Vitamin B6 deficient plants display increased sensitivity to high light and photo-oxidative stress

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Rumeau Dominique

2009-11-01

Full Text Available Abstract Background Vitamin B6 is a collective term for a group of six interconvertible compounds: pyridoxine, pyridoxal, pyridoxamine and their phosphorylated derivatives. Vitamin B6 plays essential roles as a cofactor in a range of biochemical reactions. In addition, vitamin B6 is able to quench reactive oxygen species in vitro, and exogenously applied vitamin B6 protects plant cells against cell death induced by singlet oxygen (1O2. These results raise the important question as to whether plants employ vitamin B6 as an antioxidant to protect themselves against reactive oxygen species. Results The pdx1.3 mutation affects the vitamin B6 biosynthesis enzyme, pyridoxal synthase (PDX1, and leads to a reduction of the vitamin B6 concentration in Arabidopsis thaliana leaves. Although leaves of the pdx1.3 Arabidopsis mutant contained less chlorophyll than wild-type leaves, we found that vitamin B6 deficiency did not significantly impact photosynthetic performance or shoot and root growth. Chlorophyll loss was associated with an increase in the chlorophyll a/b ratio and a selective decrease in the abundance of several PSII antenna proteins (Lhcb1/2, Lhcb6. These changes were strongly dependent on light intensity, with high light amplifying the difference between pdx1.3 and the wild type. When leaf discs were exposed to exogenous 1O2, lipid peroxidation in pdx1.3 was increased relative to the wild type; this effect was not observed with superoxide or hydrogen peroxide. When leaf discs or whole plants were exposed to excess light energy, 1O2-mediated lipid peroxidation was enhanced in leaves of the pdx1.3 mutant relative to the wild type. High light also caused an increased level of 1O2 in vitamin B6-deficient leaves. Combining the pdx1.3 mutation with mutations affecting the level of 'classical' quenchers of 1O2 (zeaxanthin, tocopherols resulted in a highly photosensitive phenotype. Conclusion This study demonstrates that vitamin B6 has a function in

Deficiency of PdxR in Streptococcus mutans affects vitamin B6 metabolism, acid tolerance response and biofilm formation.

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Liao, S; Bitoun, J P; Nguyen, A H; Bozner, D; Yao, X; Wen, Z T

2015-08-01

Streptococcus mutans, a key etiological agent of the human dental caries, lives primarily on the tooth surface in tenacious biofilms. The SMU864 locus, designated pdxR, is predicted to encode a member of the novel MocR/GabR family proteins, which are featured with a winged helix DNA-binding N-terminal domain and a C-terminal domain highly homologous to the pyridoxal phosphate-dependent aspartate aminotransferases. A pdxR-deficient mutant, TW296, was constructed using allelic exchange. PdxR deficiency in S. mutans had little effect on cell morphology and growth when grown in brain heart infusion. However, when compared with its parent strain, UA159, the PdxR-deficient mutant displayed major defects in acid tolerance response and formed significantly fewer biofilms (P mutans is known to require vitamin B6 to grow in defined medium, B6 vitamers, especially pyridoxal, were strongly inhibitory at millimolar concentrations, against S. mutans growth and biofilm formation. Our results suggest that PdxR in S. mutans plays an important role in regulation of vitamin B6 metabolism, acid tolerance response and biofilm formation. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Glucose-6-phosphate dehydrogenase deficiency in Nigerian children.

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Olatundun Williams

Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most common human enzymopathy and in Sub-Saharan Africa, is a significant cause of infection- and drug-induced hemolysis and neonatal jaundice. Our goals were to determine the prevalence of G6PD deficiency among Nigerian children of different ethnic backgrounds and to identify predictors of G6PD deficiency by analyzing vital signs and hematocrit and by asking screening questions about symptoms of hemolysis. We studied 1,122 children (561 males and 561 females aged 1 month to 15 years. The mean age was 7.4 ± 3.2 years. Children of Yoruba ethnicity made up the largest group (77.5% followed by those Igbo descent (10.6% and those of Igede (10.2% and Tiv (1.8% ethnicity. G6PD status was determined using the fluorescent spot method. We found that the overall prevalence of G6PD deficiency was 15.3% (24.1% in males, 6.6% in females. Yoruba children had a higher prevalence (16.9% than Igede (10.5%, Igbo (10.1% and Tiv (5.0% children. The odds of G6PD deficiency were 0.38 times as high in Igbo children compared to Yoruba children (p=0.0500. The odds for Igede and Tiv children were not significantly different from Yoruba children (p=0.7528 and 0.9789 respectively. Mean oxygen saturation, heart rate and hematocrit were not significantly different in G6PD deficient and G6PD sufficient children. The odds of being G6PD deficient were 2.1 times higher in children with scleral icterus than those without (p=0.0351. In conclusion, we determined the prevalence of G6PD deficiency in Nigerian sub-populations. The odds of G6PD deficiency were decreased in Igbo children compared to Yoruba children. There was no association between vital parameters or hematocrit and G6PD deficiency. We found that a history of scleral icterus may increase the odds of G6PD deficiency, but we did not exclude other common causes of icterus such as sickle cell disease or malarial infection.

B12 deficiency increases with age in hospitalized patients: a study on 14,904 samples.

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Mézière, Anthony; Audureau, Etienne; Vairelles, Stéphane; Krypciak, Sébastien; Dicko, Michèle; Monié, Marguerite; Giraudier, Stéphane

2014-12-01

Cobalamin deficiency is responsible for hematological, neurological, neurocognitive, and neuropsychiatric impairments and is a risk factor for cardiovascular diseases, particularly in the elderly people. In order to determine B12 status in old inpatients, a total number of 14,904 hospitalized patients in whom B12 measurements were performed in five hospitals in the Paris metropolitan area were included from January 1, 2011 to December 31, 2011. The aims of the study were to determine whether age had an impact on B12 and folate deficiencies and to evaluate correlations between B12 and biological parameters-folate, hemoglobin, mean cell volume, homocystein (tHcy)-and age. Patients were aged 70.3±19.5 years. Low B12 concentration ( 17 µmol/L), 20.4% had low folate concentration (folate 17 µmol/L), and 4.7% of patients were both functional B12 and folate deficient. The B12 or folate deficient patients had lower mean cell volume level than nondeficient patients. Increase in mean cell volume and tHcy concentrations with age and decrease in B12, folate, and hemoglobin levels with age were observed. Frequency of functional B12 deficiency was 9.6% in patients aged 30-60 years and 14.2% in patients over 90 years. Frequency of functional folate deficiency was 9.5% in 30-60 years and 12.1% in >90 years. In inpatients, functional B12 deficiency and functional folate deficiency increase with age and are not associated with anemia or macrocytosis. False vitamin B deficiencies are frequent. © The Author 2014. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Subtle abnormalities of gait detected early in vitamin B6 deficiency in aged and weanling rats with hind leg gait analysis.

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Schaeffer, M C; Cochary, E F; Sadowski, J A

1990-04-01

Motor abnormalities have been observed in every species made vitamin B6 deficient, and have been detected and quantified early in vitamin B6 deficiency in young adult female Long-Evans rats with hind leg gait analysis. Our objective was to determine if hind leg gait analysis could be used to detect vitamin B6 deficiency in weanling (3 weeks) and aged (23 months) Fischer 344 male rats. Rats (n = 10 per group) were fed: the control diet ad libitum (AL-CON); the control diet devoid of added pyridoxine hydrochloride (DEF); or the control diet pair-fed to DEF (PF-CON). At 10 weeks, plasma pyridoxal phosphate concentration confirmed deficiency in both age groups. Gait abnormalities were detected in the absence of gross motor disturbances in both aged and weanling DEF rats at 2-3 weeks. Width of step was significantly reduced (16%, p less than 0.003) in DEF aged rats compared to AL- and PF-CON. This pattern of response was similar to that reported previously in young adult rats. In weanling rats, pair feeding alone reduced mean width of step (+/- SEM) by 25% compared to ad libitum feeding (2.7 +/- 0.1 vs 3.6 +/- 0.1 cm for PF- vs AL-CON, respectively, p less than 0.05). In DEF weanling rats, width (3.0 +/- 0.1 cm) was increased compared to PF-CON (11%, p less than 0.05) but decreased compared to AL-CON (16%, p less than 0.05). Width of step was significantly altered early in B6 deficiency in rats of different ages and strains and in both sexes.(ABSTRACT TRUNCATED AT 250 WORDS)

Is vitamin B12 deficiency a risk factor for cardiovascular disease in vegetarians?

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Pawlak, Roman

2015-06-01

The goal of this paper is to describe the role of vitamin B12 deficiency in cardiovascular disease development among vegetarians. Vegetarians have a high prevalence of vitamin B12 deficiency. Deficiency of this vitamin is associated with a variety of atherogenic processes that are mainly, but not exclusively, due to vitamin B12 deficiency-induced hyperhomocysteinemia. Each 5-μmol/L increase above 10 μmol/L of serum homocysteine is associated with a 20% increased risk of circulatory health problems. Mean homocysteine concentration >10 μmol/L among vegetarians was reported in 32 of 34 reports. Macrocytosis associated with vitamin B12 deficiency is also associated with fatal and non-fatal coronary disease, myocardial infarction, stroke, and other circulatory health problems. Compared with non-vegetarians, vegetarians have an improved profile of the traditional cardiovascular disease risk factors, including serum lipids, blood pressure, serum glucose concentration, and weight status. However, not all studies that assessed cardiovascular disease incidence among vegetarians reported a protective effect. Among studies that did show a lower prevalence of circulatory health problems, the effect was not as pronounced as expected, which may be a result of poor vitamin B12 status due to a vegetarian diet. Vitamin B12 deficiency may negate the cardiovascular disease prevention benefits of vegetarian diets. In order to further reduce the risk of cardiovascular disease, vegetarians should be advised to use vitamin B12 supplements. Copyright © 2015 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved.

Neurologic Manifestations of Vitamin B Deficiency after Bariatric Surgery.

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Punchai, Suriya; Hanipah, Zubaidah Nor; Meister, Katherine M; Schauer, Philip R; Brethauer, Stacy A; Aminian, Ali

2017-08-01

The aim of this study was to assess the incidence, clinical presentation, and outcomes of neurologic disorders secondary to vitamin B deficiencies following bariatric surgery. Patients at a single academic institution who underwent bariatric surgery and developed neurologic complications secondary to low levels of vitamins B1, B2, B6, and B12 between the years 2004 and 2015 were studied. In total, 47 (0.7%) bariatric surgical patients (Roux-en-Y gastric bypass n = 36, sleeve gastrectomy n = 9, and duodenal switch n = 2) developed neurologic manifestations secondary to vitamin B deficiencies. Eleven (23%) patients developed postoperative anatomical complications contributed to poor oral intake. Median duration to onset of neurologic manifestation following surgery was 12 months (IQR, 5-32). Vitamin deficiencies reported in the cohort included B1 (n = 30), B2 (n = 1), B6 (n = 12), and B12 (n = 12) deficiency. The most common manifestations were paresthesia (n = 31), muscle weakness (n = 15), abnormal gait (n = 11), and polyneuropathy (n = 7). Four patients were diagnosed with Wernicke-Korsakoff syndrome (WKS) which was developed after gastric bypass (n = 3) and sleeve gastrectomy (n = 1). Seven patients required readmission for management of severe vitamin B deficiencies. Overall, resolution of neurologic symptoms with nutritional interventions and pharmacotherapy was noted in 40 patients (85%). The WKS was not reversible, and all four patients had residual mild ataxia and nystagmus at the last follow-up time. Nutritional neurologic disorders secondary to vitamin B deficiency are relatively uncommon after bariatric surgery. While neurologic disorders are reversible in most patients (85%) with vitamin replacements, persistent residual neurologic symptoms are common in patients with WKS.

Vitamin B12 deficiency

DEFF Research Database (Denmark)

Green, Ralph; Allen, Lindsay H; Bjørke-Monsen, Anne-Lise

2017-01-01

, subclinical deficiency affects between 2.5% and 26% of the general population depending on the definition used, although the clinical relevance is unclear. B12 deficiency can affect individuals at all ages, but most particularly elderly individuals. Infants, children, adolescents and women of reproductive age...... remain debated. Management depends on B12 supplementation, either via high-dose oral routes or via parenteral administration. This Primer describes the current knowledge surrounding B12 deficiency, and highlights improvements in diagnostic methods as well as shifting concepts about the prevalence, causes...

Parental discussion of G6PD deficiency and child health: implications for clinical practice.

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Guan, Yue; Roter, Debra L; Huang, Aichu; Erby, Lori A H; Chien, Yin-Hsiu; Hwu, Wuh-Liang

2014-03-01

Parents are encouraged to discuss self-care with children affected by G6PD deficiency; however, little is known about the extent or impact of these discussions on the physical and psychosocial health of these children. The purpose of this study was to examine the nature of parental-child discussions of G6PD deficiency self-care and their relationship to child health. A quantitative cross-sectional survey of 178 Taiwanese parents of children with G6PD deficiency was conducted. The extent of parental-child self-care discussions was assessed in regards to coverage of nine key topics. Parent's G6PD deficiency status, knowledge of haemolytic anaemia symptoms and reported G6PD deficiency education from providers were examined as correlates of parental discussion. Child health was assessed with the child health questionnaire-parent form (Chinese version) and a 13-item haemolytic anaemia symptom list. Self-care discussions were positively correlated with parental G6PD deficiency status (β=2.08, p=0.03), accurate identification of haemolytic anaemia symptoms (β=0.18, p=0.01), the thoroughness and clarity of patient education (β=0.14, pchild age (β=1.04, pchild health (β=1.18, pchild G6PD deficiency self-care discussions are associated with better child health, and parental involvement in these discussions is facilitated by the thoroughness and clarity of patient education received from providers.

Mathematical modeling of glutathione status in type 2 diabetics with vitamin B12 deficiency

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Varun eKaramshetty

2016-03-01

Full Text Available Deficiencies in vitamin B12 and glutathione (GSH are associated with anumber of diseases including type 2 diabetes mellitus. We tested newly diag-nosed Indian diabetic patients for correlation between their vitamin B12 andGSH, and found it to be weak. Here we seek to examine the theoreticaldependence of GSH on vitamin B12 with a mathematical model of 1-carbonmetabolism due to Reed and co-workers. We study the methionine cycleof the Reed-Nijhout model by developing a simple ‘stylized model’ that cap-tures its essential topology and whose kinetics are analytically tractable. Theanalysis shows – somewhat counter-intuitively – that the flux responsible forthe homeostasis of homocysteine is, in fact, peripheral to the methioninecycle. Elevation of homocysteine arises from reduced activity of methioninesynthase, a vitamin B12-dependent enzyme, however, this does not increaseGSH biosynthesis. The model suggests that the lack of vitamin B12–GSHcorrelation is explained by suppression of activity in the trans-sulfurationpathway that limits the synthesis of cysteine and GSH from homocysteine.We hypothesize this ‘cysteine-block’ is an essential consequence of vitaminB12 deficiency. It can be clinically relevant to appreciate that these secondaryeffects of vitamin B12 deficiency could be central to its pathophysiology.

Severe but Not Moderate Vitamin B12 Deficiency Impairs Lipid Profile, Induces Adiposity, and Leads to Adverse Gestational Outcome in Female C57BL/6 Mice.

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Ghosh, Shampa; Sinha, Jitendra Kumar; Putcha, Uday Kumar; Raghunath, Manchala

2016-01-01

Vitamin B12 deficiency is widely prevalent in women of childbearing age, especially in developing countries. In the present study, through dietary restriction, we have established mouse models of severe and moderate vitamin B12 deficiencies to elucidate the impact on body composition, biochemical parameters, and reproductive performance. Female weanling C57BL/6 mice were fed for 4 weeks: (a) control AIN-76A diet, (b) vitamin B12-restricted AIN-76A diet with pectin as dietary fiber (severe deficiency group, as pectin inhibits vitamin B12 absorption), or (c) vitamin B12-restricted AIN-76A diet with cellulose as dietary fiber (moderate deficiency group as cellulose does not interfere with vitamin B12 absorption). After confirming deficiency, the mice were mated with male colony mice and maintained on their respective diets throughout pregnancy, lactation, and thereafter till 12 weeks. Severe vitamin B12 deficiency increased body fat% significantly, induced adiposity and altered lipid profile. Pregnant dams of both the deficient groups developed anemia. Severe vitamin B12 deficiency decreased the percentage of conception and litter size, pups were small-for-gestational-age and had significantly lower body weight at birth as well as weaning. Most of the offspring born to severely deficient dams died within 24 h of birth. Stress markers and adipocytokines were elevated in severe deficiency with concomitant decrease in antioxidant defense. The results show that severe but not moderate vitamin B12 restriction had profound impact on the physiology of C57BL/6 mice. Oxidative and corticosteroid stress, inflammation and poor antioxidant defense seem to be the probable underlying mechanisms mediating the deleterious effects.

Severe but not moderate vitamin B12 deficiency impairs lipid profile, induces adiposity and leads to adverse gestational outcome in female C57BL/6 mice

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Shampa eGhosh

2016-01-01

Full Text Available Vitamin B12 deficiency is widely prevalent in women of childbearing age especially in developing countries. In the present study, through dietary restriction, we have established mouse models of severe and moderate vitamin B12 deficiencies to elucidate the impact on body composition, biochemical parameters and reproductive performance. Female weanling C57BL/6 mice were fed for four weeks, (a control AIN-76A diet, (b vitamin B12 restricted AIN-76A diet with pectin as dietary fiber (severe deficiency group, as pectin inhibits vitamin B12 absorption or (c vitamin B12 restricted AIN-76A diet with cellulose as dietary fiber (moderate deficiency group as cellulose does not interfere with vitamin B12 absorption. After confirming deficiency, the mice were mated with male colony mice and maintained on their respective diets throughout pregnancy, lactation and thereafter till 12 weeks. Severe vitamin B12 deficiency increased body fat % significantly, induced adiposity and altered lipid profile. Pregnant dams of both the deficient groups developed anemia. Severe vitamin B12 deficiency decreased the percentage of conception and litter size, pups were small-for-gestational-age and had significantly lower body weight at birth as well as weaning. Most of the offspring born to severely deficient dams died within 24 hours of birth. Stress markers and adipocytokines were elevated in severe deficiency with concomitant decrease in antioxidant defense. The results show that severe but not moderate vitamin B12 restriction had profound impact on the physiology of C57BL/6 mice. Oxidative and corticosteroid stress, inflammation and poor antioxidant defense seem to be the probable underlying mechanisms mediating the deleterious effects.

