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PubMed1987

Keratitis associated with the multiple endocrine deficiency, autoimmune disease, and candidiasis syndrome.

Optimal management of the ocular and systemic components of the multiple endocrine deficiency, autoimmune disease, candidiasis syndrome requires early identification of affected individuals. This autosomal recessive syndrome is characterized by hypoparathyroidism, Addison's disease, and chronic mucocutaneous candidiasis among other endocrinopathies and immune disorders. We retrospectively reviewed 16 patients, 14 with the full syndrome and two with the syndrome partially manifested. Four of these patients manifested a self-limited, bilateral keratitis in which the age of onset ranged from 2 to 9 years. Keratitis preceded the onset of any endocrinopathy in two of four patients and was among the first signs of the syndrome. The keratitis was not caused by hypoparathyroidism or candidiasis. The anterior stromal vascularization and scarring resulted in a visual acuity of 20/50 or worse in four of eight affected eyes. We recommend medical management of the corneal disease without surgical intervention.

Addison Disease↗
PubMed2002

Meeting the challenges of micronutrient deficiencies in emergency-affected populations.

Micronutrient deficiencies occur frequently in refugee and displaced populations. These deficiency diseases include, in addition to the most common Fe and vitamin A deficiencies, scurvy (vitamin C deficiency), pellagra (niacin and/or tryptophan deficiency) and beriberi (thiamin deficiency), which are not seen frequently in non-emergency-affected populations. The main causes of the outbreaks have been inadequate food rations given to populations dependent on food aid. There is no universal solution to the problem of micronutrient deficiencies, and not all interventions to prevent the deficiency diseases are feasible in every emergency setting. The preferred way of preventing these micronutrient deficiencies would be by securing dietary diversification through the provision of vegetables, fruit and pulses, which may not be a feasible strategy, especially in the initial phase of a relief operation. The one basic emergency strategy has been to include a fortified blended cereal in the ration of all food-aid-dependent populations (United Nations High Commissioner for Refugees/World Food Programme, 1997). In situations where the emergency-affected population has access to markets, recommendations have been to increase the general ration to encourage the sale and/or barter of a portion of the ration in exchange for locally-available fruit and vegetables (World Health Organization, 1999a,b, 2000). Promotion of home gardens as well as promotion of local trading are recommended longer-term options aiming at the self-sufficiency of emergency-affected households. The provision of fortified blended foods in the general ration has successfully prevented and controlled micronutrient deficiencies in various emergency settings. However, the strategy of relying only on fortified blended foods to prevent micronutrient deficiencies should be reviewed in the light of recurring evidence that provision of adequate supplies of these foods is often problematic. Donor policies on the bartering or exchange of food aid should also be clarified. Furthermore, the establishment of micronutrient surveillance systems, including standardized micronutrient deficiency diagnostic criteria, are vital for the control of micronutrient deficiency diseases.

Dietary Supplements↗
PubMed1979

Geochemistry and cardiovascular diseases.

Deficiencies or excesses in the content or availability of trace elements in rocks and soils, or in water flowing through them, is hypothesized as a possible cause of certain chronic diseases, including cardiovascular diseases. Geographic distribution of cardiovascular diseases is often associated with geochemical differences. This trend is particularly evident in the United States and in Europe, with higher rates for cardiovascular mortalities being present in areas uunderlain by soils that are poor in most essential trace elements. Confirmation of this trend is found in connection with the degree of mineralization of local water supplies. Areas that are served by soft waters usually show higher rates of cardiovascular mortality and other forms of cardiovascular pathology, compared with the areas that are served by hard waters. Such a negative association between water hardness and cardiovascular pathology is evident in many countries, both industrialized and developing.

Cardiovascular Diseases↗
PubMed1986

Do indole markers predict carcinoid heart disease?

Deficiency of tryptophan with elevated serum serotonin and liver dysfunction are the prerequisites for the experimental production of cardiac lesions in the guinea pig model of carcinoid syndrome. To apply the above principles in human subjects with carcinoid disease, various indole markers were compared in patients with or without heart involvement, to a group of normal subjects. In the present study, plasma tryptophan (T), serotonin (5HT), and urinary 5 hydroxyindoleacetic acid (5HIAA) measurements were made in 18 (group 1) patients with carcinoid syndrome and 24 normal individuals (group 2). Of the 18 patients, seven (group 1A) had valvular involvement and 11 (group 1B) had none, as determined by clinical, roentgenographic, and echocardiographic (M-mode and 2-D) techniques. Analysis of the above data shows that unlike animal models, there is no difference in serum tryptophan, serum serotonin, and urinary 5 hydroxyindoleacetic acid levels, in patients with carcinoid syndrome with or without cardiac involvement (p greater than 0.05). Furthermore, the data confirm that serum tryptophan, a substrate in carcinoid syndrome, is decreased and in serum serotonin and urinary 5 hydroxyindoleacetic acid, the metabolites are elevated.

