from the same area, 18 were found to be carriers of one of these mutations. These findings indicate the need for health education intervention, genetic counselling and newborn screening for the Wilson disease.

The effect of aerobic training in girls with idiopathic scoliosis.

The purpose of the present study was to investigate the effect of aerobic training in girls with idiopathic scoliosis, in selective respiratory parameters (VC, FVC, FEV1, FEV1/VC% FEV1/FVC) as well as the ability to perform aerobic work (PWC170). The training group consisted of 20 young girls with a mean age of 13.5 +/- 0.16 years. They wore a Boston-type brace for a mean period of 0.30 +/- 0.04 years and suffered from a scoliotic curve (27.4 +/- 1.9 degrees). They followed a two-month training program on the cycloergometer. Each training session lasted 30 min and was performed four times a week. The control group consisted of 20 girls with a mean age of 13.6 +/- 0.18 years and they wore the same type of brace for a mean period of 0.24 +/- 0.04 years. They also suffered from a scoliosis (29.5 +/- 1.8 degrees). The results of the study revealed that aerobic training sustained (VC, FEV1, FEV1/VC) or improved significantly (FVC, FEV1/FVC) the parameters of pulmonary function, while the respective parameters (VC, FVC) for the control group were reduced during the two-month period. The ability to perform aerobic work increased 48.1% (P < 0.01) in the training group, while it decreased 9.2% (P < 0.01) in the control group.

Peritalar dislocation: a follow-up report of 21 cases.

A total of 21 patients with peritalar dislocation, treated during the last 15 years in our hospital are reviewed. Of these, 18 had medial and 3 lateral dislocations. At follow-up, 10 patients with medial dislocation experienced either occasional pain due to the limitation of subtalar movements, or chronic pain due to severe osteoporosis of the hindfoot. All these patients with lateral dislocation had severe chronic pain, which was alleviated by subtalar arthrodesis in two of them. It is concluded that peritalar dislocation produces varying degrees of disability in the majority of patients with medial dislocation and serious disability in all patients with lateral dislocation. This is due to the severity of the soft tissue damage and the prolonged immobilization of the foot without bearing weight. It is essential to mobilize the foot as soon as possible after the injury.