Pyridoxal-5'-phosphate deficiency is associated with hyperhomocysteinemia regardless of antioxidant, thiamine, riboflavin, cobalamine, and folate status in critically ill patients.

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Molina-López, Jorge; Florea, Daniela; Quintero-Osso, Bartolomé; de la Cruz, Antonio Pérez; Rodríguez-Elvira, Manuel; Del Pozo, Elena Planells

2016-06-01

Critically ill patients develop severe stress, inflammation and a clinical state that may raise the utilization and metabolic replacement of pyridoxal-5'-phosphate decreasing their body reserves. This study was designed to assess the nutritional pyridoxal-5'-phosphate status in critical care patients with systemic inflammatory response syndrome, comparing them with a group of healthy people, and studying it's association with factors involved in the pyridoxine and other B vitamins metabolism, as the total antioxidant capacity and Hcy as cardiovascular risk biomarker. Prospective, multicentre, comparative, observational and analytic study. One hundred and three critically ill patients from different hospitals, and eighty four healthy subjects from Granada, Spain, all with informed consent. Data from daily nutritional assessment, ICU severity scores, clinical and nutritional parameters, antioxidant status and homocysteine levels was taken at admission and at the seventh day of the ICU stay. Thiamine, riboflavin, pyridoxine and folate status proved deficient in a large number of patients, being significantly lower in comparison with control group, and significantly decreased at 7th day of ICU stay. Higher homocysteine was observed in patients compared with control group (p < 0.05) where 31.5 and 26.8 percent of subjects presented hyperhomocysteinemia at initial and final of study, respectively. Antioxidant status was lower than control group in two periods analysed, and decreased at 7th day of ICU stay (p < 0.05) being associated with PLP deficiency. PLP deficiency was also correlated with hyperhomocysteinemia at two times measured (r. -0.73, p < 0.001; r. -0.69, p < 0.001, respectively), showing at day 7 an odds ratio of 6.62 in our multivariate model. Critically ill patients with SIRS show deficient B vitamin and low antioxidant statuses. Despite association found between PLP deficiency and low antioxidant status in critically ill patients, PLP deficiency

[Vitamin B12 Deficiency in Type 2 Diabetes Mellitus].

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Tavares Bello, Carlos; Capitão, Ricardo Miguel; Sequeira Duarte, João; Azinheira, Jorge; Vasconcelos, Carlos

2017-10-31

Type 2 diabetes mellitus is a common disease, affecting up to 13.1% of the Portuguese population. In addition to the known micro and macrovascular complications, drug side effects constitute a major concern, leading to changes in the treatment guidelines, which favor safety over efficacy. Metformin is the first-line pharmacological treatment for most patients with type 2 diabetes mellitus; however, it has been associated with vitamin B12 deficiency in up to 30% of treated patients. The authors describe the prevalence of vitamin B12 deficiency in a diabetic population and explore the possible underlying factors. Retrospective, observational study. Clinical and laboratory data of type 2 diabetes mellitus patients whose vitamin B12 status was evaluated in the last decade (2005 - 2016) were analyzed. Patients with known malabsorptive syndromes or having undergone bariatric surgery were excluded from the study. Statistical analysis of the data was done and the results were considered statistically significant at p values 2.2 years and 11 ± 10.4 years of type 2 diabetes mellitus duration. These patients had a high prevalence of complications: diabetic renal disease 47.7%, neuropathy 9.2%, retinopathy 14.9%, coronary artery disease 8.4%, cerebrovascular disease 10.9%, and peripheral arterial disease 5.5%. Vitamin B12 deficiency (21.4% of the population and this subgroup was older (68.4 vs 65.8 years, p = 0.006), had a longer type 2 diabetes mellitus duration (13.35 vs 10.36 years; p = 0.001), higher prevalence of retinopathy (20.9% vs 13.3%; p = 0.005) and thyroid dysfunction (34% vs 23.7%; p = 0.002). Vitamin B12 deficiency was also more frequent in patients treated with metformin (24.7% vs 15.8%; p = 0.017), antiplatelet agents (25.4% vs 16.2%, p 26.8% vs 18.2%; p = 0.001). After adjustment for possible confounders, the variables associated with B12 deficiency were: metformin, hypothyroidism, age and type 2 diabetes mellitus duration. Despite the retrospective design

Vitamin B12 Deficiency in Relation to Functional Disabilities

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Heather E. Rasmussen

2013-11-01

Full Text Available This study was designed to assess whether symptoms, functional measures, and reported disabilities were associated with vitamin B12 (B12 deficiency when defined in three ways. Participants, aged 60 or more years of age, in 1999–2002 National Health and Nutrition Examination Surveys (NHANES were categorized in relation to three previously used definitions of B12 deficiency: (1 serum B12 20 μmol/L; and (3 serum B12 0.21 μmol/L. Functional measures of peripheral neuropathy, balance, cognitive function, gait speed, along with self-reported disability (including activities of daily living were examined with standardized instruments by trained NHANES interviewers and technicians. Individuals identified as B12 deficient by definition 2 were more likely to manifest peripheral neuropathy OR (odds (95% confidence intervals, p value: 9.70 (2.24, 42.07, 0.004 and report greater total disability, 19.61 (6.22, 61.86 0.0001 after adjustments for age, sex, race, serum creatinine, and ferritin concentrations, smoking, diabetes, and peripheral artery disease. Smaller, but significantly increased, odds of peripheral neuropathy and total disability were also observed when definition 3 was applied. Functional measures and reported disabilities were associated with B12 deficiency definitions that include B12 biomarkers (homocysteine or methylmalonic acid. Further study of these definitions is needed to alert clinicians of possible subclinical B12 deficiency because functional decline amongst older adults may be correctable if the individual is B12 replete.

High prevalence of suboptimal vitamin B12 status in young adult women of South Asian and European ethnicity.

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Quay, Teo A W; Schroder, Theresa H; Jeruszka-Bielak, Marta; Li, Wangyang; Devlin, Angela M; Barr, Susan I; Lamers, Yvonne

2015-12-01

Suboptimal vitamin B12 (B12) status has been associated with an increased risk of congenital anomalies, preterm birth, and childhood insulin resistance. South Asians - Canada's largest minority group - and women of reproductive age are vulnerable to B12 deficiency. This study aimed to assess the prevalence of and factors associated with B12 deficiency and suboptimal B12 status in a convenience sample of young adult women of South Asian and European descent in Metro Vancouver. We measured serum B12, holotranscobalamin, plasma methylmalonic acid, red blood cell and plasma folate, and hematologic parameters in 206 nonpregnant, healthy women aged 19-35 years. Categorization for B12 status adhered to serum B12 cutoffs for deficiency (women is higher than in the general Canadian population. In light of maternal and fetal health risks associated with B12 inadequacy in early-pregnancy, practitioners should consider monitoring B12 status before and during early pregnancy, especially in immigrants and women with low dietary B12 intakes including non-users of vitamin supplements.

A general review on vitamin B12 deficiency with focus on the situation in Jordan

International Nuclear Information System (INIS)

Qutob, M. S.; Takruri, H. R.

2011-01-01

Vitamin B 12 (cobalamin) is an essential nutrient that is only obtained from foods of animal origin, such as meat, eggs and dairy products. Vitamin B 12 plays an important role in DNA synthesis and neurological function. Thus its deficiency can lead to several neurological symptoms such as memory loss, dizziness and in severe cases may lead to dementia. Many factors can cause or lead to vitamin B-1 2 deficiency. Among these are malabsorption, several gastron intestinal problems (i.e. celiac disease, Crobn's disease) and gastrointestinal surgeries. diagnosis of vitamin B-1 2 status depends commonly on serum vitamin B 12 which is nonspecific tool for the deficiency. Other more specific tests, which reflect true deficiency, include serum and urine methylmalonic aci de, total serum homocysteine and serum holotranscobalamin. Vitamin B 12 deficiency is a worldwide public health problem; epidemiological studies showed that its prevalence in industrialized countries ranges from 5-60% of the population depending on the used cutoff point of cobalamin level. In Jordan, many reports were published on vitamin B 12 deficiency. However, these reports gave different results of its prevalence ranging from 16-48% depending on the serum vitamin B 12 cutoff point used. A recent study showed a prevalence of true deficiency of 32.7% based on measuring both serum vitamin B 12 level and plasma methylmalonic acid. (authors).

Nutrition Status Of Children (1-6 Years In Slums Of Ghaziabad City

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Garg S.K

1997-01-01

Full Text Available Research question : What are the nutritional problems of pre- school children in slums? Objectives: (i To assess the nutritional status of the children . (ii To find out the nutritional deficiency disorders in them (iii To study their dietary intake. Study design: Cross- sectional. Setting : Slums of Ghaziabad city. Participants :771 children (1-6 years. Study Variables : Age, sex, caste, ICDS beneficiary status, weight, nutritional deficiency disorders, dietary intake and supplementary nutrition. Statistical analysis : Simple proportions and Chi- square test. Results : A majority (58.2 % of children were having under nutrition of varying grades irrespective of their sex and caste but influenced by their age and ICDS beneficiary status. Anaemia, xerophthalmia and goitre were present in 14.7%, 1.6% and 0.6 % children respectively. Average daily dietary intake of energy & nutrients were lower than the recommended daily allowances (RDA. Conclusion: Regular nutritional supplementation along with adequate nutrition education would reduce the nutritional deficiency disorders among children.

Vegan diet, subnormal vitamin B-12 status and cardiovascular health.

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Woo, Kam S; Kwok, Timothy C Y; Celermajer, David S

2014-08-19

Vegetarian diets have been associated with atherosclerosis protection, with healthier atherosclerosis risk profiles, as well as lower prevalence of, and mortality from, ischemic heart disease and stroke. However, there are few data concerning the possible cardiovascular effects of a vegan diet (with no meat, dairy or egg products). Vitamin B-12 deficiency is highly prevalent in vegetarians; this can be partially alleviated by taking dairy/egg products in lact-ovo-vegetarians. However, metabolic vitamin B-12 deficiency is highly prevalent in vegetarians in Australia, Germany, Italy and Austria, and in vegans (80%) in Hong Kong and India, where vegans rarely take vitamin B-12 fortified food or vitamin B-12 supplements. Similar deficiencies exist in northern Chinese rural communities consuming inadequate meat, egg or dairy products due to poverty or dietary habits. Vascular studies have demonstrated impaired arterial endothelial function and increased carotid intima-media thickness as atherosclerosis surrogates in such metabolic vitamin B-12 deficient populations, but not in lactovegetarians in China. Vitamin B-12 supplementation has a favourable impact on these vascular surrogates in Hong Kong vegans and in underprivileged communities in northern rural China. Regular monitoring of vitamin B-12 status is thus potentially beneficial for early detection and treatment of metabolic vitamin B-12 deficiency in vegans, and possibly for prevention of atherosclerosis-related diseases.

Vegan Diet, Subnormal Vitamin B-12 Status and Cardiovascular Health

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Kam S. Woo

2014-08-01

Full Text Available Vegetarian diets have been associated with atherosclerosis protection, with healthier atherosclerosis risk profiles, as well as lower prevalence of, and mortality from, ischemic heart disease and stroke. However, there are few data concerning the possible cardiovascular effects of a vegan diet (with no meat, dairy or egg products. Vitamin B-12 deficiency is highly prevalent in vegetarians; this can be partially alleviated by taking dairy/egg products in lact-ovo-vegetarians. However, metabolic vitamin B-12 deficiency is highly prevalent in vegetarians in Australia, Germany, Italy and Austria, and in vegans (80% in Hong Kong and India, where vegans rarely take vitamin B-12 fortified food or vitamin B-12 supplements. Similar deficiencies exist in northern Chinese rural communities consuming inadequate meat, egg or dairy products due to poverty or dietary habits. Vascular studies have demonstrated impaired arterial endothelial function and increased carotid intima-media thickness as atherosclerosis surrogates in such metabolic vitamin B-12 deficient populations, but not in lactovegetarians in China. Vitamin B-12 supplementation has a favourable impact on these vascular surrogates in Hong Kong vegans and in underprivileged communities in northern rural China. Regular monitoring of vitamin B-12 status is thus potentially beneficial for early detection and treatment of metabolic vitamin B-12 deficiency in vegans, and possibly for prevention of atherosclerosis-related diseases.

Vitamin B12 deficiency

Science.gov (United States)

Vitamin B12 (B12; also known as cobalamin) is a B vitamin that has an important role in cellular metabolism, especially in DNA synthesis, methylation and mitochondrial metabolism. Clinical B12 deficiency with classic haematological and neurological manifestations is relatively uncommon. However, sub...

Effect of two different sublingual dosages of vitamin B12 on cobalamin nutritional status in vegans and vegetarians with a marginal deficiency: A randomized controlled trial.

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Del Bo', Cristian; Riso, Patrizia; Gardana, Claudio; Brusamolino, Antonella; Battezzati, Alberto; Ciappellano, Salvatore

2018-02-15

Vegetarians and vegans are more vulnerable to vitamin B 12 deficiency with severe risks of megaloblastic anemia, cognitive decline, neuropathy, and depression. An easy and simple method of supplementation consists of taking one weekly dosage of 2000 μg. However, single large oral doses of vitamin B 12 are poorly absorbed. The present research evaluates the ability of two different sublingual dosages of vitamin B 12 (350 μg/week vs 2000 μg/week) in improving cyanocobalamin (vitamin B 12 ) nutritional status in vegans and vegetarians with a marginal deficiency. A 12-week randomized, double-blind, controlled, parallel intervention trial was performed. Forty subjects with marginal vitamin B 12 deficiency were enrolled and randomly divided into two groups: test group Ld (low dose, 350 μg/week) and control group Hd (high dose, 2000 μg/week) vitamin B 12 supplementation. Blood samples were collected at baseline and after 15, 30, 60, and 90 days from the intervention for the determination of vitamin B 12 , related metabolic markers, and blood cell counts. Two-way analysis of variance showed a significant effect of time (P < 0.0001) and of time × treatment interaction (P = 0.012) on serum concentration of vitamin B 12 that increased after 90-day supplementation (Ld and Hd) compared to baseline. Both the supplements increased (P < 0.0001, time effect) the levels of holotranscobalamin, succinic acid, methionine and wellness parameter, while decreased (P < 0.0001, time effect) the levels of methylmalonic acid, homocysteine and folate compared to baseline. No difference was observed between groups (LdvsHd). No effect was detected for vitamin B 6 and blood cell count. In our experimental conditions, both supplements were able to restore adequate serum concentrations of vitamin B 12 and to improve the levels of related metabolic blood markers in subjects with a marginal deficiency. The results support the use of a sublingual dosage of 50 μg/day (350�

Atypical B12 Deficiency with Nonresolving Paraesthesia

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S. Haider

2013-01-01

Full Text Available Vitamin B12 deficiency can present with various hematological, gastrointestinal and neurological manifestations. We report a case of elderly female who presented with neuropathy and vitamin B12 deficiency where the final work-up revealed polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes (POEMS. This case suggests that, although POEMS syndrome is a rare entity, it can present with vitamin-B12 deficiency and thus specific work up for early diagnosis of POEMS should be considered in patients with B12 deficiency unresponsive to therapy.

Education and micronutrient deficiencies: an ecological study exploring interactions between women's schooling and children's micronutrient status.

Science.gov (United States)

Harding, Kassandra L; Aguayo, Victor M; Masters, William A; Webb, Patrick

2018-04-10

Formal education can be a nutrition-sensitive intervention that supports the scale-up and impact of nutrition-specific actions. Maternal education has long been linked to child survival, growth, and development while adult earnings and nutrition are tied to years in school as a child. However, less is known about the relationship between maternal education and the micronutrient status of children, women and the general population. Using country-level data and an ecological study design, we explored the global associations between women's educational attainment and: a) anemia and vitamin A deficiency (VAD) in children aged 6-59 months; b) anemia in non-pregnant women; and c) zinc deficiency, urinary iodine excretion (UIE), and the proportion of infants protected against iodine deficiency in the general population Cross-sectional relationships (2005-2013) were assessed using linear regression models. Percentage of women without schooling was negatively associated with all outcomes. Number of years of schooling among women was positively associated with all outcomes except for UIE and the proportion of infants protected against iodine deficiency. Income level was a significant effect modifier of the effect of years of women's schooling on child anemia as well as of the proportion of women without formal education on zinc deficiency in the population. The relationship was strongest in low-income countries for child anemia, and was not significant in upper middle-income countries. For zinc deficiency, the relationship was not significant in low or lower middle income countries, which may suggest that a minimum threshold of resources needs to be reached before education can influence zinc status. While relationships between maternal schooling and micronutrient outcomes vary around the globe, more schooling is generally linked to lower rates of deficiency. These findings draw policy-relevant connections between formal education and anemia and micronutrient status

Influence of sickle heterozygous status and glucose-6-phosphate ...

African Journals Online (AJOL)

Dr. J. T. Ekanem

genes are known to offer reliable protection against falciparum malaria in malaria endemic areas ... study, we investigated the contribution of HbS and G6PD enzyme deficiency status in .... were analysed using an automated system,.

Synthesis of B6 vitamin

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Vučijak Nevena Ž.

2009-01-01

Full Text Available The importance of vitamin B6 has been known since its discovery in the 1940's. Chemical tests, elestrometric titration determinations, and absorption spectrum studies showed that this vitamin exists in three major chemical forms: pyridoxine (an alcohol, pyridoxal (an aldehyde, and pyridoxamine (a primary amine. Vitamin B6 is needed for more than 100 enzymes involved in protein metabolism, and it is assumed that this vitamin is cofactor of metabolic processes more important than any other substance. A deficiency of vitamin B6 in the human diet leads to severe disorders. Vitamin B6 is necessary for the proper function of the immune and nervous system, and helps the body convert protein to energy. This paper describes the history, properties and applications of vitamin B6, elucidation of chemical structure, and different procedures for synthesis of pyridoxine and pyridoxamine.