Adult↗
PubMed1996

Deliberations and evaluations of the approaches, endpoints and paradigms for selenium and iodine dietary recommendations.

Information is presented regarding the approaches that have been used to establish dietary recommendations for selenium and iodine. In the case of selenium, activity of the selenoenzyme glutathione peroxidase has served as a convenient biochemical endpoint for judging nutritional status. However, there are differences of opinion among various nutritionists as to whether full expression of this enzymatic activity is required for adequate nutriture, thereby resulting in differences in dietary recommendations. Endpoints for assessing selenium overexposure are much less satisfactory, but toxicological standards for selenium have nevertheless been established. Thus far, no nutritionists have attempted to shift the paradigm for determining dietary selenium recommendations away from prevention of deficiency disease to prevention of chronic degenerative disease (e.g., cancer). In the case of iodine, urinary excretion of the element is the most widely used endpoint for judging nutritional status. Numerous epidemiological surveys have been conducted to determine the level of urinary iodine excretion that is consistent with prevention of goiter, the most common endpoint of iodine deficiency. Because dietary iodine is essentially quantitatively excreted in the urine, determination of the latter in goitrous areas will allow an almost direct estimation of those intakes at risk of developing deficiency disease. Iodine toxicity is complicated by the fact that some persons are quite tolerant to the element whereas others are highly sensitive to it. There are relatively complete data sets concerning exposure vs. human health effects for both selenium and iodine so that sounder bases probably exist for their dietary recommendations than for many other trace elements.

Adolescent↗
PubMed1978

Biochemical, genetic and ultrastructural study of a family with the sea-blue histiocyte syndrome/chronic non-neuronopathic Niemann-Pick disease.

Deficient leucocyte sphingomyelinase activity has been demonstrated in a patient with the sea-blue histiocyte syndrome. Family studies revealed that two other cases previously diagnosed on clinical and histochemical criteria also had a pronounced diminution of sphingomyelinase activity. Both parents of the affected individuals were carriers of the disease as indicated by sphingomyelinase activity intermediate between normal and diseased subjects. Additional heteroxygous carriers were found among the siblings and other relatives of the patients. This family study supports further the hypothesis that the sea-blue histiocyte syndrome and chronic Niemann-Pick (Type B) disease are the same.

Adolescent↗
PubMed2003

Zinc deficiency, infectious disease and mortality in the developing world.

Zinc deficiency places children in many low-income countries at increased risk of illness and death from infectious diseases. Randomized controlled trials of zinc supplementation provide the best estimate of this risk through demonstrated preventive benefits. In six of nine trials that evaluated prevention of diarrhea, significantly lower incidence of diarrhea occurred in the zinc group than in the controls; a pooled analysis demonstrated 18% (95% confidence interval, 7-28%) less diarrhea. In five trials, a lower rate of pneumonia infection was found in the zinc-supplemented groups, and there was some indication of a preventive effect in three trials with a clinical malaria outcome. Zinc was also found to have a therapeutic benefit in seven trials of acute diarrhea and five of persistent diarrhea. Studies to evaluate the effect of zinc supplementation on mortality are under way, but a recently published study from India identified a 68% reduction in mortality in small-for-gestational-age term infants that were supplemented with zinc from 1 to 9 mo of age. The important effects of zinc deficiency are now clear, and nutrition programs should address this prevalent problem.

Communicable Disease Control↗
PubMed2000

Creatine therapy in myophosphorylase deficiency (McArdle disease): a placebo-controlled crossover trial.

OBJECTIVE: To determine whether treatment with creatine can improve exercise intolerance in myophosphorylase deficiency (McArdle disease). DESIGN: Double-blind, placebo-controlled crossover study with oral creatine monohydrate supplementation. PATIENTS: Nine patients with biochemically and genetically proven McArdle disease were treated. INTERVENTION: Five days of daily high-dose creatine intake (150 mg/kg body weight) were followed by daily low-dose creatine intake (60 mg/kg). Each treatment phase with creatine or placebo lasted 5 weeks. MAIN OUTCOME MEASURES: The effect of treatment was estimated at the end of each treatment phase by recording clinical scores, ergometer exercise test results, phosphorus 31 nuclear magnetic resonance spectroscopy, and surface electromyography. RESULTS: Of 9 patients, 5 reported improvement of muscle complaints with creatine. Force-time integrals (P =.03) and depletion of phosphocreatine (P =.04) increased significantly during ischemic exercise with creatine. Phosphocreatine depletion also increased significantly during aerobic exercise (P =.006). The decrease of median frequency in surface electromyograms during contraction was significantly larger (P =.03) with creatine. CONCLUSION: This is the first controlled study indicating that creatine supplementation improves skeletal muscle function in McArdle disease.

