Iron deficiency and educational deficiency

Existing data suggest that iron deficiency anemia (IDA) is a risk factor for poor educational performance in schoolchildren. The synergistic effect of IDA in combination with other forms of malnutrition and other risk factors may affect educational performance more strongly. Thus, IDA and its effect on educational performance should be studied in the context of other risk factors.     

Vitamin deficiency and marginal vitamin deficiency

Fat-soluble vitamin deficiency and marginal deficiency of this type of vitamin will be discussed. The trias of vitamin A deficiency is composed of nyctalopia, xerophthalmia and hyperkeratosis follicularis. Vitamin D deficiency causes rachitis and osteomalacia. In Japan, vitamin D deficiency is more often caused by impaired vitamin D activation due to renal failure, than by a lack of sunbathing or insufficient ingestion of vitamin D from diet. At present, it is quite rare that the physician encounters patients with deficiency of vitamin E or other vitamins. According to surveys of occult vitamin deficiency, the prevalence of marginal fat-soluble vitamin deficiency was lower than that of marginal water-soluble vitamin deficiency. Marginal vitamin deficiency seems to be absent or very rare among healthy individuals. In patients, however, marginal vitamin deficiency is sometimes observed. Since marginal vitamin deficiency can modify the underlying disease or trigger complications, the physician should take adequate measures to prevent the onset of marginal vitamin deficiency in managing patients with various diseases.     

When you see rickets, consider calcium deficiency

Systemic chemotherapy ensures better quality of life than supportive treatment alone in incurable patients. Mean survival for the total group of patients with gastric, pancreatic and colorectal cancer can be extended only by months, however, this does not preclude that in individual cases survival time may reach years. The future of tumor therapy consists in sooner treatment of early stages and improved adjuvant therapeutic methods.     

ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency

Familial glucocorticoid deficiency (FGD) is an autosomal recessive syndrome with hereditary adrenocortical unresponsiveness to ACTH. After the cloning of ACTH receptor or melanocortin-2 receptor (MC-2R) cDNA, several kinds of mutations in the receptor genes have been reported. However, the apparently normal ACTH receptor gene in some affected children suggests that the etiology of FGD is heterogeneous. In this short review, we describe the recent advances in the molecular biology of ACTH receptor genes, its post-receptor signal transduction in the adrenocortical cells, and the molecular genetics of the FGD and a related syndrome, Allgrove syndrome. We also discuss that this kind of work will help us to understand better about the molecular mechanism of the glucocorticoidogenesis in the human being.     

Thyroid function in rats with iodine deficiency is not further impaired by concurrent, marginal zinc deficiency

The hypothesis tested was that Zn deficiency aggravates impaired thyroid function as induced by I deficiency. In two separate experiments male rats were fed on diets either deficient in Zn or in I, or deficient in both. An identical, restricted amount of food was given to each rat so that body-weight gain of the experimental groups was comparable. Zn deficiency was evidenced by reduced tibial Zn concentrations. I deficiency was evidenced by goitre, reduced urinary I excretion, reduced plasma thyroxine concentrations and reduced absolute amounts and concentrations of thyroxine in the thyroid. Zn deficiency had no effect on the raised thyroid weight as induced by I deficiency. Zn restriction from 184 mumol Zn/kg diet to 31 mumol Zn/kg diet, but not to 92 mumol Zn/kg diet, significantly lowered plasma thyroxine concentration. There were no interrelated effects of Zn and I deficiencies on thyroid hormone levels. These results indicate that marginal Zn deficiency does not influence thyroid hormone metabolism in I deficiency.     

Aspects of 5-alpha reductase deficiency, a review

Two forms of 5 alpha-reductase deficiency have been described and two genes have been cloned. In view of the psychoendocrinological complexity of the primary form, the early diagnosis preferably in infancy, is crucial. Rearing up those who are assigned as females to the male gender identity could minimize the risk of gender identity and role disorders when puberty is reached.     