Vitamin B12 deficiency - a major cause of megaloblastic anaemia in patients attending a tertiary care hospital

International Nuclear Information System (INIS)

Iqbal, S.P.; Kakepoto, G.N.; Iqbal, S.P.

2009-01-01

Folate and vitamin B12 deficiencies have been known to cause megaloblastic anaemia. Since the deficiencies of these two vitamins are very common in Pakistani population, it would be imperative to investigate their role in causing megaloblastic anaemia. The objective of this study was to find out the contribution of folate and vitamin B12 deficiencies in causing megaloblastic anaemia in our patient population. Methods: In this retrospective cohort study, clinical records of 220 patients (101 females and 119 males with an age range of 1 - 80 years) who presented themselves with macrocytic anaemia at the Aga Khan University Hospital were collected. Data pertaining to complete blood count and serum levels of folate and vitamin B12 were analysed. Results: The mean haemoglobin (Hb) level was 6.8 +- 0.2 gm/dl. Sixty-nine percent of the patients had severe anaemia (Hb<8 gm/dl). Mean +- SEM values of haemoglobin, serum folate and serum B12 were not significantly different between males and females (Hb 6.4 +- 0.3 gm/dl vs 6.3 +- 0.3 gm/dl; folate 6.9 +- 0.8 mu g/ml vs 7.8 +- 1 mu g/ml; B12 259 +- 65 mu g/ml vs 225 +- 45 mu g/ml, respectively). Linear regression analysis showed that serum folate was inversely related with the mean corpuscular volume (MCV, p=0.04). Spearman's correlation analysis indicated an inverse mild association between MCV and serum folate (correlation coefficient= -0.18). Folate deficiency was 43.4%, while vitamin B12 deficiency was 78.5% in these patients. Seventy-one percent of folate-deficient patients had vitamin B12 deficiency as well, while 26.1% of patients with B12 deficiency had a co-occurrence of folate deficiency. Conclusion: Vitamin B12 deficiency appears to be the major factor leading to megaloblastic anaemia in our study population. Inadequate dietary intake, over-cooking of our food and poor absorption might be contributing to high prevalence of vitamin B12 deficiency in this population. (author)

A case of succinic semialdehyde dehydrogenase deficiency with status epilepticus and rapid regression.

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Horino, Asako; Kawawaki, Hisashi; Fukuoka, Masataka; Tsuji, Hitomi; Hattori, Yuka; Inoue, Takeshi; Nukui, Megumi; Kuki, Ichiro; Okazaki, Shin; Tomiwa, Kiyotaka; Hirose, Shinichi

2016-10-01

Clinical phenotypic expression of SSADH deficiency is highly heterogeneous, and some infants may develop refractory secondary generalized seizures. A 9-month-old boy manifested partial seizures, developing severe status epilepticus, and conventional antiepileptic drugs were ineffective. Use of ketamine contributed to the control of status epilepticus, achieving a reduction in frequency of partial seizures, and improving EEG findings without apparent complications. Diffusion-weighted images showed hyperintensities in the bilateral basal ganglia and fornix, and multiple T2 hyperintensity lesions were detected. (123)I-iomazenil (IMZ) SPECT revealed a decrease in binding of (123)I-iomazenil predominantly in the left temporal region by the 18th day of hospitalization. However, repeated IMZ-SPECT on the 46th day of hospitalization demonstrated almost no accumulation across a broad region, sparing the left temporal region. The patient showed rapid regression, refractory myoclonus, and severe progressive brain atrophy. IMZ-SPECT findings demonstrated reduced benzodiazepine receptor binding and its dynamic changes in an SSADH-deficient patient. Considering the down regulation of the GABAA receptor, ketamine should be included in pharmacotherapeutic strategies for treatment of refractory status epilepticus in SSADH-deficient patients. Copyright © 2016 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

[Vitamin B12 deficiency: what's new?].

Science.gov (United States)

Braillard, O; Casini, A; Samii, K; Rufenacht, P; Junod, Perron N

2012-09-26

Vitamin B12 screening is only recommended among symptomatic patients or in those with risk factors. The main cause of vitamin B12 deficiency is the food cobalamin malabsorption syndrom. Holotranscobalamin is a more reliable marker than cyanocobalamin to confirm vitamin B12 deficiency, but it has not been validated yet in complex situations. An autoimmune gastritis must be excluded in the absence of risk factors but in the presence of a probable deficiency. Oral substitution treatment is effective but requires excellent therapeutic compliance and close follow-up to monitor the response to treatment. It has not yet been studied among patients suffering from severe symptoms, inflammatory bowel disease and ileal resection.

Effects of folate and vitamin B12 deficiencies during pregnancy on fetal, infant, and child development.

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Molloy, Anne M; Kirke, Peadar N; Brody, Lawrence C; Scott, John M; Mills, James L

2008-06-01

The importance of folate in reproduction can be appreciated by considering that the existence of the vitamin was first suspected from efforts to explain a potentially fatal megaloblastic anemia in young pregnant women in India. Today, low maternal folate status during pregnancy and lactation remains a significant cause of maternal morbidity in some communities. The folate status of the neonate tends to be protected at the expense of maternal stores; nevertheless, there is mounting evidence that inadequate maternal folate status during pregnancy may lead to low infant birthweight, thereby conferring risk of developmental and long-term adverse health outcomes. Moreover, folate-related anemia during childhood and adolescence might predispose children to further infections and disease. The role of folic acid in prevention of neural tube defects (NTD) is now established, and several studies suggest that this protection may extend to some other birth defects. In terms of maternal health, clinical vitamin B12 deficiency may be a cause of infertility or recurrent spontaneous abortion. Starting pregnancy with an inadequate vitamin B12 status may increase risk of birth defects such as NTD, and may contribute to preterm delivery, although this needs further evaluation. Furthermore, inadequate vitamin B12 status in the mother may lead to frank deficiency in the infant if sufficient fetal stores of vitamin B12 are not laid down during pregnancy or are not available in breastmilk. However, the implications of starting pregnancy and lactation with low vitamin B12 status have not been sufficiently researched.

The combination of two Sle2 lupus-susceptibility loci and Cdkn2c deficiency leads to T cell-mediated pathology in B6.Faslpr mice

Science.gov (United States)

Xu, Zhiwei; Croker, Byron P.; Morel, Laurence

2013-01-01

The NZM2410 Sle2c1 lupus susceptibility locus is responsible for the expansion of the B1a cell compartment and for the induction of T-cell induced renal and skin pathology on a CD95 deficient (Faslpr)-background. We have previously shown that deficiency in cyclin-dependent kinase inhibitor p18INK4c (p18) was responsible for the B1a cell expansion but was not sufficient to account for the pathology in B6.lpr mice. This study was designed to map the additional Sle2c1 loci responsible for autoimmune pathology when co-expressed with CD95 deficiency. The production, fine-mapping and phenotypic characterization of five recombinant intervals indicated that three interacting sub-loci were responsive for inducting autoimmune pathogenesis in B6.lpr mice. One of these sub-loci corresponds most likely to p18-deficiency. Another major locus mapping to a 2 Mb region at the telomeric end of Sle2c1 is necessary to both renal and skin pathology. Finally, a third locus centromeric to p18 enhances the severity of lupus nephritis. These results provide new insights into the genetic interactions leading to SLE disease presentation, and represent a major step towards the identification of novel susceptibility genes involved in T-cell mediated organ damage. PMID:23698709

Glucose-6-phosphate dehydrogenase deficiency in northern Mexico ...

Indian Academy of Sciences (India)

screening, in which the haplotype analysis was performed. Group B .... Thr65 in the native structure of human G6PD, the same protein .... this mutation has a very low frequency in the Mexican popu- lation, we can predict a significant health impact in the males .... genase deficiency: a systematic review and meta-analysis.

Simultaneous occurrence of hereditary C6 and C2 deficiency in a French-Canadian family.

Science.gov (United States)

Delâge, J M; Lehner-Netsch, G; Lafleur, R; Simard, J; Brun, G; Prochazka, E

1979-06-01

The sera of four sisters were found to lack the sixth component of complement (C6) and the serum of one was also partially deficient in the second component (C2). Two other blood relatives were found to be heterozygous for both deficiencies, while only one sibling had normal values. The father of these eight siblings was heterozygous for C2D and C6D and in the third generation, six children were heterozygous for C6 deficiency was treated for chronic active brucel-transmitted; the C6 deficiency was not linked to the HLA system, while the C2-deficiency segregated with the haplotype A10,B18. The proband, homozygous for C6 deficiency was treated for chronic active Brucellosis and in another sibling with C6 deficiency, toxoplasmosis was diagnosed. Neither bleeding disorders nor a tendency to collagen diseases have been observed and the opsonic activity was normal in the sera of all family members.

Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in patients ...

African Journals Online (AJOL)

This is a study of Glucose-6-phosphate dehydrogenase(G6PD) deficiency in sickle cell anaemia patients attending the haematology clinic of the Jos University Teaching Hospital (JUTH), Jos- Nigeria. The prevalence of G6PD deficiency among the 130 sickle cell anaemia patients studied was found to be 18.5%. G6PD ...

Vitamin B-12 supplementation during pregnancy and early lactation increases maternal, breast milk, and infant measures of vitamin B-12 status.

Science.gov (United States)

Duggan, Christopher; Srinivasan, Krishnamachari; Thomas, Tinku; Samuel, Tinu; Rajendran, Ramya; Muthayya, Sumithra; Finkelstein, Julia L; Lukose, Ammu; Fawzi, Wafaie; Allen, Lindsay H; Bosch, Ronald J; Kurpad, Anura V

2014-05-01

Pregnant women in resource-poor areas are at risk of multiple micronutrient deficiencies, and indicators of low vitamin B-12 status have been associated with adverse pregnancy outcomes, including anemia, low birth weight, and intrauterine growth retardation. To evaluate whether daily oral vitamin B-12 supplementation during pregnancy increases maternal and infant measures of vitamin B-12 status, we performed a randomized, placebo-controlled clinical trial. Pregnant women vitamin B-12 (50 μg) or placebo through 6 wk postpartum. All women were administered iron and folic acid supplements throughout pregnancy. One hundred eighty-three women were randomly assigned to receive vitamin B-12 and 183 to receive placebo. Compared with placebo recipients, vitamin B-12-supplemented women had significantly higher plasma vitamin B-12 concentrations at both the second (median vitamin B-12 concentration: 216 vs. 111 pmol/L, P vitamin B-12 concentration was 136 pmol/L in vitamin B-12-supplemented women vs. 87 pmol/L in the placebo group (P vitamin B-12-supplemented women, the incidence of delivering an infant with intrauterine growth retardation was 33 of 131 (25%) vs. 43 of 125 (34%) in those administered placebo (P = 0.11). In a subset of infants tested at 6 wk of age, median plasma vitamin B-12 concentration was 199 pmol/L in those born to supplemented women vs. 139 pmol/L in the placebo group (P = 0.01). Infant plasma methylmalonic acid and homocysteine concentrations were significantly lower in the vitamin B-12 group as well. Oral supplementation of urban Indian women with vitamin B-12 throughout pregnancy and early lactation significantly increases vitamin B-12 status of mothers and infants. It is important to determine whether there are correlations between these findings and neurologic and metabolic functions. This trial was registered at clinicaltrials.gov as NCT00641862.

G6PD Deficiency in an HIV Clinic Setting in the Dominican Republic

Science.gov (United States)

Xu, Julia Z.; Francis, Richard O.; Lerebours Nadal, Leonel E.; Shirazi, Maryam; Jobanputra, Vaidehi; Hod, Eldad A.; Jhang, Jeffrey S.; Stotler, Brie A.; Spitalnik, Steven L.; Nicholas, Stephen W.

2015-01-01

Because human immunodeficiency virus (HIV)-infected patients receive prophylaxis with oxidative drugs, those with glucose-6-phosphate dehydrogenase (G6PD) deficiency may experience hemolysis. However, G6PD deficiency has not been studied in the Dominican Republic, where many individuals have African ancestry. Our objective was to determine the prevalence of G6PD deficiency in Dominican HIV-infected patients and to attempt to develop a cost-effective algorithm for identifying such individuals. To this end, histories, chart reviews, and G6PD testing were performed for 238 consecutive HIV-infected adult clinic patients. The overall prevalence of G6PD deficiency (8.8%) was similar in males (9.3%) and females (8.5%), and higher in Haitians (18%) than Dominicans (6.4%; P = 0.01). By logistic regression, three clinical variables predicted G6PD status: maternal country of birth (P = 0.01) and a history of hemolysis (P = 0.01) or severe anemia (P = 0.03). Using these criteria, an algorithm was developed, in which a patient subset was identified that would benefit most from G6PD screening, yielding a sensitivity of 94.7% and a specificity of 97.2%, increasing the pretest probability (8.8–15.1%), and halving the number of patients needing testing. This algorithm may provide a cost-effective strategy for improving care in resource-limited settings. PMID:26240158

Glucose 6 phosphate dehydrogenase deficiency in adults

International Nuclear Information System (INIS)

Khan, M.

2004-01-01

Objective: To determine the frequency of glucose-6-phosphate dehydrogenase (G6PD) deficiency in adults presented with anemia. Subjects and Methods: Eighteen months admission data was reviewed for G6PD deficiency as a cause of anemia. Anemia was defined by world health organization (WHO) criteria as haemoglobin less than 11.3 gm%. G6PD activity was measured by Sigma dye decolorisation method. All patients were screened for complications of hemolysis and its possible cause. Patients with more than 13 years of age were included in the study. Results: Out of 3600 patients admitted, 1440 were found anaemic and 49 as G6PD deficient. So the frequency of G6PD deficiency in anaemic patients was 3.4% and the overall frequency is 1.36%. G6PD deficiency among males and females was three and six percent respectively. Antimalarials and antibiotics containing sulphonamide group were the most common precipitating factors for hemolysis. Anemia and jaundice were the most common presentations while malaria was the most common associated disease. Acute renal failure was the most severe complication occurring in five patients with two deaths. Conclusion: G6PD deficiency is a fairly common cause of anemia with medicine as common precipitating factor for hemolysis. Such complications can be avoided with early recognition of the disease and avoiding indiscriminate use of medicine. (author)

High Prevalence of Vitamin B12 Deficiency and No Folate Deficiency in Young Children in Nepal

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Bernadette N. Ng’eno

2017-01-01

Full Text Available Many children in low- and middle-income countries may have inadequate intake of vitamin B12 and folate; data confirming these inadequacies are limited. We used biochemical, demographic, behavioral and anthropometric data to describe the folate and vitamin B12 concentrations among six- to 23-month-old Nepalese children. Vitamin B12 (serum B12 < 150 pmol/L and folate deficiencies (red blood cell (RBC folate < 226.5 nmol/L were assessed. We used logistic regression to identify predictors of vitamin B12 deficiency. The vitamin B12 geometric mean was 186 pmol/L; 30.2% of children were deficient. The mean RBC folate concentration was 13,612 nmol/L; there was no deficiency. Factors associated with vitamin B12 deficiency included: (a age six to 11 months (adjusted odds ratio (aOR 1.51; 95% confidence interval (CI: 1.18, 1.92 or 12–17 months (aOR 1.38; 95% CI: 1.10, 1.72 compared to 18–23 months; (b being stunted (aOR 1.24; 95% CI: 1.03, 1.50 compared to not being stunted; (c and not eating animal-source foods (aOR 1.85; 95% CI: 1.42, 2.41 compared to eating animal-source foods the previous day. There was a high prevalence of vitamin B12 deficiency, but no folate deficiency. Improving early feeding practices, including the consumption of rich sources of vitamin B12, such as animal-source foods and fortified foods, may help decrease deficiency.

Haematinic deficiency and macrocytosis in middle-aged and older adults.

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Therese McNamee

Full Text Available OBJECTIVE: To assess the prevalence and determinants of haematinic deficiency (lack of B12 folate or iron and macrocytosis in blood from a national population-based study of middle-aged and older adults. METHODS: A cross-sectional study involving 1,207 adults aged ≥45 years, recruited from a sub-study of the Irish National Survey of Lifestyle Attitudes and Nutrition (SLÁN 2007. Participants completed a health and lifestyle questionnaire and a standard food frequency questionnaire. Non-fasting blood samples were obtained for measurement of full blood count and expert morphological assessment, serum ferritin, soluble transferrin receptor assay (sTfR, B12, folate and coeliac antibodies. Blood samples were also assayed for thyroid function (T4, TSH, liver function, aminotransferase (AST and gamma-glutamyl transferase (GGT. RESULTS: The overall prevalence (95% C.I. of anaemia (Hb 21 nmol/ml only 2.3% were iron-deficient. 3.0% and 2.7% were found to have low levels of serum folate (99fl was detected in 8.4% of subjects. Strong, significant and independent associations with macrocytosis were observed for lower social status, current smoking status, moderate to heavy alcohol intake, elevated GGT levels, deficiency of folate and vitamin B12, hypothyroidism and coeliac disease. The population attributable fraction (PAF for macrocytosis associated with elevated GGT (25.0% and smoking (24.6% was higher than for excess alcohol intake (6.3%, folate deficiency (10.5% or vitamin B12 (3.4%. CONCLUSIONS: Haematinic deficiency and macrocytosis are common in middle-aged/older adults in Ireland. Macrocytosis is more likely to be attributable to an elevated GGT and smoking than vitamin B12 or folate deficiency.

Vitamin B6, cancer and irradiation studies over a period of 25 years

International Nuclear Information System (INIS)

Ladner, H.A.

1985-01-01

The work of Langendorff et collab. and our own results underlined the significance of Vitamin B 6 deficiency in radiation-induced responses and processes following whole-body exposure. Novel biochemical methods allowed to confirm Vitamin B 6 deficiency both during local radiotherapy and in patients with progressed cancer stages. This biochemical Vitamin B 6 deficiency was removed in patients with gynaecological tumours by administration of Vitamin B 6 (Pyridoxine, 300 mg/d) during radiotherapy. Results obtained from over 5,000 female patients revealed that combined radiotherapy (intracavitary Curie irradiation and external high voltage irradiation) not only was tolerated much better according to patients' self-ratings but also that long-term results (5 year healing rate) was improved by pyridoxine administered during radiotherapy. Based on these results we recommend vitamin B 6 (pyridoxine) to be administered additionally as a radiation protection substance during radiotherapy. (orig.) [de

Vitamin B12 deficiency presenting as acute ataxia.

