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3 result(s) for "Perlmutter, Noémi"
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Kashin–Beck Osteoarthropathy in Rural Tibet in Relation to Selenium and Iodine Status
Kashin–Beck disease is an osteoarthropathy of uncertain cause that is endemic in Tibet and other areas of China, Siberia, and North Korea — areas where selenium deficiency is also endemic. 1 Affected subjects have varying degrees of joint deformation and limited joint mobility. In the most severe cases, there is necrosis of growth plates and joint cartilage, resulting in decreased limb length and short stature. Osteoarthropathy usually becomes evident between the ages of 5 and 15 years. The disorder is probably of environmental origin. It has been reported in white migrants to the areas of endemic disease, 1 and clinical and radiologic . . .
Maternal diabetes and fetal malformations: a case associating cardiovascular, facial and skeletal malformations
Maternal diabetes is known to be a condition associated with a high frequency of fetal malformations. However, pathogenic factors for these malformations and their possible classification into different entities are not yet well established. We present the case of an infant born to a diabetic mother and affected by several malformations. This report consolidates different hypotheses put forward in recent years.
Reversibility of Severe Hypothyroidism with Supplementary Iodine in Patients with Endemic Cretinism
The reversibility of thyroid dysfunction in children with endemic cretinism treated with supplemental iodine is unknown. To study this question we conducted a five-month follow-up of 51 patients with cretinism (age 14 and below), who were randomly assigned to treatment (0.5 ml of intramuscular iodized oil) and control groups. The geometric mean initial serum level of thyrotropin (223 μU per milliliter; SD, 97 to 513) and the mean (±SD) initial serum level of thyroxine (1.0±1.2 μg per deciliter) indicated that all patients had severe hypothyroidism. Within one month after receiving the iodized oil, 13 of 14 of the younger patients (<4 years) and 1 of 9 of the older patients (4 to 14 years; P<0.001) had thyrotropin values below 20 μU per milliliter. Five months after treatment, the levels of thyrotropin had decreased and those of thyroxine had increased in all children, but greater changes occurred in the 13 younger patients than in the 14 older patients. The mean levels of thyrotropin were 2 μU per milliliter (SD, 0.6 to 6) vs. 38 μU per milliliter (SD, 11 to 132; P<0.001), and the mean (±SD) levels of thyroxine were 13.1±2.8 vs. 8.1±4.6 μg per deciliter (P<0.001). In the untreated group, 3 of the 9 younger patients and none of the 15 older patients recovered normal thyroid function within five months. We conclude that iodine supplementation restored a biochemically euthyroid state in all younger children with cretinism but only some of the older children. In addition, some younger patients became euthyroid without iodine supplementation. (N Engl J Med 1986; 315: 791–5.) Endemic cretinism constitutes the principal public health problem associated with iodine deficiency. 1 , 2 This syndrome has two clinical presentations. 3 Neurologic cretinism is characterized by mental deficiency, spastic diplegia, an ataxic gait, abnormal hearing, and strabismus; it is not necessarily associated with either stunted growth or hypothyroidism. Myxedematous cretinism is characterized by various levels of mental deficiency, stunted growth, and overt hypothyroidism; neurologic signs are discrete or absent. The distribution of the two forms varies substantially according to the endemic area, and mixed forms are also encountered. 1 In Zaire, the myxedematous form accounts for most cases of cretinism. 4 The pathogenesis is poorly . . .