Spondyloepiphyseal dysplasia, corneal clouding, normal intelligence and acid beta-galactosidase deficiency

The presence of fat in the fetal zone of the adrenal cortex in the stillborn macerated fetus is indicative of the mode of intrauterine death. Three basic patterns are recognized. In the type I pattern there is only a scant amount of fat, close to the medullary zone. In the type II pattern fat is more widespread and is present in many more cells of the fetal zone. The type III pattern reflects a massive fatty change of almost all cells throughout the fetal cortical zone. Correlation of the three fat patterns with the pathology of the placenta and clinical data relevant to the etiology of intrauterine death has led to the following conclusions. The type I fat pattern is indicative of an acute mode of death, the type II pattern is indicative of a more prolonged period of intrauterine deterioration prior to death, whereas the type III pattern is indicative of a chronic mode of death. Determination of the fat patterns in the fetal zone of the adrenal cortex can be helpful when the clinician is confronted with the problem of fetal death, especially when maceration may hamper more detailed pathologic studies.     

Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiency

The authors report a child with a spinal muscular atrophy (SMA)-like picture, cardiomyopathy, and cytochrome c oxidase (COX) deficiency. Electromyography and muscle biopsy showed findings typical of SMA. However, COX staining of the muscle was negative. DNA analysis did not detect deletions in the survival motor neuron (SMN) gene. The lactate and lactate-to-pyruvate ratios were increased in blood and CSF. COX activity was decreased in muscle and fibroblasts. Western blot analysis showed reduced contents for all COX subunits. Patients with clinical features resembling SMA but with an intact SMN gene should be screened for a mitochondrial disorder.     

Thyrotropic deficiency

Central hypothyroidism (thyrotropic deficiency) is due to a defect in TSH secretion by thyrotrophs (or alternatively to an altered bioactivity of TSH). Central hypothyroidism is rare and is often associated with other pituitary deficiencies as it is generally encountered in case of hypothalamo-pituitary tumoral process. Clinical symptoms are milder than those of primary thyroid failure. Diagnosis is based on free T4 measurement whose level is decreased while TSH concentration is normal or minimally increased, reflecting an alteration in the bioactivity of TSH. Replacement therapy is monitored by T4 level measurement: the objective is to obtain normal T4 levels. TSH concentration must not be taken into account for the adjustment of the thyroxine doses.     

Carbonic anhydrase II deficiency syndrome--clinico-pathological, biochemical and molecular studies

We reported on three unrelated Japanese families with carbonic anhydrase II (CA II) deficiency syndrome. In the present study, the CA II gene was sequenced in the family of a patient with hybrid type renal tubular acidosis whose parents were nonconsanguineous, and a T to G transition at exon 2 was identified. The change results in the substitution of the stop codon (TAG) at position 40 for Tyr (TAT). The maternal and paternal mutations were the same suggesting that they were obligate heterozygotes. This is a novel mutation in the CA II deficiency syndrome, which has not been described before.     

Ischemic infarct, mitral valve prolapse and protein S deficiency

Ischaemic stroke in young people, that is in those under 45 years of age, forms a distinct entity. Whereas in the case of older patients the main cause is arteriosclerosis, in the younger group a broad spectrum of etiologies can be found. It is for this reason that in these latter cases we must carry out a diagnostic study that is not only more exhaustive but also additionally is aimed at seeking out specific pathologies as for instance a possible association with vasculitis, infectious diseases, hematological abnormalities or unclear cardiopathology. Given the therapeutic transcendency that findings might have, in order to avoid new bouts in patients at the most productive moments in their lives, we believe it to be of great interest to carefully study these patients as exhaustively as need be. In the present work we present the case of a young patient with ischaemic infarct in the region of both upper cerebella which started out with a clinical picture of ataxia and dysarthria with benign course and total recovery. Possible etiologies are discussed in the light of findings made during complementary tests, as well as the unusual location of the lesions.     

Iminopeptiduria, skin ulcerations, and edema in a boy with prolidase deficiency

A 12-year-old boy with recurrent skin ulceration, chronic generalized lymphedema, and mild mental retardation was found to excrete massive amounts of dipeptides, most (but not all) of which had proline or hydroxyproline as the carboxyl terminal residue. Glycylproline predominated. Prolidase deficiency was demonstrated in red blood cells and in fibroblastic cells. Prolidase activity was present in continuous lymphoid cell cultures at the same low level observed in control cells.     