Science.gov (United States)

Crawford, John Ross; Say, Daphne

2013-03-26

A previously healthy 7-year-old Caucasian boy was hospitalised for evaluation of acute ataxia and failure to thrive, initially suspicious for an intracranial mass. Weight and body mass index were below the third percentile and he demonstrated loss of joint position and vibratory sense on examination. Laboratory studies revealed megaloblastic anaemia while an initial MRI of the brain showed no evidence of mass lesions or other abnormalities. A dietary history revealed the child subscribed to a restrictive vegan diet with little to no intake of animal products or other fortified foods. The child was diagnosed with presumed vitamin B12 deficiency and was treated with intramuscular B12 injections. Neurological symptoms resolved promptly within several days after starting therapy. This case underlines the importance of assessing nutritional status in the evaluation of neurological dysfunction in the pediatric patient.

Prevalence of childhood Riboflavin deficiency and nutritional status; a study in rural area in Kerman province

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Tabatabai Sh

2007-07-01

Full Text Available Background: The incidence of riboflavin deficiency is high in women and children in developing countries and the deficiency almost invariably occurs in combination with deficiencies of other water soluble vitamins. The objective of this study was the assessment of riboflavin status of rural school children in Kerman province and its relationship with riboflavin, protein and energy intake. Methods: In this cross-sectional study, 327 primary school children were randomly selected by the stratified multistage cluster sampling method. Variables for classifications were sex and socio-economic status (according to the educational level. This study was conducted by the Department of Nutrition and Biochemistry of School of Public Health in Tehran University in the winter of 2001. A twenty-four hour recall questionnaire was completed by and 5 cc of venous blood was taken from each student. Riboflavin status was assessed by measuring the glutathione reductase activity coefficient (EGR – AC of the red blood cells. Chi-Square and Pearson’s correlation coefficient tests were used to determine correlations. Student’s t–test was used to show the differences in the mean of EGR – AC between the classifications of independent factors. Results: The relationship between riboflavin status and its independent variables including the status of riboflavin, protein and calorie intake were assessed. Outputs of the study indicated that 39.7% of the boys and 43.6% of the girls (41.8% together were marginally riboflavin deficient. Furthermore, 37.7% of the boys, 33.4% of the girls (35.4% together were frankly riboflavin deficient. An average of 67.2% of the children (70.1% boys, 63.7% girls had enough intake of riboflavin, and 76.2% of the children (79.9%, boys, 72.5% girls had adequate intake of protein. However, only 22% of the children (24.5% boys, 19.3% girls had sufficient caloric intake. Outputs of this dietary evaluation reveal that there is a relationship

Short-Term Vitamin B-6 Restriction Does Not Affect Plasma Concentrations of Hydrogen Sulfide Biomarkers Lanthionine and Homolanthionine in Healthy Men and Women.

Science.gov (United States)

DeRatt, Barbara N; Ralat, Maria A; Gregory, Jesse F

2016-03-09

Suboptimal vitamin B-6 status is associated with increased cardiovascular disease risk, although the mechanism is unknown. The synthesis of the vasodilator hydrogen sulfide occurs through side reactions of the transsulfuration enzymes cystathionine β-synthase and cystathionine γ-lyase, with pyridoxal 5'-phosphate as a coenzyme. Two proposed hydrogen sulfide biomarkers, lanthionine and homolanthionine, are produced concurrently. To determine whether hydrogen sulfide production is reduced by vitamin B-6 deficiency, we examined the relations between plasma concentrations of lanthionine and homolanthionine, along with other components of the transsulfuration pathway (homocysteine, cystathionine, and Cys), in a secondary analysis of samples from 2 vitamin B-6 restriction studies in healthy men and women. Metabolite concentrations were measured in plasma from 23 healthy adults (12 men and 11 women) before and after 28-d controlled dietary vitamin B-6 restriction (0.37 ± 0.04 mg/d). Vitamin B-6 restriction effects on lanthionine and homolanthionine concentrations were assessed. Associations between hydrogen sulfide biomarkers, transsulfuration metabolites, and functional indicators of vitamin B-6 deficiency were analyzed by linear regression. Preprandial plasma lanthionine and homolanthionine concentrations ranged from 89.0 to 372 nmol/L and 5.75 to 32.3 nmol/L, respectively, in healthy adults. Mean lanthionine and homolanthionine concentrations were not affected by vitamin B-6 restriction (P restriction, homolanthionine was positively associated with functional indicators of vitamin B-6 deficiency, which differed from hypothesized negative associations. Plasma lanthionine was positively correlated with the concentration of its precursor, Cys, before (R 2 = 0.36; P = 0.002) and after (R 2 = 0.37; P = 0.002) restriction. Likewise, homolanthionine concentration was positively correlated with its precursor homocysteine, but only in vitamin B-6 adequacy (R 2 = 0.41; P

The Relationship of Vitamin B12 Deficiency and Red Cell Distribution Width-Platelet Ratio

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Nigar Yilmaz

2016-09-01

Full Text Available Objective: We aimed to investigate the relationship between vitamin B12 deficiency and red cell distribution widthplatelet ratio (RPR, and the variations in the parameters on vitamin B12 treatment. Methods: One hundred fifty-four patients with untreated vitamin B12 deficiency (56% men, mean age: 50 ± 12.7 years (untreated group, 86 patients with vitamin B12 deficiency (62% men, mean age: 42 ± 20.7 years on vitamin B12 treatment (treated group, and 92 age- and sex-matched control group (54% men, mean age: 45 ± 15.1 years were included in the study. Hematological parameters were evaluated by the method of laser-based flow cytometric impedance, using an automated blood cell counter (ABX Pentra 120 Hematology Blood Analyzer. Results: RPR was significantly reduced in treated group compared with untreated group (4.88 ± 1.06; 6.13 ± 1.27; p0.05. Conclusion: We proposed that vitamin B12 deficiency has effects on RPR and supplementation with vitamin B12 corrects the RPR levels. J Clin Exp Invest 2016; 7 (3: 211-215

Restoring balance to B cells in ADA deficiency.

Science.gov (United States)

Luning Prak, Eline T

2012-06-01

It is paradoxical that immunodeficiency disorders are associated with autoimmunity. Adenosine deaminase (ADA) deficiency, a cause of X-linked severe combined immunodeficiency (SCID), is a case in point. In this issue of the JCI, Sauer and colleagues investigate the B cell defects in ADA-deficient patients. They demonstrate that ADA patients receiving enzyme replacement therapy had B cell tolerance checkpoint defects. Remarkably, gene therapy with a retrovirus that expresses ADA resulted in the apparent correction of these defects, with normalization of peripheral B cell autoantibody frequencies. In vitro, agents that either block ADA or overexpress adenosine resulted in altered B cell receptor and TLR signaling. Collectively, these data implicate a B cell-intrinsic mechanism for alterations in B cell tolerance in the setting of partial ADA deficiency that is corrected by gene therapy.

Association of vitamin B-6 status with inflammation, oxidative stress, and chronic inflammatory conditions: the Boston Puerto Rican Health Study

Science.gov (United States)

Background: Low vitamin B-6 status has been linked to an increased risk of cardiovascular diseases. The cardioprotective effects of vitamin B-6 independent of homocysteine suggest that additional mechanisms may be involved. Objective: Our objective was to examine the cross-sectional association of ...

A novel homozygous mutation IVS6+5G>T in CYP11B1 gene in a Vietnamese patient with 11β-hydroxylase deficiency.

Science.gov (United States)

Nguyen, Thi Phuong Mai; Nguyen, Thu Hien; Ngo, Diem Ngoc; Vu, Chi Dung; Nguyen, Thi Kim Lien; Nong, Van Hai; Nguyen, Huy Hoang

2015-07-10

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease which is characterized by a deficiency of one of the enzymes involved in the synthesis of cortisol from cholesterol by the adrenal cortex. CAH cases arising from impaired 11β-hydroxylase are the second most common form. Mutations in the CYP11B1 gene are the cause of 11β-hydroxylase deficiency. This study was performed on a patient with congenital adrenal hyperplasia and with premature development such as enlarged penis, muscle development, high blood pressure, and bone age equivalent of 5 years old at 2 years of chronological age. Biochemical tests for steroids confirmed the diagnosis of CAH. We used PCR and sequencing to screen for mutations in CYP11B1 gene. Results showed that the patient has a novel homozygous mutation of guanine (G) to thymine (T) in intron 6 (IVS6+5G>T). The analysis of this mutation by MaxEntScan boundary software indicated that this mutant could affect the gene splicing during transcription. Copyright © 2015 Elsevier B.V. All rights reserved.

Short-Term Vitamin B-6 Restriction Does Not Affect Plasma Concentrations of Hydrogen Sulfide Biomarkers Lanthionine and Homolanthionine in Healthy Men and Women123

Science.gov (United States)

DeRatt, Barbara N; Ralat, Maria A; Gregory, Jesse F

2016-01-01

Background: Suboptimal vitamin B-6 status is associated with increased cardiovascular disease risk, although the mechanism is unknown. The synthesis of the vasodilator hydrogen sulfide occurs through side reactions of the transsulfuration enzymes cystathionine β-synthase and cystathionine γ-lyase, with pyridoxal 5′-phosphate as a coenzyme. Two proposed hydrogen sulfide biomarkers, lanthionine and homolanthionine, are produced concurrently. Objective: To determine whether hydrogen sulfide production is reduced by vitamin B-6 deficiency, we examined the relations between plasma concentrations of lanthionine and homolanthionine, along with other components of the transsulfuration pathway (homocysteine, cystathionine, and Cys), in a secondary analysis of samples from 2 vitamin B-6 restriction studies in healthy men and women. Methods: Metabolite concentrations were measured in plasma from 23 healthy adults (12 men and 11 women) before and after 28-d controlled dietary vitamin B-6 restriction (0.37 ± 0.04 mg/d). Vitamin B-6 restriction effects on lanthionine and homolanthionine concentrations were assessed. Associations between hydrogen sulfide biomarkers, transsulfuration metabolites, and functional indicators of vitamin B-6 deficiency were analyzed by linear regression. Results: Preprandial plasma lanthionine and homolanthionine concentrations ranged from 89.0 to 372 nmol/L and 5.75 to 32.3 nmol/L, respectively, in healthy adults. Mean lanthionine and homolanthionine concentrations were not affected by vitamin B-6 restriction (P restriction, homolanthionine was positively associated with functional indicators of vitamin B-6 deficiency, which differed from hypothesized negative associations. Plasma lanthionine was positively correlated with the concentration of its precursor, Cys, before (R2 = 0.36; P = 0.002) and after (R2 = 0.37; P = 0.002) restriction. Likewise, homolanthionine concentration was positively correlated with its precursor homocysteine, but only in

Lhermitte's sign and vitamin B12 deficiency: case report

OpenAIRE

Teive, Hélio Afonso Ghizoni; Haratz, Salo; Zavala, Jorge; Munhoz, Renato Puppi; Scola, Rosana Hermínia; Werneck, Lineu César

2009-01-01

CONTEXT AND OBJECTIVE: Lhermitte's sign, a classical neurological sign, is a rare manifestation of vitamin B12 deficiency. The aim here was to report on a case of an elderly patient with vitamin B12 deficiency whose first clinical manifestation was the presence of Lhermitte's sign. CASE REPORT: We describe an elderly patient with vitamin B12 deficiency who presented cognitive dysfunction, peripheral polyneuropathy and sensory ataxia, and whose first clinical manifestation was the presence of ...

Vitamin B-12 Deficiency in Children Is Associated with Grade Repetition and School Absenteeism, Independent of Folate, Iron, Zinc, or Vitamin A Status Biomarkers.

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Duong, Minh-Cam; Mora-Plazas, Mercedes; Marín, Constanza; Villamor, Eduardo

2015-07-01

Micronutrients are essential to neurocognitive development; yet their role in educational outcomes is unclear. We examined the associations of micronutrient status biomarkers with the risk of grade repetition and rates of school absenteeism in a cohort of school children. We recruited 3156 children aged 5-12 y from public schools in Bogota, Colombia. Circulating ferritin, hemoglobin, zinc, vitamin A, and vitamin B-12; erythrocyte folate; and mean corpuscular volume (MCV) were measured in blood samples obtained at the beginning of the year. Absenteeism was recorded weekly during the school year, and grade repetition was determined the next year. Risk ratios for grade repetition and rate ratios for absenteeism were estimated by categories of micronutrient status indicators with use of Poisson regression, adjusting for potential confounders. The risk of grade repetition was 4.9%, and the absenteeism rate was 3.8 d per child-year of observation. Vitamin B-12 deficiency (educational outcomes and neurocognitive development of school children need to be determined in intervention studies. © 2015 American Society for Nutrition.

Status of Vitamin B12 and Folate among the Urban Adult Population in South India.

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Sivaprasad, M; Shalini, T; Balakrishna, N; Sudarshan, M; Lopamudra, P; Suryanarayana, P; Arlappa, N; Ravikumar, B P; Radhika, M S; Reddy, G Bhanuprakash

2016-01-01

Deficiency of vitamin B12 (B12) and folate (FA) leads to a wide spectrum of disorders that affect all age groups. However, reports on B12 and FA status in healthy adults in India are limited. Hence, we determined the plasma levels and dietary intake of B12 and FA in the adult population. We conducted a community-based cross-sectional study in an urban setup among 630 apparently healthy adults distributed into 3 age groups: 21-40, 41-60 and >60 years. Plasma concentrations of B12 and FA were analyzed by radio immunoassay and dietary intake by 24-hour recall method. The overall prevalence of FA deficiency was 12%, but there was no significant difference in plasma FA concentrations among the groups. While the overall prevalence of B12 deficiency was 35%, it was significantly higher in the 21-40 (44%) and 41-60 age groups (40%) when compared with the >60 group (30%). B12 deficiency was higher in vegetarians (54%) compared to those consuming mixed diet (31%), and the reverse was the case with FA. However, the dietary intakes of FA and B12 were not significantly different among the groups. These results indicate a higher prevalence of B12 deficiency in apparently healthy adults in an urban setup. © 2015 S. Karger AG, Basel.

Glucose-6-phosphatase deficiency

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Labrune Philippe

2011-05-01

Full Text Available Abstract Glucose-6-phosphatase deficiency (G6P deficiency, or glycogen storage disease type I (GSDI, is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients. The disease commonly manifests, between the ages of 3 to 4 months by symptoms of hypoglycemia (tremors, seizures, cyanosis, apnea. Patients have poor tolerance to fasting, marked hepatomegaly, growth retardation (small stature and delayed puberty, generally improved by an appropriate diet, osteopenia and sometimes osteoporosis, full-cheeked round face, enlarged kydneys and platelet dysfunctions leading to frequent epistaxis. In addition, in GSDIb, neutropenia and neutrophil dysfunction are responsible for tendency towards infections, relapsing aphtous gingivostomatitis, and inflammatory bowel disease. Late complications are hepatic (adenomas with rare but possible transformation into hepatocarcinoma and renal (glomerular hyperfiltration leading to proteinuria and sometimes to renal insufficiency. GSDI is caused by a dysfunction in the G6P system, a key step in the regulation of glycemia. The deficit concerns the catalytic subunit G6P-alpha (type Ia which is restricted to expression in the liver, kidney and intestine, or the ubiquitously expressed G6P transporter (type Ib. Mutations in the genes G6PC (17q21 and SLC37A4 (11q23 respectively cause GSDIa and Ib. Many mutations have been identified in both genes,. Transmission is autosomal recessive. Diagnosis is based on clinical presentation, on abnormal basal values and absence of hyperglycemic response to glucagon. It can be confirmed by demonstrating a deficient activity of a G6P system component in a liver biopsy. To date, the diagnosis is most

Gastric emptying in patients with vitamin B12 deficiency

International Nuclear Information System (INIS)

Yagci, Muenci; Yamac, Kadri; Acar, Kadir; Haznedar, Rauf; Cingi, Elif; Kitapci, Mehmet

2002-01-01

The clinical presentation of patients with vitamin B 12 deficiency varies in a spectrum ranging from haematological disorders to neuropsychiatric diseases. In rare cases, orthostatic hypotension, impotence, constipation and urinary retention have been attributed to autonomic nervous system dysfunction due to vitamin B 12 deficiency. The aim of this study was to evaluate the effect of vitamin B 12 deficiency on autonomic nervous system function by studying gastric emptying times (T 1/2 ). Twenty patients with newly diagnosed vitamin B 12 deficiency and 12 control patients with gastritis and normal vitamin B 12 levels were enrolled in this study. Gastroduodenoscopy, endoscopic biopsy, histopathological evaluation of the biopsy specimens and radionuclide gastric emptying studies were performed. After vitamin B 12 replacement therapy for 3 months, radionuclide gastric emptying studies were repeated. Mean gastric emptying T 1/2 in patients before and after treatment and in controls were 103.83±48.80 min, 90.00±17.29 min and 74.55±8.52 min, respectively. The difference in mean gastric emptying T 1/2 between patients before treatment and controls was statistically significant (P 12 treatment (P 1/2 was somewhat shorter. There were no positive or negative correlations between gastric emptying T 1/2 and the following parameters: haemoglobin, vitamin B 12 level and Helicobacter pylori positivity. In conclusion, gastric emptying T 1/2 was prolonged in patients with vitamin B 12 deficiency and this prolongation was not corrected after vitamin B 12 replacement therapy. Although autonomic nervous system dysfunction due to vitamin B 12 deficiency rarely gives rise to clinical manifestations, latent dysfunction demonstrated by laboratory tests seems to be a frequent phenomenon. The level of vitamin B 12 does not correlate with the degree of autonomic nervous system dysfunction measured by radionuclide gastric emptying studies. (orig.)

Genetics Home Reference: glucose-6-phosphate dehydrogenase deficiency

Science.gov (United States)

... deficiency Encyclopedia: Glucose-6-phosphate dehydrogenase test Encyclopedia: Hemolytic anemia Encyclopedia: Newborn jaundice Health Topic: Anemia Health Topic: G6PD Deficiency Health Topic: Newborn Screening Genetic and Rare Diseases Information Center (1 link) Glucose-6-phosphate dehydrogenase ...

Chronic transgenerational vitamin B12 deficiency of severe and moderate magnitudes modulates adiposity-probable underlying mechanisms.

