Vertebral fractures in boys with Duchenne muscular dystrophy.

Osteoporosis causes significant morbidity for boys with Duchenne muscular dystrophy. Corticosteroid therapy given to prolong mobility may increase the rate of osteoporosis and risk of fracture. This study of 33 boys with Duchenne muscular dystrophy determined retrospectively the incidence of vertebral fractures particularly after initiation of corticosteroids. A latency period of 40 months after commencement of steroids occurred before the first vertebral fracture appeared. However, by 100 months of treatment approximately 75% had sustained a vertebral fracture.

Botulinum toxin A as a treatment for excessive drooling in children.

Drooling is problematic for some neurologically impaired children. Botulinum toxin A injection to salivary glands has effectively reduced drooling in adults but has only recently been used to treat children. This was a preliminary study to determine the efficacy and safety of botulinum toxin in children. Children identified as having severe daily drooling were enrolled. The preinjection assessment included measurement of the amount and frequency of drool. Each parotid gland was injected with 5 U of botulinum toxin A. Follow-up was for a minimum of 16 weeks. Nine children were enrolled, 4-17 years of age. All children had moderate or severe mental retardation. At week 4, all patients had a reduced drooling frequency and eight of nine patients had a reduction in the weight of saliva. Overall, five of nine parents (55%) deemed the treatment successful. This preliminary study demonstrates that botulinum toxin A is a relatively effective treatment for some children with significant drooling without serious side effects.

Duchenne muscular dystrophy--parental perceptions.

Quality of life and availability of services are important for boys with Duchenne muscular dystrophy (DMD) and their families. Families attending our neuromuscular clinic completed a questionnaire on parental perception regarding the importance of services, health issues, and quality of life issues both "now" and "in the future." Eighty-nine percent of the families (31/35) completed questionnaires. Services and health issues related to prolonging ambulation were most important, especially for the parents of younger boys. Mental health issues such as social isolation, anger, and depression were very important, particularly for the families of older boys and were anticipated to be more important in the future. Pediatricians should be aware of both the immediate needs of families to meet the physical and emotional challenges of DMD and the increasing requirement to address the social needs of these patients and their families as the boys become older.

Tricuspid valvar endocarditis caused by penicillin resistant pneumococcus.

A 6-year-old boy presented with endocarditis of the tricuspid valve caused by penicillin resistant pneumococcus. He had no history of congenital cardiac disease. The likely portal of entry for the organism was the middle ear.

Pigmented skin lesions in tyrosinase-positive oculocutaneous albinos: a study in black South Africans.

BACKGROUND: The aim of this study was to document the nature, prevalence, and distribution of pigmented skin lesions in tyrosinase-positive oculocutaneous albinism (ty-pos OCA), the most common recessive disorder in South Africa (overall prevalence, 1 in 3900). METHODS: Sixty-one black subjects with ty-pos OCA (mean age, 23 years) and 65 normally pigmented black control subjects (mean age, 29 years) were studied. RESULTS: Pigmented skin lesions not directly related to sun exposure included nevi and pigmented macules on the palms and soles. Melanocytic nevi, mostly on the trunk, were present in 82% of subjects with ty-pos OCA and in 71% of controls. The mean numbers were, however, greater in the ty-pos OCA subjects than in the controls (12 and 7, respectively), being closer to those reported in whites. Palmoplantar pigmentation was present in 75% of the control subjects, but in none of those with ty-pos OCA. The most striking sun-related lesions were dendritic freckles, which were present in 43% of ty-pos OCA subjects, and were characterized by an irregular branched shape, light to dark brown color, and large size (0.5-3.0 cm). Clinically, they resembled solar lentigines, but histologically the rete ridges were often flattened and there was no increase in the number of melanocytes. Solar keratoses occurred less frequently in ty-pos OCA subjects with dendritic freckles (50% vs. 73%), which confirmed the sun-protective role of the increased ability to form pigment. CONCLUSIONS: There were two major conclusions. Firstly pigmented nevi occur much more commonly in ty-pos OCA subjects than was previously thought, being similar in number to those found in white subjects. Secondly, dendritic freckles appear to represent a unique clinical and histologic entity found only on sun-exposed areas in ty-pos OCA subjects.

Lethal epidermolysis bullosa in black South African neonates.

BACKGROUND: While there have been a number of reports of epidermolysis bullosa (EB) occurring in South African black neonates, the disorder occurs rarely and the electron-microscopic findings in affected South African patients have not been documented previously. METHODS: All patients with neonatal EB who were biopsied for electron microscopy at the South African Institute for Medical Research between 1986 and 1992 were included in the study. The eight boys and three girls had extensive blistering and all died within the first few months of life. RESULTS: Nine of the patients showed the features of junctional EB, whereas the remaining two were classified as dystrophic EB. There were no differences in the clinical manifestations between the two categories. CONCLUSIONS: The lethal form of EB in South African black neonates is associated with at least two types of basement membrane defect.

Inhibitory effect of nuts on iron absorption.

The effects on iron absorption of nuts, an important source of dietary protein in many developing countries, were measured in 137 Indian women. When the absorption from bread and nut meals (walnuts, almonds, peanuts, and hazelnuts) was compared with that from bread meals, the overall geometric mean absorption from the nut meals (1.8%) was significantly less than from the bread meals alone (6.6%, t = 9.8, p less than 0.0005). In contrast, coconut did not reduce absorption significantly. All the nuts tested contained significant amounts of two known inhibitors of Fe absorption (phytates and polyphenols) but the amounts in coconut were significantly less than in the other nuts. Fifty milligrams ascorbic acid overcame the inhibitory effects of two nuts that were tested (Brazil nuts and peanuts). This is different from that found previously for soy protein, another potent inhibitor of Fe absorption.

Factors influencing the absorption of iron from soya-bean protein products.

The absorption of iron from soya-bean (Glycine hispida)-based and milk-based infant formulas was assessed in 138 multiparous Indian women, using the erythrocyte utilization of radioactive Fe method. Fe absorption was significantly greater from the basal milk formula (1.5 g protein) than it was from the basal soya-bean formula (2.3 g protein), with geometric mean values of 0.083 and 0.044 respectively. Ascorbic acid markedly increased Fe absorption from the milk-based formula in a dose-dependent fashion. The increase was fivefold when the ascorbic acid:Fe ratio on a weight-for-weight basis was 6:1 and over tenfold when it was 20:1. In contrast, ascorbic acid had a less-marked effect on the absorption of Fe from the soya-bean-based formula, with only a two- to threefold increase at an ascorbic acid:Fe ratio of 20:1. The geometric mean Fe absorption from the soya-bean formula (1.27 mg Fe, 2.3 g isolated soya-bean protein (ISP] was somewhat less than that from the same amounts of ISP and ascorbic acid made up in milk (0.075 and 0.113 respectively). However, a direct comparison between the soya-bean formula in milk and in water showed no significant difference (0.043 and 0.060 respectively). Fe absorption from a drink containing 10 g ISP and 30 mg ascorbic acid was significantly better than that from a similar drink containing the soya-bean flour from which ISP is extracted (0.044 and 0.027 respectively). Heating ISP to 200 degrees for 2 h before its use had no effect on Fe availability.(ABSTRACT TRUNCATED AT 250 WORDS)