Familial lipoprotein lipase deficiency in infancy: clinical, biochemical, and molecular study

Although almost all of the energy contained within the ultraviolet (UV) wavelengths of solar radiation is absorbed within the epidermis and upper layers of the dermis, UV irradiation can suppress the immune response to antigens introduced at distant, non-irradiated body sites. The production of immune modulatory cytokines, such as interleukin-10 (IL-10), by UV-irradiated keratinocytes and its effect on T helper type 1 (Th1)/Th2-cell balance are thought to play a major role in the induction of systemic immune suppression. Because it is suggested that costimulatory molecules, such as CD80 and CD86, differentially stimulate Th1 and Th2 cells we wished to investigate the role of these costimulatory molecules in the activation of immune suppression. We injected UV-irradiated mice with monoclonal antibodies to CD80 and CD86 and asked what effect, if any, this would have on UV-induced immune suppression. Anti-CD86, but not anti-CD80 or control rat IgG, blocked UV-induced immune suppression. Moreover, monoclonal anti-CD86 blocked the induction of suppressor T cells normally found in the spleens of the UV-irradiated mice. Monoclonal anti-CD86 also reversed the UV-induced impairment of systemic antigen-presenting cell function. IL-10 was detectable in the serum of UV-irradiated mice as compared with normal controls, and injecting UV-irradiated mice with anti-CD86, but not anti-CD80 or control rat IgG, blocked the secretion of IL-10 into the serum. We propose that UV exposure favours costimulation by CD86, which enhances the production of serum IL-10, thus suppressing Th1-cell-mediated immune reactions.     

Effects of magnesium deficiency on strength, mass, and composition of rat femur

Era is an Escherichia coli GTPase that is essential for cell viability and is peripherally associated with the cytoplasmic membrane. Both immunoelectron microscopy and subcellular-fractionation experiments have shown that Era is present in cytoplasmic as well as membrane-associated pools. These data led to speculation that the mechanism of action of Era may require cycling between membrane and cytoplasmic sites. In order to investigate this possibility, an in vitro binding assay was developed to characterize the binding of Era to membrane fractions. Competition and saturation binding experiments suggest that a site that is specific for Era and capable of binding up to 5 ng of Era per microgram of membrane protein is present in membrane preparations. The binding curve is complex, indicating that multiple equilibria describe the interaction. The binding of Era to this putative receptor is dependent on guanine nucleotides; binding cannot be measured in the absence of nucleotide, and neither ATP nor UTP can substitute. Subfractionation of cell walls showed that the guanine nucleotide-dependent binding site was present in fractions enriched in cytoplasmic membrane. These data provide evidence that Era may be involved in a GTPase-receptor-coupled membrane-signaling pathway that is essential for growth in E. coli.     

Menopause: A developmental stage, not a deficiency disease.

Proposes the view that menopause is a unique stage of development within the midlife period of reconstruction. Midlife women in therapy are viewed as a special sample of midlife women in general, and therapists are challenged to go beyond the current medical conception of menopause as a "deficiency disease." Results are reported from a survey of 157 psychotherapists concerning beliefs and clinical behaviors relating to menopause. Reflecting society's negative social construction of menopause, the data indicate that both therapists and their menopausal patients are hesitant to discuss menopause. Therapists report that most women who do discuss menopause in psychotherapy say that menopause means "getting old." The unexpected ambivalence of therapists regarding discussion of menopausal issues is analyzed in terms of countertransference issues. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Microcytosis, anisocytosis and the red cell indices in iron deficiency

Red cell volume distribution curves have been used to measure microcytosis and anisocytosis in normal subjects, blood donors and patients with iron deficiency anaemia. These measurements were more sensitive than the conventional red cell indices for detecting blood donors with a low transferrin saturation. Three stages are suggested as iron deficiency progressively interferes with haemopoietic function. Anisocytosis and an increased percentage of microcytic cells are the first haematological abnormalities to occur and at this stage haemoglobin concentration is usually normal and trasferrin saturation less than 32%. At the second stage the MCV and MCH decline, haemoglobin concentration is generally sub-normal, though not below 9 g/dl, and transferrin saturation is usually below 16%. The final stage of iron deficiency is associated with a low MCHC, a haemoglobin concentration below 9 g/dl and a transferrin saturation of less than 16%.