Science.gov (United States)

Ghosh, Shampa; Sinha, Jitendra Kumar; Muralikrishna, Bojanapalli; Putcha, Uday Kumar; Raghunath, Manchala

2017-05-06

We have demonstrated previously that severe but not moderate vitamin B12 deficiency altered body composition and induced adiposity in female C57BL/6 mice. This study aims to elucidate the effects of chronic transgenerational dietary vitamin B12 restriction on body composition and various biochemical parameters in the F1 generation offspring of our mouse models of severe and moderate vitamin B12 deficiency established earlier. Female weanling C57BL/6 mice received, ad libitum, for 4 weeks a (i) control diet, (ii) vitamin B12-restricted diet with pectin as dietary fiber (severely deficient diet), or (iii) vitamin B12-restricted diet with cellulose as dietary fiber (moderately deficient diet) and then mated with control males. The offspring of control and severely deficient dams continued on the respective diets of their mothers. Few moderately deficient dams were rehabilitated to control diet from parturition and their pups were weaned to control diet. Also, some offspring born to moderately B12 deficient dams were weaned to control diet, while others continued on the same diet as their mothers. Various parameters were determined in the F1 offspring after 12 and 36 weeks of feeding. The results indicate that both severe and moderate maternal vitamin B12 restrictions were associated with accelerated catch-up growth, increased body fat percentage, visceral adiposity, dyslipidemia, fasting hyperglycemia and insulin resistance in the F1 offspring. Inflammation, increased glucocorticoid and oxidative stress and poor antioxidant defence probably underlie these adverse effects. Rehabilitation from parturition but not weaning was beneficial in delaying the onset of the adverse outcomes in the offspring. © 2016 BioFactors, 43(3):400-414, 2017. © 2017 International Union of Biochemistry and Molecular Biology.

G6PD Deficiency (Glucose-6-Phosphate Dehydrogenase) (For Parents)

Science.gov (United States)

... genes from one or both parents to a child. The gene responsible for this deficiency is on the X chromosome. G6PD deficiency is most common in males of African heritage. Many females of African heritage are carriers ...

Prevalence of iron, folate, and vitamin B12 deficiencies in 20 to 49 years old women: Ensanut 2012.

Science.gov (United States)

Shamah-Levy, Teresa; Villalpando, Salvador; Mejía-Rodríguez, Fabiola; Cuevas-Nasu, Lucía; Gaona-Pineda, Elsa Berenice; Rangel-Baltazar, Eduardo; Zambrano-Mujica, Norma

2015-01-01

To describe the prevalence of iron, folate, and B12 deficiencies in Mexican women of reproductive age from the National Health and Nutrition Survey (Ensanut) 2012. Data came from a national probabilistic survey, representative from rural and urban areas, and different age groups. Blood samples were obtained from 4 263, 20 to 49 years old women for serum ferritin, vitamin B12 and serum folate concentrations. The prevalence of deficiencies, was assessed using adjusted logistic regression models. The deficiency of folate was 1.9% (95%CI 1.3-2.8), B12 deficiency was 8.5% (95%CI 6.7-10.1) and iron deficiency was 29.4% (95%CI 26.5-32.2). No differences were found when compared with 2006, 24.8% (95%CI 22.3-27.2). The vitamin B12 deficiency is still a problem for women of reproductive age and their offspring in Mexico, while folate deficiency disappeared as a problem. Iron deficiency needs prevention and fortification strategies.

Biochemical characteristics of glucose-6-phosphate dehydrogenase variants among the Malays of Singapore with report of a new non-deficient (GdSingapore) and three deficient variants.

Science.gov (United States)

Saha, N; Hong, S H; Wong, H A; Jeyaseelan, K; Tay, J S

1991-12-01

Biochemical characteristics of one non-deficient fast G6PD variant (GdSingapore) and six different deficient variants (three new, two Mahidol, one each of Indonesian and Mediterranean) were studied among the Malays of Singapore. The GdSingapore variant had normal enzyme activity (82%) and fast electrophoretic mobilities (140% in TEB buffer, 160% in phosphate and 140% in Tris-HCl buffer systems respectively). This variant is further characterized by normal Km for G6P; utilization of analogues (Gal6P, 2dG6P; dAmNADP), heat stability and pH optimum. The other six deficient G6PD variants had normal electrophoretic mobility in TEB buffer with enzyme activities ranging from 1 to 12% of GdB+. The biochemical characteristics identity them to be 2 Mahidol, 1 Indonesian and 1 Mediterranean variants and three new deficient variants.

Gender-specific effects of endogenous testosterone: female alpha-estrogen receptor-deficient C57Bl/6J mice develop glomerulosclerosis.

Science.gov (United States)

Elliot, S J; Berho, M; Korach, K; Doublier, S; Lupia, E; Striker, G E; Karl, M

2007-08-01

Young female mice on a C57Bl/6J (B6) background are considered glomerulosclerosis (GS)-resistant but aging B6 mice develop mild GS. Estrogen deficiency accelerates while estrogen replacement retards GS in young sclerosis-prone oligosyndactyly mutant mice on an ROP background. To explore the effects of sex hormones on glomerular structure and function in the context of gender and genetic background, we studied mice in which the estrogen-receptor (ER) genes alpha- or -beta were deleted (alpha- or betaER knockout (KO)) and crossed into the B6 background. We also studied ovariectomized (Ovx) B6 mice given testosterone. Male and female betaERKO and male alphaERKO mice had no glomerular dysfunction at 9 months of age; however, alphaERKO female mice displayed albuminuria and GS. Ovx prevented glomerular dysfunction in alphaERKO female mice by eliminating endogenous testosterone production while exogenous testosterone induced GS in Ovx B6 mice. Androgen receptor (AR) expression and function was found in microdissected glomeruli and cultured mesangial cells. Testosterone compared to placebo increased both AR expression and TGF-beta1 mRNA levels in glomeruli isolated from female B6 mice. Estrogen deficiency had no deleterious effects on the glomeruli in B6 mice. Our study shows that genetic traits strongly influence the GS-promoting effects of estrogen deficiency while testosterone induces GS in a gender-specific manner.

effects of Vitamin D deficiency on pregnancy outcomes.

African Journals Online (AJOL)

Cite as: Ates S, Sevket O, Ozcan P, Ozkal F, Kaya MO, Dane B. Vitamin D status in the first-trimester: effects of Vitamin D deficiency ... Vitamin D level is in- fluenced by many factors such as skin pigmentation, use of sunscreen, ethnicity, dress code,, geographic latitude, seasonal variation and use of prenatal vitamins4,5,6,7.

Toward reassessing data-deficient species.

Science.gov (United States)

Bland, Lucie M; Bielby, Jon; Kearney, Stephen; Orme, C David L; Watson, James E M; Collen, Ben

2017-06-01

One in 6 species (13,465 species) on the International Union for Conservation of Nature (IUCN) Red List is classified as data deficient due to lack of information on their taxonomy, population status, or impact of threats. Despite the chance that many are at high risk of extinction, data-deficient species are typically excluded from global and local conservation priorities, as well as funding schemes. The number of data-deficient species will greatly increase as the IUCN Red List becomes more inclusive of poorly known and speciose groups. A strategic approach is urgently needed to enhance the conservation value of data-deficient assessments. To develop this, we reviewed 2879 data-deficient assessments in 6 animal groups and identified 8 main justifications for assigning data-deficient status (type series, few records, old records, uncertain provenance, uncertain population status or distribution, uncertain threats, taxonomic uncertainty, and new species). Assigning a consistent set of justification tags (i.e., consistent assignment to assessment justifications) to species classified as data deficient is a simple way to achieve more strategic assessments. Such tags would clarify the causes of data deficiency; facilitate the prediction of extinction risk; facilitate comparisons of data deficiency among taxonomic groups; and help prioritize species for reassessment. With renewed efforts, it could be straightforward to prevent thousands of data-deficient species slipping unnoticed toward extinction. © 2016 Society for Conservation Biology.

Vitamin B12 among Vegetarians: Status, Assessment and Supplementation

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Gianluca Rizzo

2016-11-01

Full Text Available Cobalamin is an essential molecule for humans. It acts as a cofactor in one-carbon transfers through methylation and molecular rearrangement. These functions take place in fatty acid, amino acid and nucleic acid metabolic pathways. The deficiency of vitamin B12 is clinically manifested in the blood and nervous system where the cobalamin plays a key role in cell replication and in fatty acid metabolism. Hypovitaminosis arises from inadequate absorption, from genetic defects that alter transport through the body, or from inadequate intake as a result of diet. With the growing adoption of vegetarian eating styles in Western countries, there is growing focus on whether diets that exclude animal foods are adequate. Since food availability in these countries is not a problem, and therefore plant foods are sufficiently adequate, the most delicate issue remains the contribution of cobalamin, which is poorly represented in plants. In this review, we will discuss the status of vitamin B12 among vegetarians, the diagnostic markers for the detection of cobalamin deficiency and appropriate sources for sufficient intake, through the description of the features and functions of vitamin B12 and its absorption mechanism.

Vitamin B12 among Vegetarians: Status, Assessment and Supplementation.

Science.gov (United States)

Rizzo, Gianluca; Laganà, Antonio Simone; Rapisarda, Agnese Maria Chiara; La Ferrera, Gioacchina Maria Grazia; Buscema, Massimo; Rossetti, Paola; Nigro, Angela; Muscia, Vincenzo; Valenti, Gaetano; Sapia, Fabrizio; Sarpietro, Giuseppe; Zigarelli, Micol; Vitale, Salvatore Giovanni

2016-11-29

Cobalamin is an essential molecule for humans. It acts as a cofactor in one-carbon transfers through methylation and molecular rearrangement. These functions take place in fatty acid, amino acid and nucleic acid metabolic pathways. The deficiency of vitamin B12 is clinically manifested in the blood and nervous system where the cobalamin plays a key role in cell replication and in fatty acid metabolism. Hypovitaminosis arises from inadequate absorption, from genetic defects that alter transport through the body, or from inadequate intake as a result of diet. With the growing adoption of vegetarian eating styles in Western countries, there is growing focus on whether diets that exclude animal foods are adequate. Since food availability in these countries is not a problem, and therefore plant foods are sufficiently adequate, the most delicate issue remains the contribution of cobalamin, which is poorly represented in plants. In this review, we will discuss the status of vitamin B12 among vegetarians, the diagnostic markers for the detection of cobalamin deficiency and appropriate sources for sufficient intake, through the description of the features and functions of vitamin B12 and its absorption mechanism.

Prevalence of iron, folate, and vitamin B12 deficiencies in 20 to 49 years old women: Ensanut 2012

Directory of Open Access Journals (Sweden)

Teresa Shamah-Levy

2015-09-01

Full Text Available Objective. To describe the prevalence of iron, folate, and B12 deficiencies in Mexican women of reproductive age from the National Health and Nutrition Survey (Ensanut 2012.Materials and methods. Data came from a  ationalprobabilistic survey, representative from rural and urban areas,and different age groups. Blood samples were obtained from 4 263, 20 to 49 years old women for serum ferritin, vitamin B12 and serum folate oncentrations. The prevalence of deficiencies, was assessed using adjusted logistic regression models. Results. The deficiency of folate was 1.9% (95%CI1.3-2.8, B12 deficiency was 8.5% (95%CI 6.7-10.1 and iron deficiency was 29.4% (95%CI 26.5-32.2. No differences were found when compared with 2006, 24.8% (95%CI 22.3-27.2.Conclusions. The vitamin B12 deficiency is still a problem for women of reproductive age and their offspring in Mexico,while folate deficiency disappeared as a problem. Iron deficiency needs prevention and fortification strategies.

Advances in clinical determinants and neurological manifestations of B vitamin deficiency in adults.

Science.gov (United States)

Sechi, GianPietro; Sechi, Elia; Fois, Chiara; Kumar, Neeraj

2016-05-01

B vitamin deficiency is a leading cause of neurological impairment and disability throughout the world. Multiple B vitamin deficiencies often coexist, and thus an understanding of the complex relationships between the different biochemical pathways regulated in the brain by these vitamins may facilitate prompter diagnosis and improved treatment. Particular populations at risk for multiple B vitamin deficiencies include the elderly, people with alcoholism, patients with heart failure, patients with recent obesity surgery, and vegetarians/vegans. Recently, new clinical settings that predispose individuals to B vitamin deficiency have been highlighted. Moreover, other data indicate a possible pathogenetic role of subclinical chronic B vitamin deficiency in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. In light of these findings, this review examines the clinical manifestations of B vitamin deficiency and the effect of B vitamin deficiency on the adult nervous system. The interrelationships of multiple B vitamin deficiencies are emphasized, along with the clinical phenotypes related to B vitamin deficiencies. Recent advances in the clinical determinants and diagnostic clues of B vitamin deficiency, as well as the suggested therapies for B vitamin disorders, are described. © The Author(s) 2016. Published by Oxford University Press on behalf of the International Life Sciences Institute. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Metabolite profile analysis reveals functional effects of 28-day vitamin B-6 restriction on one-carbon metabolism and tryptophan catabolic pathways in healthy men and women.

Science.gov (United States)

da Silva, Vanessa R; Rios-Avila, Luisa; Lamers, Yvonne; Ralat, Maria A; Midttun, Øivind; Quinlivan, Eoin P; Garrett, Timothy J; Coats, Bonnie; Shankar, Meena N; Percival, Susan S; Chi, Yueh-Yun; Muller, Keith E; Ueland, Per Magne; Stacpoole, Peter W; Gregory, Jesse F

2013-11-01

Suboptimal vitamin B-6 status, as reflected by low plasma pyridoxal 5'-phosphate (PLP) concentration, is associated with increased risk of vascular disease. PLP plays many roles, including in one-carbon metabolism for the acquisition and transfer of carbon units and in the transsulfuration pathway. PLP also serves as a coenzyme in the catabolism of tryptophan. We hypothesize that the pattern of these metabolites can provide information reflecting the functional impact of marginal vitamin B-6 deficiency. We report here the concentration of major constituents of one-carbon metabolic processes and the tryptophan catabolic pathway in plasma from 23 healthy men and women before and after a 28-d controlled dietary vitamin B-6 restriction (restriction yielded increased cystathionine (53% pre- and 76% postprandial; P restriction yielded lower kynurenic acid (22% pre- and 20% postprandial; P restriction and multilevel partial least squares-discriminant analysis supported this conclusion. Thus, plasma concentrations of creatine, cystathionine, kynurenic acid, and 3-hydroxykynurenine jointly reveal effects of vitamin B-6 restriction on the profiles of one-carbon and tryptophan metabolites and serve as biomarkers of functional effects of marginal vitamin B-6 deficiency.

Features and outcomes of malaria infection in glucose-6-phosphatedehydrogenase normal and deficient Nigerian children

OpenAIRE

Adebola Emmanuel Orimadegun; Olugbemiro Sodeinde

2014-01-01

Background & objectives: Malaria and G6PD deficiency-related haemolyses are known causes of hospital admissions in Nigeria and pose great danger to child survival but data on interactions of these two pathologies are scarce. This study was carried out to determine the association between features of Plasmodium falciparum infection and G6PD status. Methods: G6PD and haemoglobin were typed by fluorescent spot test and electrophoresis respectively, in 1120 children with microscopically-proven...

Effect of supplementation with a lipid-based nutrient supplement on the micronutrient status of children aged 6-18 months living in the rural region of Intibucá, Honduras.

Science.gov (United States)

Siega-Riz, Anna M; Estrada Del Campo, Yaniré; Kinlaw, Alan; Reinhart, Gregory A; Allen, Lindsay H; Shahab-Ferdows, Setareh; Heck, Jeff; Suchindran, Chirayath M; Bentley, Margaret E

2014-05-01

Lipid-based nutrient supplements (LNS) have been effective in the treatment of acute malnutrition among children. We evaluated the use of LNS supplementation for improving the micronutrient status of young children. A 12-month randomised controlled trial was conducted among children aged 6-18 months living in Intibucá, Honduras. Communities (n = 18) were randomised into clusters matched by poverty indicators (9 intervention, n = 160 and 9 controls, n = 140). Intervention participants received LNS. All children received food vouchers and nutrition education. Primary outcomes included measures of micronutrient status: at baseline, 6 and 12 months' blood were collected for assessment of folate, iron, zinc, riboflavin, and vitamin B12 status; haemoglobin was measured every 3 months; and dietary and anthropometry collected monthly. Longitudinal analyses were based on intent to treat and LNS adherence. Generalised estimating equations were used in the estimation of generalised linear regression models specified for the data. At 6-month follow-up, children in the intervention group had a lower proportion classified as deficient for B12 (43.6%) compared with the control (67.7%; P = 0.03). The intervention group had a higher mean concentration for folate at 6 months (P = 0.06), and improvements continued through 12 months for folate (P = 0.002) and vitamin A deficiency (P = 0.03). This pattern of results, with improved significance, remained in subanalysis based on LNS adherence. These data demonstrate that LNS improved select micronutrient status in young non-malnourished Honduran children. © 2014 John Wiley & Sons Ltd.

CCR6-dependent positioning of memory B cells is essential for their ability to mount a recall response to antigen.

Science.gov (United States)

Elgueta, Raul; Marks, Ellen; Nowak, Elizabeth; Menezes, Shinelle; Benson, Micah; Raman, Vanitha S; Ortiz, Carla; O'Connell, Samuel; Hess, Henry; Lord, Graham M; Noelle, Randolph

2015-01-15

Chemokine-dependent localization of specific B cell subsets within the immune microarchitecture is essential to ensure successful cognate interactions. Although cognate interactions between T cells and memory B cells (B(mem)) are essential for the secondary humoral immune responses, the chemokine response patterns of B(mem) cells are largely unknown. In contrast to naive B cells, this study shows that Ag-specific B(mem) cells have heightened expression of CCR6 and a selective chemotactic response to the CCR6 ligand, CCL20. Although CCR6 appears be nonessential for the initial clonal expansion and maintenance of B(mem), CCR6 is essential for the ability of B(mem) to respond to a recall response to their cognate Ag. This dependency was deemed intrinsic by studies in CCR6-deficient mice and in bone marrow chimeric mice where CCR6 deficiency was limited to the B cell lineage. Finally, the mis-positioning of CCR6-deficient B(mem) was revealed by immunohistological analysis with an altered distribution of CCR6-deficient B(mem) from the marginal and perifollicular to the follicular/germinal center area. Copyright © 2015 by The American Association of Immunologists, Inc.