Administration, Oral↗
PubMed2005

A role for docosahexaenoic acid-derived neuroprotectin D1 in neural cell survival and Alzheimer disease.

Deficiency in docosahexaenoic acid (DHA), a brain-essential omega-3 fatty acid, is associated with cognitive decline. Here we report that, in cytokine-stressed human neural cells, DHA attenuates amyloid-beta (Abeta) secretion, an effect accompanied by the formation of NPD1, a novel, DHA-derived 10,17S-docosatriene. DHA and NPD1 were reduced in Alzheimer disease (AD) hippocampal cornu ammonis region 1, but not in the thalamus or occipital lobes from the same brains. The expression of key enzymes in NPD1 biosynthesis, cytosolic phospholipase A2 and 15-lipoxygenase, was altered in AD hippocampus. NPD1 repressed Abeta42-triggered activation of proinflammatory genes while upregulating the antiapoptotic genes encoding Bcl-2, Bcl-xl, and Bfl-1(A1). Soluble amyloid precursor protein-alpha stimulated NPD1 biosynthesis from DHA. These results indicate that NPD1 promotes brain cell survival via the induction of antiapoptotic and neuroprotective gene-expression programs that suppress Abeta42-induced neurotoxicity.

Alzheimer Disease↗
PubMed2001

Lack of evidence of a specific role for C4A gene deficiency in determining disease susceptibility among C4-deficient patients with systemic lupus erythematosus (SLE).

The aim of the present study was to investigate the prevalence of C4 and C2 deficiencies and to characterize genomic alterations in C4 genes in a large cohort of 125 unselected patients with SLE. We determined the protein concentration and functional activity of C2 and C4, as well as the C4 phenotype. C4 genotyping included Taq 1 restricted fragment lengh polymorphism (RFLP) analysis and polymerase chain reaction using sequence-specific primers (SSP-PCR). Type I C2 deficiency was diagnosed by PCR. Overall, 79.2% of the patients exhibited abnormalities of the C4 genes including deletion, non-expression, gene conversion and duplication. Among C4-deficient patients (n = 66, 52.8% prevalence), 41.0% of the patients exhibited a C4A deficiency and 59.0% a C4B deficiency. Half of the C4 deficiencies were due to a gene deletion. There was a strong association between C4A and C4B gene deletion and the presence of the DRB1*03 allele. Among the silent C4A genes, only two cases were related to a 2-bp insertion in exon 29 of the C4A gene. A gene conversion was demonstrated in eight patients (6.4%). One patient had a homozygous C4A deficiency. Three (2.4%) patients presented with a heterozygous type I C2 deficiency and none with homozygous deficiency. Our results argue against a specific role for C4A gene deficiency in determining disease susceptibility among patients with SLE that are C4-deficient.

Adolescent↗
PubMedDate not supplied

O6-methylguanine-DNA methyltransferase in lymphocytes of the elderly with and without Alzheimer's disease.

Deficiency in DNA repair has been linked to aging, mutagenesis, carcinogenesis and several types of primary neuronal degeneration. O6-Methylguanine-DNA methyltransferase is a key enzyme in the repair of DNA alkylation damage that removes a methyl group from the O6 position of methylguanine. This study was carried out to determine whether there were any changes in the activity of this enzyme in lymphocytes of patients with Alzheimer's disease (AD) as compared to lymphocytes of age-matched non-demented elderly. The transferase activity in lymphocytes from 19 elderly patients with AD (mean 87.7 fmole/100 micrograms protein +/- SD 44.7) was not statistically different from that in 19 age/sex-matched controls (mean 91.3 fmole/100 micrograms protein +/- SD 40.0). There was no significant trend with age in transferase activity and the activity levels in the elderly subjects studied were the same as those reported previously for younger individuals by this laboratory. It is concluded that a reduction in O6-methylguanine-DNA methyltransferase activity is unlikely to be involved in the etiology or the pathogenesis of AD.

Age Factors↗