Adrenoleucodystrophy
Article Abstract:
Adrenoleukodystrophy (ALD), also called Siemerling-Creutzfeldt disease, is an inherited disorder that damages the adrenal glands, muscles, nerves and brain. It is an X-linked recessive disorder, which means that it occurs in boys who inherit an X chromosome that carries the disease. (Males inherit an X chromosome from their mothers and a Y chromosome from their fathers.) Most girls who have (carry) an affected X chromosome also have a normal X chromosome and, consequently, do not show the characteristic symptoms of the disease. The first symptoms of ALD usually begin between the ages of five and nine years, and include behavioral changes, difficulty in doing school work, a tendency to forget things, and visual problems. In some cases the patient's skin may darken. Problems with language and memory occur, and as the disease progresses, coordination is diminished and episodes of falling occur. The patient may become unable to move about freely (ataxic) and unable to speak clearly. During the final stages of the disease, seizures occur, and within one year, most patients become confined to bed. Within the following two to three years, patients with ALD die from infections or complications caused by seizures. Studies that have tried to determine the cause of ALD have found that patients have an enzyme defect, which allows fatty acids to accumulate in the body. At the present time there is no treatment for ALD. Anticonvulsant drugs have been used to minimize seizures, and specific diets have been tried in attempts to lower the amount of fatty acids in the blood. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Archives of Disease in Childhood
Subject: Health
ISSN: 0003-9888
Year: 1991
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Optic nerve hypoplasia: associations and management
Article Abstract:
The prevalence of optic nerve hypoplasia, underdevelopment of the optic nerve, has increased. Predisposing factors include the ingestion of drugs that prevent convulsions; pregnancy at an early age; maternal use of drugs and alcohol; and the development of skull and brain disorders before birth. Optic nerve hypoplasia has also been associated with various neurological and endocrine disorders. Because of the variety of symptoms associated with optic nerve hypoplasia, it is difficult to design an approach to managing this disorder. The prevalence of neurological and endocrine disorders, the need for imaging of the central nervous system, and the significance of imaging results in children with optic nerve hypoplasia, all remain unclear. Forty patients with optic nerve hypoplasia were divided into three groups: group 1 included 24 patients with severe optic nerve hypoplasia affecting both eyes; in group 2 were 10 patients with mild optic nerve hypoplasia affecting both eye; and the 6 patients in group 3 had optic nerve hypoplasia affecting only one eye. The prevalence of young maternal age and maternal alcohol or drug ingestion was not higher in any of the groups. Hence, screening for optic nerve hypoplasia in children of very young mothers or mothers who use alcohol and drugs may be unnecessary. Children with optic nerve hypoplasia should be carefully assessed for neurological and developmental disabilities. The use of imaging in the evaluation of children with optic nerve hypoplasia is discussed. (Consumer Summary produced by Reliance Medical Information, Inc.)
Publication Name: Archives of Disease in Childhood
Subject: Health
ISSN: 0003-9888
Year: 1990
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Iron will - steel nerve
Article Abstract:
UK training and development consultant ITS was employed by Sheffield-based Forgemasters Steels Ltd in 1988 to analyse its safety requirements. The company's accident frequency rate was 2.93 in 1988 and the level of absenteeism was 5.6%. Forgemasters had no safety policies and employee morale was low. Safety working groups were set up covering areas, such as offices and steel making in the melting shop. ITS helped produce an operational code of practice and a safety directives manual. Forgemasters invested 1 million pounds sterling in fume extraction equipment and provided protective clothing for every employee.
Publication Name: Occupational Safety & Health
Subject: Health
ISSN: 0143-5353
Year: 1992
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