Prevalence of Vitamin B12 and Folate Deficiencies and ...

African Journals Online (AJOL)

... 2Faculty of Dentistry, International Branch, 3Department of Internal Medicine & Endocrine and ... Keywords: Vitamin B12 deficiency, Folate deficiency, Homocysteinemia, Elderly population ... gastritis, intestinal malabsorption, pancreatic.

Glucose-6-phosphate dehydrogenase deficiency; the single most ...

African Journals Online (AJOL)

Introduction: Glucose- 6-phosphate dehydrogenase deficiency is the most common enzymatic disorder of the red cell and an important risk factor for neonatal jaundice. Methodology: The aim of the study was to determine the incidence of G-6-PD deficiency among jaundiced neonates, and describe the associated morbidity ...

Gastric emptying in patients with vitamin B{sub 12} deficiency

Energy Technology Data Exchange (ETDEWEB)

Yagci, Muenci; Yamac, Kadri; Acar, Kadir; Haznedar, Rauf [Department of Hematology, Gazi Medical School (Turkey); Cingi, Elif; Kitapci, Mehmet [Department of Nuclear Medicine, Gazi Medical School (Turkey)

2002-09-01

The clinical presentation of patients with vitamin B{sub 12} deficiency varies in a spectrum ranging from haematological disorders to neuropsychiatric diseases. In rare cases, orthostatic hypotension, impotence, constipation and urinary retention have been attributed to autonomic nervous system dysfunction due to vitamin B{sub 12} deficiency. The aim of this study was to evaluate the effect of vitamin B{sub 12} deficiency on autonomic nervous system function by studying gastric emptying times (T{sub 1/2}). Twenty patients with newly diagnosed vitamin B{sub 12} deficiency and 12 control patients with gastritis and normal vitamin B{sub 12} levels were enrolled in this study. Gastroduodenoscopy, endoscopic biopsy, histopathological evaluation of the biopsy specimens and radionuclide gastric emptying studies were performed. After vitamin B{sub 12} replacement therapy for 3 months, radionuclide gastric emptying studies were repeated. Mean gastric emptying T{sub 1/2} in patients before and after treatment and in controls were 103.83{+-}48.80 min, 90.00{+-}17.29 min and 74.55{+-}8.52 min, respectively. The difference in mean gastric emptying T{sub 1/2} between patients before treatment and controls was statistically significant (P<0.01). The statistically significant difference persisted after vitamin B{sub 12} treatment (P<0.05), though mean gastric emptying T{sub 1/2} was somewhat shorter. There were no positive or negative correlations between gastric emptying T{sub 1/2} and the following parameters: haemoglobin, vitamin B{sub 12} level and Helicobacter pylori positivity. In conclusion, gastric emptying T{sub 1/2} was prolonged in patients with vitamin B{sub 12} deficiency and this prolongation was not corrected after vitamin B{sub 12} replacement therapy. Although autonomic nervous system dysfunction due to vitamin B{sub 12} deficiency rarely gives rise to clinical manifestations, latent dysfunction demonstrated by laboratory tests seems to be a frequent phenomenon

Metabolite Profile Analysis Reveals Functional Effects of 28-Day Vitamin B-6 Restriction on One-Carbon Metabolism and Tryptophan Catabolic Pathways in Healthy Men and Women123

Science.gov (United States)

da Silva, Vanessa R.; Rios-Avila, Luisa; Lamers, Yvonne; Ralat, Maria A.; Midttun, Øivind; Quinlivan, Eoin P.; Garrett, Timothy J.; Coats, Bonnie; Shankar, Meena N.; Percival, Susan S.; Chi, Yueh-Yun; Muller, Keith E.; Ueland, Per Magne; Stacpoole, Peter W.; Gregory, Jesse F.

2013-01-01

Suboptimal vitamin B-6 status, as reflected by low plasma pyridoxal 5′-phosphate (PLP) concentration, is associated with increased risk of vascular disease. PLP plays many roles, including in one-carbon metabolism for the acquisition and transfer of carbon units and in the transsulfuration pathway. PLP also serves as a coenzyme in the catabolism of tryptophan. We hypothesize that the pattern of these metabolites can provide information reflecting the functional impact of marginal vitamin B-6 deficiency. We report here the concentration of major constituents of one-carbon metabolic processes and the tryptophan catabolic pathway in plasma from 23 healthy men and women before and after a 28-d controlled dietary vitamin B-6 restriction (restriction yielded increased cystathionine (53% pre- and 76% postprandial; P restriction yielded lower kynurenic acid (22% pre- and 20% postprandial; P restriction and multilevel partial least squares-discriminant analysis supported this conclusion. Thus, plasma concentrations of creatine, cystathionine, kynurenic acid, and 3-hydroxykynurenine jointly reveal effects of vitamin B-6 restriction on the profiles of one-carbon and tryptophan metabolites and serve as biomarkers of functional effects of marginal vitamin B-6 deficiency. PMID:23966327

Glucose-6-phosphate dehydrogenase deficiency in Singapore.

Science.gov (United States)

Quak, S H; Saha, N; Tay, J S

1996-01-01

Glucose-6-phosphate dehydrogenase (G6PD) in man is an X-linked enzyme. The deficiency of this enzyme is one of the most common inherited metabolic disorders in man. In Singapore, three clinical syndromes associated with G6PD deficiency had been described: severe haemolysis in neonates with kernicterus, haemoglobinuria and "viral hepatitis"-like syndrome. The human G6PD monomer consists of 515 amino acids. Only the tetrameric or dimeric forms composed of a single type subunit are catylitically active. The complete amino acid sequence of G6PD had been elucidated in man and various other animals. The region of high homology among the enzymes of various animals is presumably functionally active. Among the Chinese in Singapore, three common molecular variants had been identified: Canton (nt 1376 G --> T), Kaiping (nt 1388 G --> A) and Mediterranean (nt 563 C --> T) in frequencies of 24%, 21% and 10% respectively. In addition, two common mutants (Gaozhou, nt 95 A --> G and Chinese 5, nt 1024 C --> T) have been detected in Singapore Chinese in low frequencies. In Malays, 6 different deficient variants are known in Singapore (3 new, 1 Mahidol, 1 Indonesian and 1 Mediterranean).

Pyridoxine deficiency in adult patients with status epilepticus.

Science.gov (United States)

Dave, Hina N; Eugene Ramsay, Richard; Khan, Fawad; Sabharwal, Vivek; Irland, Megan

2015-11-01

An 8-year-old girl treated at our facility for superrefractory status epilepticus was found to have a low pyridoxine level at 5 μg/L. After starting pyridoxine supplementation, improvement in the EEG for a 24-hour period was seen. We decided to look at the pyridoxine levels in adult patients admitted with status epilepticus. We reviewed the records on patients admitted to the neurological ICU for status epilepticus (SE). Eighty-one adult patients were identified with documented pyridoxine levels. For comparison purposes, we looked at pyridoxine levels in outpatients with epilepsy (n=132). Reported normal pyridoxine range is >10 ng/mL. All but six patients admitted for SE had low normal or undetectable pyridoxine levels. A selective pyridoxine deficiency was seen in 94% of patients with status epilepticus (compared to 39.4% in the outpatients) which leads us to believe that there is a relationship between status epilepticus and pyridoxine levels. Copyright © 2015 Elsevier Inc. All rights reserved.

Five novel glucose-6-phosphate dehydrogenase deficiency haplotypes correlating with disease severity

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Dallol Ashraf

2012-09-01

Full Text Available Abstract Background Glucose-6-phosphate dehydrogenase (G6PD, EC 1.1.1.49 deficiency is caused by one or more mutations in the G6PD gene on chromosome X. An association between enzyme levels and gene haplotypes remains to be established. Methods In this study, we determined G6PD enzyme levels and sequenced the coding region, including the intron-exon boundaries, in a group of individuals (163 males and 86 females who were referred to the clinic with suspected G6PD deficiency. The sequence data were analysed by physical linkage analysis and PHASE haplotype reconstruction. Results All previously reported G6PD missense changes, including the AURES, MEDITERRANEAN, A-, SIBARI, VIANGCHAN and ANANT, were identified in our cohort. The AURES mutation (p.Ile48Thr was the most common variant in the cohort (30% in males patients followed by the Mediterranean variant (p.Ser188Phe detectable in 17.79% in male patients. Variant forms of the A- mutation (p.Val68Met, p.Asn126Asp or a combination of both were detectable in 15.33% of the male patients. However, unique to this study, several of such mutations co-existed in the same patient as shown by physical linkage in males or PHASE haplotype reconstruction in females. Based on 6 non-synonymous variants of G6PD, 13 different haplotypes (13 in males, 8 in females were identified. Five of these were previously unreported (Jeddah A, B, C, D and E and were defined by previously unreported combinations of extant mutations where patients harbouring these haplotypes exhibited severe G6PD deficiency. Conclusions Our findings will help design a focused population screening approach and provide better management for G6PD deficiency patients.

Hygienic risk assessment of children with somatic health problems associated with vitamin deficiency

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O.J. Ustinova

2015-12-01

Full Text Available A study of the seasonal provision of children attending pre-school organizations that implement the standard artificial diet fortification with vitamins A, C, D, E, В 6 and B 12 was performed. It was found that 75–85 % of children have a yearround vitamin deficiency and 40 % cases have the status of polyhypovitaminose. In autumn and winter the provision of children with vitamins corresponds to the physiological needs, but in the spring months 70 % of children have a deficit in vitamin C, and 15 % – in vitamin A. Even in autumn, every third child has a deficiency in vitamin B6, and every tenth – in vitamin D; in the spring the number of children with insufficient provision of these vitamins increases in 1.8–6.3 times. Half of the children, who attend pre-school organizations, have year-round vitamin B12 deficiency. Deficiency of vitamins up to 3 times increases the risk of developing disorders of physical development of children, dysfunction processes of vascular tone regulation and autonomic reactivity, and the incidence of chronic diseases of children is increased in 1.3–2.2 times.

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

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Larson, Austin A; Balasubramaniam, Shanti; Christodoulou, John; Burrage, Lindsay C; Marom, Ronit; Graham, Brett H; Diaz, George A; Glamuzina, Emma; Hauser, Natalie; Heese, Bryce; Horvath, Gabriella; Mattman, Andre; van Karnebeek, Clara; Lane Rutledge, S; Williamson, Amy; Estrella, Lissette; Van Hove, Johan K L; Weisfeld-Adams, James D

2018-01-04

Elevations of specific acylcarnitines in blood reflect carboxylase deficiencies, and have utility in newborn screening for life-threatening organic acidemias and other inherited metabolic diseases. In this report, we describe a newly-identified association of biochemical features of multiple carboxylase deficiency in individuals harboring mitochondrial DNA (mtDNA) mutations in MT-ATP6 and in whom organic acidemias and multiple carboxylase deficiencies were excluded. Using retrospective chart review, we identified eleven individuals with abnormally elevated propionylcarnitine (C3) or hydroxyisovalerylcarnitine (C5OH) with mutations in MT-ATP6, most commonly m.8993T>G in high heteroplasmy or homoplasmy. Most patients were ascertained on newborn screening; most had normal enzymatic or molecular genetic testing to exclude biotinidase and holocarboxylase synthetase deficiencies. MT-ATP6 is associated with some cases of Leigh disease; clinical outcomes in our cohort ranged from death from neurodegenerative disease in early childhood to clinically and developmentally normal after several years of follow-up. These cases expand the biochemical phenotype associated with MT-ATP6 mutations, especially m.8993T>G, to include acylcarnitine abnormalities mimicking carboxylase deficiency states. Clinicians should be aware of this association and its implications for newborn screening, and consider mtDNA sequencing in patients exhibiting similar acylcarnitine abnormalities that are biotin-unresponsive and in whom other enzymatic deficiencies have been excluded. Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

Iodine deficiency status and iodised salt consumption in Malaysia: findings from a national iodine deficiency disorders survey.

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Selamat, Rusidah; Mohamud, Wan Nazaimoon Wan; Zainuddin, Ahmad Ali; Rahim, Nor Syamlina Che Abdul; Ghaffar, Suhaila Abdul; Aris, Tahir

2010-01-01

A nationwide cross-sectional school-based survey was undertaken among children aged 8-10 years old to determine the current iodine deficiency status in the country. Determination of urinary iodine (UI) and palpation of the thyroid gland were carried out among 18,012 and 18,078 children respectively while iodine test of the salt samples was done using Rapid Test Kits and the iodometric method. The results showed that based on WHO/ ICCIDD/UNICEF criteria, the national median UI was 109 μg/L [25th, 75th percentile (67, 166)] showing borderline adequacy. The overall national prevalence of iodine deficiency disorders (IDD) with UIMalaysia using adequately iodised salt as recommended by Malaysian Food Act 1983 of 20-30 ppm was only 6.8% (95% CI: 5.1, 9.0). In conclusion, although a goitre endemic was not present in Malaysia, almost half of the states in Peninsular Malaysia still have large proportion of UI level review on the current approach of the national IDD prevention and control programme.

Assessment of iron deficiency in pregnant women by determining iron status

International Nuclear Information System (INIS)

Raza, N.; Munazza, B.; Ayub, M.; Sarwar, I

2011-01-01

Background: Pregnant women constitute a high risk group for iron deficiency. Maternal iron deficiency and particularly iron deficiency anaemia may be associated with detrimental effects on maternal and infant function and particularly with a higher risk of preterm delivery and delivery of low birth weight neonates. Objective of this study was to assess and compare the iron status of normal healthy non-pregnant women with that of pregnant women of Hazara Division. Methods: This study was conducted at Faculty of Health Sciences, Hazara University, and Ayub Medical College, Abbottabad from first March to /31 August 2006. Altogether 120 women, 90 pregnant at various stages of pregnancy and 30 non-pregnant women as control group were included in this study by convenience sampling. Their iron status was assessed by determination of haemoglobin (Hb), Serum ferritin, Serum-iron, Total Iron Binding Capacity (TIBC), Unsaturated Iron Binding Capacity (UIBC), and Percentage saturation of transferrin. Data generated on these variables were subjected to ANOVA and correlation analysis. Results: The salient finding of this study is a significant decrease in Hb, Serum ferritin, Serum iron, percentage saturation of transferrin and a significant increase in values of TIBC and a pronounced increase in UIBC in second and third trimester compared to first trimester in iron deficient pregnant women. The mean values of Hb, SF, and Fe/TIBC% were significantly lower in the cases than in the control and significantly higher values of TIBC and UIBC were observed in the cases compared to controls. Significant correlations were observed for TIBC, UIBC and Fe/TIBC% against serum iron in different trimesters of pregnancy. Conclusion: A high percentage of the pregnant women are iron deficient due to factors such as high parity, poor dietary habits and socioeconomic status. (author)

Kawasaki disease with G6PD deficiency--report of one case and literature review.

Science.gov (United States)

Chen, Chia-Hao; Lin, Li-Yan; Yang, Kuender D; Hsieh, Kai-Sheng; Kuo, Ho-Chang

2014-06-01

Kawasaki disease (KD) is a systemic vasculitis primarily affecting children who are younger than 5 years. The most serious complications are coronary artery aneurysms and sequelae of vasculitis with the subsequent development of coronary artery aneurysm. According to the literature, intravenous immunoglobulin (IVIG) plus high-dose aspirin (acetylsalicylic acid) were standard treatment for KD, whereas low-dose aspirin (3-5 mg/kg/day) was used for thrombocytosis in KD via antiplatelet effect. However, aspirin has been reported to have hemolytic potential in individuals with glucose-6-phosphate dehydrogenase (G6PD) deficiency. We report a child with G6PD-deficiency who has KD, and review the literature. Copyright © 2012. Published by Elsevier B.V.

Biological Variability and Impact of Oral Contraceptives on Vitamins B6, B12 and Folate Status in Women of Reproductive Age

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Samir Samman

2013-09-01

Full Text Available Vitamins B6, B12 and folate play crucial metabolic roles especially during the reproductive years for women. There is limited reporting of within-subject variability of these vitamins. This study aimed to determine the within and between subject variability in serum vitamins B6, B12, folate and erythrocyte folate concentrations in young women; identify factors that contribute to variability; and determine dietary intakes and sources of these vitamins. Data were obtained from the control group of a trial aimed at investigating the effect of iron on the nutritional status of young women (age 25.2 ± 4.2 year; BMI 21.9 ± 2.2 kg/m2. The coefficients of variability within-subject (CVI and between-subject (CVG for serum vitamins B6, B12 and folate, and erythrocyte folate were calculated. Food frequency questionnaires provided dietary data. CVI and CVG were in the range 16.1%–25.7% and 31.7%–62.2%, respectively. Oral contraceptive pill (OCP use was associated (P = 0.042 with lower serum vitamin B12 concentrations. Initial values were 172 ± 16 pmol/L and 318 ± 51 pmol/L for OCP and non-OCP users, respectively; with differences maintained at four time points over 12 weeks. BMI, age, physical activity, alcohol intake and haematological variables did not affect serum or erythrocyte vitamin concentrations. Vitamin B12 intakes were derived from traditional and unexpected sources including commercial energy drinks. Young women using OCP had significantly lower serum vitamin B12 concentrations. This should be considered in clinical decision making and requires further investigation.

Vitamin B12 deficiency might be related to sarcopenia in older adults.

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Bulut, Esra Ates; Soysal, Pinar; Aydin, Ali Ekrem; Dokuzlar, Ozge; Kocyigit, Suleyman Emre; Isik, Ahmet Turan

2017-09-01

Sarcopenia and dynapenia are related to repeated falls, mobility restriction, depression, frailty, increased mortality and morbidity. The aim of this study is to evaluate the relationship between vitamin B12 deficiency and sarcopenia in older adults. 403 patients, who attended to outpatient clinic and underwent comprehensive geriatric assessment, were included study. All cases' skeletal muscle mass (SMM), walking speed and hand grip strength were recorded by bioimpedance, 4meter walking test and hand dynamometer respectively. The diagnosis of sarcopenia was defined according to the criteria of the European Working Group on Sarcopenia in Older People. Sarcopenia was accepted low SMM with low handgrip strength or low physical performance. Dynapenia was defined as handgrip strength sarcopenia and dynapenia was 24.8% and 32.0%, respectively. In the patients with sarcopenia, mean age, osteoporosis and frailty were higher, and MMSE, and instrumental ADL scores were lower than the patients without sarcopenia (psarcopenia and dynapenia were 31.6% and 35.4%, respectively, in patients with vitamin B12 levels Sarcopenia, which results in lots of negative clinical outcomes in older adults, might be related to vitamin B12 deficiency. Therefore, these patients should be periodically examined for vitamin B12 deficiency due to the potential negative clinical outcomes such as sarcopenia in older adults. Copyright © 2017 Elsevier Inc. All rights reserved.

Deficiencies Under Plenty of Sun: Vitamin D Status among Adults in the Kingdom of Saudi Arabia, 2013.

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Tuffaha, Marwa; El Bcheraoui, Charbel; Daoud, Farah; Al Hussaini, Hessah Abdulla; Alamri, Fahad; Al Saeedi, Mohammad; Basulaiman, Mohammed; Memish, Ziad A; AlMazroa, Mohammad A; Al Rabeeah, Abdullah A; Mokdad, Ali H

2015-10-01

Vitamin D deficiency has been correlated with several diseases and injuries including diabetes, osteoporosis, fractures, and falls. In the Kingdom of Saudi Arabia (KSA), current data on vitamin D status are lacking. To inform Saudi public health authorities on the current status of blood levels vitamin D deficiency, we analyzed data from the Saudi Health Interview Survey. The Saudi Health Interview Survey (SHIS) is a cross-sectional national multistage survey of individuals aged 15 years and above on sociodemographic characteristics, tobacco consumption, diet, physical activity, health care utilization, different health-related behaviors, and self-reported chronic conditions. A total of 10,735 participants completed a health questionnaire and were invited to the local health clinics for biomedical exams. 62.65% of female Saudis and 40.6% of male Saudis aged 15 years and above are deficient in vitamin D. Out of them, less than 1% males and less than 2% females consume vitamin D supplements. Women who have never married and obese individuals are more likely to be deficient in vitamin D, compared to men who were currently married and nonobese individuals. Those consuming vitamin D supplements are less likely to be deficient in vitamin D. Our study showed a high prevalence of vitamin D deficiency among Saudi men and women, and the results call for an increased awareness to ensure adequate levels of vitamin D for better health in Saudi Arabia. Moreover, our findings are certainly relevant for other countries in the Gulf region or countries with similar cultures, clothing, and religions.

Iron, folacin, vitamin B12 and zinc status and immune response in the elderly

International Nuclear Information System (INIS)

Henry-Christian, J.R.; Johnson, A.A.; Walters, C.S.; Greene, E.J.; Lindsey, A.A.

1986-01-01

The relationships of iron, folacin, vitamin B 12 and zinc status to cell-mediated immune response were investigated among 125 healthy, elderly persons (60-87 years of age). Plasma ferritin, plasma and red cell folate, and plasma vitamin B 12 levels were assayed immuno-radiometrically. Plasma and hair zinc levels were determined by atomic absorption spectroscopy. Immune response was determined by transformation of peripheral blood lymphocytes after stimulation with phytohemagglutinin (PHA) and concanavalin A (con A), and in mixed lymphocyte reaction. Deficiencies of iron, folacin vitamin B 12 and zinc were each associated (independently) with significantly lower lymphocyte responses to PHA and con A, and mixed lymphocyte reaction (P 12 or zinc. Further, they suggest that deficiencies of these nutrients may play a role in the depression of cell-mediated immunity with age, which in turn may lead to increased susceptibility to infectious diseases and cancer in the elderly

CCR6-dependent positioning of memory B cells is essential for their ability to mount a recall response to antigen

Science.gov (United States)

Elgueta, Raul; Marks, Ellen; Nowak, Elizabeth; Menezes, Shinelle; Benson, Micah; Raman, Vanitha S.; Ortiz, Carla; O’Connell, Samuel; Hess, Henry; Lord, Graham M.; Noelle, Randolph

2014-01-01

Chemokine-dependent localization of specific B cell subsets within the immune microarchitecture is essential to insure successful cognate interactions. While cognate interactions between T cells and memory B cells (Bmem)5 are essential for the secondary humoral immune responses, the chemokine response patterns of Bmem cells are largely unknown. In contrast to naïve B cells, this study shows that antigen-specific Bmem cells have heightened expression of CCR6 and a selective chemotactic response to the CCR6 ligand, CCL20. While CCR6 appears be non-essential for the initial clonal expansion and maintenance of Bmem, CCR6 is essential for the ability of Bmem to respond to a recall response to their cognate antigen. This dependency was deemed intrinsic by studies in CCR6-deficient mice and in bone-marrow chimeric mice where CCR6 deficiency was limited to the B cell lineage. Finally, the mis-positioning of CCR6-deficient Bmem was revealed by immunohistological analysis with an altered distribution of CCR6-deficient Bmem from the marginal and perifollicular to the follicular/germinal center area. PMID:25505290

Cobalamin C deficiency in an adolescent with altered mental status and anorexia.

Science.gov (United States)

Rahmandar, Maria H; Bawcom, Amanda; Romano, Mary E; Hamid, Rizwan

2014-12-01

Although cobalamin (cbl) C deficiency is the most common inherited disorder of vitamin B12 metabolism, the late-onset form of the disease can be difficult to recognize because it has a broad phenotypic spectrum. In this report, we describe an adolescent female exposed to unknown illicit substances and sexual abuse who presented with psychosis, anorexia, seizures, and ataxia. The patient's diagnosis was delayed until a metabolic workup was initiated, revealing hyperhomocysteinemia, low normal plasma methionine, and methylmalonic aciduria. Ultimately, cblC deficiency was confirmed when molecular testing showed compound heterozygosity for mutations (c.271dupA and c.482G>A) in the MMACHC gene. This diagnosis led to appropriate treatment with hydroxocobalamin, betaine, and folate, which resulted in improvement of her clinical symptoms and laboratory values. This patient demonstrates a previously unrecognized presentation of late-onset cblC deficiency. Although neuropsychiatric symptoms are common in late-onset disease, seizures and cerebellar involvement are not. Furthermore, anorexia has not been previously described in these patients. This case emphasizes that inborn errors of metabolism should be part of the differential diagnosis for a teenager presenting with altered mental status, especially when the diagnosis is challenging or neurologic symptoms are unexplained. Correct diagnosis of this condition is important because treatment is available and can result in clinical improvement.(1.) Copyright © 2014 by the American Academy of Pediatrics.

Vitamin B12 and folate deficiency in chronic heart failure.

Science.gov (United States)

van der Wal, Haye H; Comin-Colet, Josep; Klip, Ijsbrand T; Enjuanes, Cristina; Grote Beverborg, Niels; Voors, Adriaan A; Banasiak, Waldemar; van Veldhuisen, Dirk J; Bruguera, Jordi; Ponikowski, Piotr; Jankowska, Ewa A; van der Meer, Peter

2015-02-01

To determine the prevalence, clinical correlates and the effects on outcome of vitamin B12 and folic acid levels in patients with chronic heart failure (HF). We studied an international pooled cohort comprising 610 patients with chronic HF. The main outcome measure was all-cause mortality. Mean age of the patients was 68±12 years and median serum N-terminal prohormone brain natriuretic peptide level was 1801 pg/mL (IQR 705-4335). Thirteen per cent of the patients had an LVEF >45%. Vitamin B12 deficiency (serum level <200 pg/mL), folate deficiency (serum level <4.0 ng/mL) and iron deficiency (serum ferritin level <100 µg/L, or 100-299 µg/L with a transferrin saturation <20%) were present in 5%, 4% and 58% of the patients, respectively. No significant correlation between mean corpuscular volume and vitamin B12, folic acid or ferritin levels was observed. Lower folate levels were associated with an impaired health-related quality of life (p=0.029). During a median follow-up of 2.10 years (1.31-3.60 years), 254 subjects died. In multivariable proportional hazard models, vitamin B12 and folic acid levels were not associated with prognosis. Vitamin B12 and folate deficiency are relatively rare in patients with chronic HF. Since no significant association was observed between mean corpuscular volume and neither vitamin B12 nor folic acid levels, this cellular index should be used with caution in the differential diagnosis of anaemia in patients with chronic HF. In contrast to iron deficiency, vitamin B12 and folic acid levels were not related to prognosis. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Perspectives on Peripheral Neuropathy as a Consequence of Metformin-Induced Vitamin B12 Deficiency in T2DM

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Marwan A. Ahmed

2017-01-01

Full Text Available Peripheral neuropathy (PN is a primary complication of type 2 diabetes mellitus (T2DM and a direct manifestation of vitamin B12 deficiency. Examining the effects of metformin use on PN status became imperative following clinical studies that showed the vitamin B12-lowering effect of the medication. The complexity of the topic and the inconsistency of the results warrant consideration of topic-specific perspectives for better understanding of the available evidence and more appropriate design of future studies.

Insensitivity of soybean photosynthesis to ultraviolet-B radiation under phosphorus deficiency

International Nuclear Information System (INIS)

Murali, N.S.; Teramura, A.H.

1987-01-01

Soybean [Glycinemax (L.) Merr. cv Essex] was grown in sand in a greenhouse under 2 levels of biologically effective ultraviolet‐B radiation (effective daily dose: 0 and 11.5 kJ/m UV‐BBE and 2 levels of P (6.5 and 52 μM). Plants were grown in each treatment combination up to the fifth trifoliolate stage. UV‐B radiation had no affect on plant growth and net photosynthesis at 6.5 μM P supply but decreased both these parameters when grown in the higher P concentration. Reductions in net photosynthesis were apparently due to direct effects on the photosynthetic machinery, since chlorophyll concentration and stanatal conductance were unaffected by UV‐B radiation. Both UV‐B radiation and reduced P supply increased the level of UV‐B absorbing compounds in leaf tissues and their effects were additive. The reduced sensitivity of P deficient plants to UV‐B radiation may be the result of this increase in UV absorbing compounds and possibly uv protective mechanisms associated with growth inhibition

Neonatal nucleated red blood cells in G6PD deficiency.

Science.gov (United States)

Yeruchimovich, Mark; Shapira, Boris; Mimouni, Francis B; Dollberg, Shaul

2002-05-01

The objective of this study is to study the absolute number of nucleated red blood cells (RBC) at birth, an index of active fetal erythropoiesis, in infants with G6PD deficiency and in controls. We tested the hypothesis that hematocrit and hemoglobin would be lower, and absolute nucleated RBC counts higher, in the G6PD deficient and that these changes would be more prominent in infants exposed passively to fava bean through maternal diet. Thirty-two term infants with G6PD deficiency were compared with 30 term controls. Complete blood counts with manual differential counts were obtained within 12 hours of life. Absolute nucleated RBC and corrected leukocyte counts were computed from the Coulter results and the differential count. G6PD deficient patients did not differ from controls in terms of gestational age, birth weight, or Apgar scores or in any of the hematologic parameters studied, whether or not the mother reported fava beans consumption in the days prior to delivery. Although intrauterine hemolysis is possible in G6PD deficient fetuses exposed passively to fava beans, our study supports that such events must be very rare.

Prevalence of Vitamin B12 deficiency in patients of type 2 diabetes ...

African Journals Online (AJOL)

Conclusion: Our study demonstrated significantly high prevalence of vitamin B12 deficiency in patients treated with metformin with significant effect of dose and duration of metformin use on B12 levels. Physicians must recognize this important fact and screen diabetics on metformin therapy for underlying B12 deficiency.

Untargeted Metabolomics Analysis of ABCC6-Deficient Mice Discloses an Altered Metabolic Liver Profile

DEFF Research Database (Denmark)

Rasmussen, Mie Rostved; Nielsen, Kirstine Lykke; Christensen, Mia Benedicte Lykke Roest

2016-01-01

as more features were upregulated than downregulated in ABCC6-deficient mice. However, no differences of the identified metabolites in liver could be detected in plasma, whereas urine reflected some of the changes. Of note, N-acetylated amino acids and pantothenic acid (vitamin B5), which is involved...

Cobalt deficiency effects on trace elements, hormones and enzymes involved in energy metabolism of cattle.

Science.gov (United States)

Stangl, G I; Schwarz, F J; Kirchgessner, M

1999-03-01

This study was conducted to investigate the physiological consequences of long-term moderate cobalt deficiency in beef cattle, which have not hitherto been studied in detail. Cobalt deficiency was induced in cattle by feeding two groups of animals either a basal corn silage-based diet that was moderately low in cobalt (83 micrograms Co/kg), or the same diet supplemented with cobalt to a total of 200 micrograms per kg, for 43 weeks. Cobalt deficiency was induced, as judged by inappetance, diminished growth gain and a markedly reduced vitamin B12 status in serum and liver. The long-term cobalt deprivation which was primarily a combination of reduced feed intake and a tissue vitamin B12 deficiency did not show evidence of a significant dysfunction of energy metabolism. The activities of glucose-6-phosphate dehydrogenase and cytochrome oxidase in liver remained unaffected by cobalt deficiency, nor was there a significant change in serum glucose level of cattle on the cobalt-deprived diet. However, analysis of thyroid hormone status indicated a slight reduction of type I thyroxine monodeiodinase activity in liver accompanied by a significant reduction of the triiodothyronine level in serum. The diminished liver vitamin B12 level resulted in significantly reduced folate level in this tissue, reduced concentrations of heme-depending blood parameters. Moreover cobalt deficiency or rather vitamin B12 deficiency was accompanied by a dramatic accumulation of the trace elements iron and nickel in liver. These results indicate that long-term moderate cobalt deficiency may induce a number of physiological changes in cattle, but a follow-up study, which excluded different feed levels by including a pair-fed control group, will be necessary to actually obtain the single effect of cobalt deficiency in cattle.

Prevalence of glucose-6-phosphate dehydrogenase (G6PD deficiency in neonates in Bunda Women's and Children's Hospital, Jakarta, Indonesia

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Risma Kerina Kaban

2011-02-01

Full Text Available Background Glucose-6-phosphate dehydrogenase (G6PD deficiency is the most connnon enzyme deficiency in the world. Itis a risk factor for hyperbilirubinemia in neonates, which can cause serious complications such as bilirubininduced encephalopathy or kernicterus. WHO recommends universal neonatal screening for G6PD deficiency when the frequency exceeds 35% of male newborns. Objective To assess the prevalence of G6PD deficiency among neonates in Bunda Women and C hildren Hospital (Bunda WCH, Jakarta, in order to detennine if there is a need for routine G6PD neonatal screening. Methods This is a cross-sectional and retrospective study; infants' data were obtained from medical records. From January 2009 to May 2010, all neonates in Bunda WCH were screened for G6PD deficiency on the yd day of life. Blood samples were collected using filter papers. We considered a result to be nonnal if it exceeded 3.6 U/g Hb. Results A total 1802 neonates were screened. We found 94 neonates (5.2% with G6PD deficiency. Out of 943 males, 59 (6.26% were G6PD deficient, and out of 859 females, 35 (4.07% were G6PD deficient. We observed that prevalence of G6PD deficiency according to sex distribution was significantly higher in males than females (6.26% vs. 4.07%, P=0.037. There was no significant difference in the risk for severe hyperbilirubinemia between the G6PD deficient infants and the nonnal infants (P=0.804. Conclusions The frequencies of G6PD deficiency were 6.26% of male neonates and 4.07% of female neonates. We recommend universal neonatal screening for G6PD deficiencies in Jakarta since our findings exceed the WHO recommendation for routine testing.

[Neonatal screening of hemoglobinopathies and G6PD deficiency in Catalonia (Spain). Molecular study of sickle cell disease associated with alpha thalassemia and G6PD deficiency].

Science.gov (United States)

Mañú Pereira, María Del Mar; Cabot, Anna; Martínez González, Ana; Sitjà Navarro, Eulalia; Cararach, Vicent; Sabrià, Josep; Boixaderas, Jordi; Teixidor, Roser; Bosch, Albert; López Vílchez, M Angeles; Martín Ibáñez, Itziar; Carrión, Teresa; Plaja, Pere; Sánchez, Mario; Vives Corrons, José Luis

2007-06-30

The prevalence of hemoglobinopathies and glucose-6-phosphate dehidrogenase (G6PD) deficiency in the Catalan neonatal population is increasing due to immigration. Coinheritance of more than a single RBC genetic defect is becoming more frequent and diagnostic pitfalls are also increasing. We intended to demonstrate the need to perform an early diagnosis of sickle cell disease (SCD) by means of neonatal screening, to establish the prevalence of SCD associated with alpha thalassemia and G6PD deficiency and to identify genotypes associated with sickle cell disease and G6PD deficiency. 4,020 blood samples from newborns were screened. For the screening of hemoglobinopathies the high performance liquid chromatography method was used and for G6PD deficiency the fluorescent spot test was employed. We studied the association between betaS gene and alpha thalassaemia del-3.7 Kb. SCD and G6PD deficiency genotypes were established. Prevalence of SCD in population at risk was 1/475 newborns. Prevalence of G6PD deficiency in population at risk was 1/43, and in autochthonous population was 1/527 newborns. In all the cases, sickle hemoglobin was confirmed by ARMS (amplification refractory mutation system). Association between betaS gene and alpha thalassaemia del-3.7 Kb was found in 32.2% of the samples, and an association between betaS gene and G6PD deficiency was observed in 7% of the samples. This study confirms the high prevalence of SCD and G6PD deficiency in population at risk as well as their genetic and clinical heterogeneity. The study of genotype/phenotype relationships allows a better knowledge of molecular mechanism and is useful to establish suitable criteria of diagnosis.

Anemia and Iron Deficiency in Vietnamese Children, 6 to 11 Years Old.

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Le Nguyen Bao, Khanh; Tran Thuy, Nga; Nguyen Huu, Chinh; Khouw, Ilse; Deurenberg, Paul

2016-07-01

In a population sample of 385 children, 6 to 11 years old, venous blood parameters-hemoglobin (Hb), ferritin, red blood cell count (RBC), mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), mean corpuscular hemoglobin concentration (MCHC), C-reactive protein (CRP), and α1-acid glycoprotein (AGP)-were determined to get insight into the iron status. The prevalence of anemia was 11.4%; 5.6% had iron deficiency (ID), whereas 0.4% had ID anemia. Correction for inflammation based on CRP and AGP did not markedly change the overall prevalence of ID and ID anemia. Stunted children had lower Hb and ferritin values compared with nonstunted children, and thin children had lower values compared with normal-weight or overweight and obese children. Many nonanemic children had alert values for RBC, MCV, MCH, and MCHC. It is concluded that although the prevalence of anemia is of the magnitude of a mild public health problem, the iron status of many nonanemic children is borderline, as indicated by a high number of children with low values for red blood cytology. © 2016 APJPH.

Effects of Mild and Severe Vitamin B Deficiencies on the Meiotic Maturation of Mice Oocytes

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Ai Tsuji

2017-03-01

Full Text Available We investigated the effects of vitamin B 1 deficiency on the meiosis maturation of oocytes. Female Crl:CD1 (ICR mice were fed a 20% casein diet (control group or a vitamin B 1 –free diet (test group. The vitamin B 1 concentration in ovary was approximately 30% lower in the test group than in the control group. Oocyte meiosis was not affected by vitamin B 1 deficiency when the deficiency was not accompanied by body weight loss. On the contrary, frequency of abnormal oocyte was increased by vitamin B 1 deficiency when deficiency was accompanied by body weight loss (referred to as severe vitamin B 1 deficiency; frequency of abnormal oocyte, 13.8% vs 43.7%, P  = .0071. The frequency of abnormal oocytes was decreased by refeeding of a vitamin B 1 –containing diet (13.9% vs 22.9%, P  = .503. These results suggest that severe vitamin B 1 deficiency inhibited meiotic maturation of oocytes but did not damage immature oocytes.

Vitamin B6 in plasma and cerebrospinal fluid of children.

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Monique Albersen

Full Text Available Over the past years, the essential role of vitamin B6 in brain development and functioning has been recognized and genetic metabolic disorders resulting in functional vitamin B6 deficiency have been identified. However, data on B6 vitamers in children are scarce.B6 vitamer concentrations in simultaneously sampled plasma and cerebrospinal fluid (CSF of 70 children with intellectual disability were determined by ultra performance liquid chromatography-tandem mass spectrometry. For ethical reasons, CSF samples could not be obtained from healthy children. The influence of sex, age, epilepsy and treatment with anti-epileptic drugs, were investigated.The B6 vitamer composition of plasma (pyridoxal phosphate (PLP > pyridoxic acid > pyridoxal (PL differed from that of CSF (PL > PLP > pyridoxic acid > pyridoxamine. Strong correlations were found for B6 vitamers in and between plasma and CSF. Treatment with anti-epileptic drugs resulted in decreased concentrations of PL and PLP in CSF.We provide concentrations of all B6 vitamers in plasma and CSF of children with intellectual disability (±epilepsy, which can be used in the investigation of known and novel disorders associated with vitamin B6 metabolism as well as in monitoring of the biochemical effects of treatment with vitamin B6.

Evaluation of vitamin B 12 deficiency in various clinical condition

International Nuclear Information System (INIS)

Baig, J.A.; Alam, J.M.; Kazmi, T.; Waseem, S.; Hussain, A.; Arif, S.; Shaheen, R.; Sultana, I.

2010-01-01

Low levels of vitamin B 12 have been associated with several clinical conditions. However no single symptom or group of symptoms can be made responsible. Reported causes of deficiency among older population are hematologic or neurological, followed by gastrointestinal and possibly vascular symptoms. The present prospective observational study was, hence, initiated to evaluate the underlying clinical condition or symptoms associated with vitamin B12 deficiency. The study was prospective observational and carried out on 121 patients (males, n=63 and females, n=58) for the period from January 1, 2004 to January 24, 2007. Age ranges were between 16 - 70 years, and categorized as > 60 yrs and < 60 years. All blood parameters were analyzed by standardized methods on automated analyzers. The deficiency was found to be more prevalent in males and increased from 52.06% to 58.10% in individuals with vitamin B12 <150 pg/ml. Mal nourishment was noted among the most subjects and weakness and anemia were frequent clinical findings (35.55%, n=43, 14%, n=51). Other clinical conditions were neuropsychiatric. Whereas less frequent findings were paraesthesia and gastrointestinal symptoms. Hypertension was more prevalent in vitamin B12 deficient individuals followed by diabetes, dementia, stroke, ischemic heart disease and Parkinson's disease. (author)

Anemia and Micronutrient Status of Women of Childbearing Age and Children 6–59 Months in the Democratic Republic of the Congo

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Sarah Harvey-Leeson

2016-02-01

Full Text Available Little is known about the micronutrient status of women and children in the Democratic Republic of the Congo, which is critical for the design of effective nutrition interventions. We recruited 744 mother-child pairs from South Kivu (SK and Kongo Central (KC. We determined hemoglobin (Hb, serum zinc, vitamin B12, folate, ferritin, soluble transferrin receptor (sTfR, retinol binding protein (RBP, C-reactive protein, and α-1 acid glycoprotein concentrations. Anemia prevalence was determined using Hb adjusted for altitude alone and Hb adjusted for both altitude and ethnicity. Anemia prevalence was lower after Hb adjustment for altitude and ethnicity, compared to only altitude, among women (6% vs. 17% in SK; 10% vs. 32% in KC, children 6–23 months (26% vs. 59% in SK; 25% vs. 42% in KC, and children 24–59 months (14% vs. 35% in SK; 23% vs. 44% in KC, respectively. Iron deficiency was seemingly higher with sTfR as compared to inflammation-adjusted ferritin among women (18% vs. 4% in SK; 21% vs. 5% in KC, children 6–23 months (51% vs. 14% in SK; 74% vs. 10% in KC, and children 24–59 months (23% vs. 4% in SK; 58% vs. 1% in KC. Regardless of indicator, iron deficiency anemia (IDA never exceeded 3% in women. In children, IDA reached almost 20% when sTfR was used but was only 10% with ferritin. Folate, B12, and vitamin A (RBP deficiencies were all very low (<5%; RBP was 10% in children. The prevalence of anemia was unexpectedly low. Inflammation-adjusted zinc deficiency was high among women (52% in SK; 58% in KC, children 6–23 months (23% in SK; 20% in KC, and children 24–59 months (25% in SK; 27% in KC. The rate of biochemical zinc deficiency among Congolese women and children requires attention.

[Biological markers for the status of vitamins B12 and D: the importance of some analytical aspects in relation to clinical interpretation of results].

Science.gov (United States)

Boulat, O; Rey, F; Mooser, V

2012-10-31

Biological markers for the status of vitamins B12 and D: the importance of some analytical aspects in relation to clinical interpretation of results When vitamin B12 deficiency is expressed clinically, the diagnostic performance of total cobalamin is identical to that of holotranscobalamin II. In subclinical B12 deficiency, the two aforementioned markers perform less well. Additional analysis of a second, functional marker (methylmalonate or homocysteine) is recommended. Different analytical approaches for 25-hydroxyvitamin D quantification, the marker of vitamin D deficiency, are not yet standardized. Measurement biases of up to +/- 20% compared with the original method used to establish threshold values are still observed.

The phenomenon of micronutrient deficiency among children in China: a systematic review of the literature.

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Wong, Angel Y S; Chan, Esther W; Chui, Celine S L; Sutcliffe, Alastair G; Wong, Ian C K

2014-11-01

The present study aimed to review the literature on micronutrient deficiency and other factors influencing a deficiency status among children living in China. A systematic review was performed to analyse the literature. Studies were identified through a search of PubMed and secondary references. Children living in China aged less than 18 years. Sixty-one articles were included. The prevalence of vitamin A deficiency decreased to approximately 10 % in 1995-2009. It increased with age but no significant difference was found between genders. The prevalence of thiamin and vitamin B12 deficiency was 10·5 % in Yunnan and 4·5 % in Chongqing provinces, respectively. Higher vitamin D deficiency rates were seen in spring and winter. The incidence of bleeding due to vitamin K deficiency was 3·3 % in 1998-2001 and more prevalent in rural areas. Both iodine deficiency and excess iodine intake were observed. Goitre rates were reported in Tibet, Jiangxi, Gansu and Hong Kong (3·5-46 %). Anaemia rates ranged from 20 % to 40 % in 2007-2011. High Se deficiency rates were found in Tibet, Shaanxi and Jiangsu. High Zn deficiency rates were also found (50-70 %) in 1995-2006. Few studies reported Ca deficiency rates (19·6-34·3 %). The degrees of deficiency for vitamin A, vitamin B12, Fe and Zn were more substantial in rural areas compared with urban areas. The prevalence of micronutrient deficiency rates varied. Socio-economic status, environmental factors and the Chinese diet may influence micronutrient deficiency. Public health policies should consider implementing programmes of supplementation, food fortification and nutrition education to address these deficiencies among Chinese children.

Preconception serum 1,1,1-trichloro-2,2,bis(p-chlorophenyl)ethane and B-vitamin status: independent and joint effects on women's reproductive outcomes.

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Ouyang, Fengxiu; Longnecker, Matthew P; Venners, Scott A; Johnson, Sara; Korrick, Susan; Zhang, Jun; Xu, Xiping; Christian, Parul; Wang, Mei-Cheng; Wang, Xiaobin

2014-12-01

Although preconception 1,1,1-trichloro-2,2,bis(p-chlorophenyl)ethane (DDT) exposure and B-vitamin deficiencies have each been shown to negatively affect human reproductive outcomes, little is known about their joint effect. We sought to examine whether B-vitamin sufficiency protects against adverse effects of DDT on clinical pregnancy (CP) and subclinical early pregnancy loss (EPL). We measured preconception concentrations of plasma B vitamins (vitamin B-6, vitamin B-12, and folate) and serum total DDT [sum of p,p' and o,p' isomers of DDT and 1,1-dichloro-2,2-bis(p-chlorophenyl)ethylene] in 291 nulligravid women from Anhui, China, who were studied in 1996-1998. The women were followed prospectively from the time they stopped contraception until CP (gestational age ≥42 d) or 12 mo (whichever occurred first). EPL was identified by using daily urinary human chorionic gonadotropin. The women were categorized according to B-vitamin status (deficiency compared with sufficiency) and DDT concentration (high compared with low). Of 291 study women, a total of 385 conceptions (31% of which ended in EPL) and 265 CPs occurred. Compared with women with adequate B-vitamins and low DDT, incidence rates of CP were reduced in women with B-vitamin deficiency and a high DDT concentration (P vitamin B-12, DDT was not associated with the incidence of CP; in contrast, in women with vitamin B-12 deficiency, high DDT was associated with a lower incidence of CP (HR: 0.44; 95% CI: 0.23, 0.84); and the test for interaction was significant (P vitamin B-12 and folate sufficiency may help protect against adverse reproductive effects of DDT exposure. Additional studies are needed to confirm our findings. © 2014 American Society for Nutrition.

Vitamin D deficiency, oxidative stress and antioxidant status: only weak association seen in the absence of advanced age, obesity or pre-existing disease.

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Wang, Erica W; Siu, Parco M; Pang, Marco Y; Woo, Jean; Collins, Andrew R; Benzie, Iris F F

2017-07-01

Vitamin D deficiency (plasma 25-hydroxycholecalciferol (25(OH)D)70 % of participants were vitamin D deficient. No significant correlations and no biomarker differences across 25(OH)D quartiles or groups were seen except for total antioxidant status. A weak direct association (r 0·252, Pstress biomarkers in the absence of advanced age, obesity and disease, though some evidence of depleted antioxidant status in those with vitamin D deficiency was seen. Poor antioxidant status may pre-date increased oxidative stress. Study of effects of correction of deficiency on antioxidant status and oxidative stress in vitamin D-deficient but otherwise healthy subjects is needed.

Vitamin B12 Deficiency in Type 2 Diabetes Mellitus

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Carlos Tavares Bello

2017-10-01

Conclusion: Further studies are needed to identify the risk factors for the B12 deficit. The recognition of these variables will contribute to optimize the screening and prevention of the B12 deficiency in type 2 diabetes mellitus.

O6-Methylguanine DNA Methyltransferase Status Does Not Predict Response or Resistance to Alkylating Agents in Well-Differentiated Pancreatic Neuroendocrine Tumors.

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Raj, Nitya; Klimstra, David S; Horvat, Natally; Zhang, Liying; Chou, Joanne F; Capanu, Marinela; Basturk, Olca; Do, Richard Kinh Gian; Allen, Peter J; Reidy-Lagunes, Diane

2017-07-01

Alkylating agents have activity in well-differentiated pancreatic neuroendocrine tumors (WD panNETs). In glioblastoma multiforme, decreased activity of O-methylguanine DNA methyltransferase (MGMT) predicts response; in panNETs, MGMT relevance is unknown. We identified patients with WD panNETs treated with alkylating agents, determined best overall response by Response Evaluation Criteria In Solid Tumors (RECIST) 1.1, and performed MGMT activity testing. Fifty-six patients were identified; 26 (46%) of the 56 patients experienced partial response, 24 (43%) of 56 experienced stable disease, and 6 (11%) of 56 experienced progression of disease. O-methylguanine DNA methyltransferase status was available for 36 tumors. For tumors with partial response, 10 (67%) of 15 were MGMT deficient, and 5 (33%) of 15 were MGMT intact. For tumors with stable disease, 7 (47%) of 15 were MGMT deficient, and 8 (53%) of 15 were MGMT intact. For tumors with progression of disease, 3 (50%) of 6 were MGMT deficient, and 3 (50%) of 6 were MGMT intact. We observed response and resistance to alkylating agents in MGMT-deficient and MGMT-intact tumors. O-methylguanine DNA methyltransferase status should not guide alkylating agent therapy in WD panNETs.

[Vitamin D status in 6- to 10-year-old children: a French multicenter study in 326 children].

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Mallet, E; Gaudelus, J; Reinert, P; Stagnara, J; Bénichou, J; Basuyau, J-P; Maurin, M; Cordero, J; Roden, A; Uhlrich, J

2014-10-01

To assess the vitamin D status of children aged 6-10years in the French general population for whom no guidelines have yet been defined due to insufficient data. The study was conducted during two winters with very different sunshine levels: 5 March to 17 April 2012 and 8 January to 16 April 2013 in 20 then 22 centers. Three hundred children (60 children for each year of age) attending an ambulatory care unit or outpatient department for a reason unrelated to vitamin D status were included at the end of winter in 20 hospital centers (ten centers in the northern half of France above latitude 46-47°N/Lille: 50°N and ten centers in the southern half of France below latitude 46-47°N/Marseille: 43°N). Centralized 25 hydroxyvitamin D (25(OH)D), alkaline phosphatase (ALP), and parathormone (PTH) assays were performed on leftover blood samples. The currently accepted normal range for 25(OH)D was used to define the following categories: ≤25nmol/L: severe vitamin D deficiency, 25nmol/Lvitamin D deficiency≤50nmol/L, 50nmol/Lvitamin D status≤100nmol/L, >100nmol/L: high vitamin D status. A standardized questionnaire was used to collect the child's characteristics, use of a vitamin D supplement, and milk and dairy product intake. The cumulative number of hours of sunshine over the 90days prior to inclusion in each center was obtained from the Météo-France weather bureau. 25(OH)D assays were performed in 326 children; more than 95% of children received milk and dairy products and 38% had received a vitamin D supplement since starting the school year: 3.1% of children in the overall population presented severe vitamin D deficiency, 34.4% presented vitamin D deficiency, 53.1% had a sufficient vitamin D status, and 9.5% had a 25(OH)D concentration >100nmol/L with no impact on serum calcium and urinary calcium. Children living in the north of France generally had lower 25(OH)D levels than children living in the south of France. In the non-supplemented population (n=188

Is zinc deficiency a risk factor for atherosclerosis?

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Beattie, John H; Kwun, In-Sook

2004-02-01

The development of atherosclerosis is influenced by genetic, lifestyle and nutritional risk factors. Zn and metallothionein deficiency can enhance oxidative-stress-related signalling processes in endothelial cells, and since changes in available plasma Zn may affect the Zn status of the endothelium, Zn deficiency could be a risk factor for IHD. Although the association of Zn with many proteins is essential for their function, three key signalling processes are highlighted as being principal targets for the effect of Zn deficiency: the activation of NF-kappaB, the activation of caspase enzymes and the signalling of NO. The need to develop a reliable indicator of Zn status is critical to any epidemiological approach for studying the relationship between Zn status and disease incidence. Studies using appropriate animal models and investigating how the plasma Zn pool influences endothelial intracellular labile Zn would be helpful in appreciating the importance of Zn deficiency in atherogenesis.

Vitamin B12 Deficiency Presenting as Pancytopenia in Pregnancy: A Case Report

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Idris N

2012-12-01

Full Text Available Vitamin B12 deficiency is a well-known cause of megaloblastic anaemia and pancytopenia. However, the incidence in pregnancy is rarely reported. We present a case of a 32-year old multigravid woman who was diagnosed with megaloblastic anaemia since 22 weeks gestation and progressed to develop severe pancytopenia at 30 weeks gestation. she was also diagnosed with vitamin B12 deficiency related to dietary and sociocultural habits. Folate and iron levels were normal throughout pregnancy. treatment with parenteral cyano-cobalamin resulted in sustained improvement of haematological parameters. the pregnancy was carried to term and the baby was born weighing 2,050gm but otherwise well at birth and had normal developmental milestones thereafter. this case illustrates the clinical presentation of maternal vitamin B12 deficiency and demonstrates the importance of detecting and treating maternal vitamin B12 deficiency during pregnancy in at-risk patients. Failure to diagnose and institute treatment carries significant risks to both mother and child. oral vitamin B12 supplementation should be considered for patients who are strict vegetarians or consume very little animal products.

The impact of vegan diet on B-12 status in healthy omnivores: five-year prospective study.

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Mądry, Edyta; Lisowska, Aleksandra; Grebowiec, Philip; Walkowiak, Jarosław

2012-04-02

There are no long-term prospective studies assessing the impact of the vegan diet on vitamin B-12 (B-12) status. Many vegans take B-12 supplements irregularly or refuse to adopt them at all, considering them to be "unnatural" products. The use of B-12 fortified food may be an alternative. Therefore, we aimed to estimate the long-term effect of a vegan diet on serum B-12 concentrations in healthy omnivore adults, comparing the influence of natural products consumption and B-12 fortified food. A five year prospective study was carried out comprising 20 omnivore healthy adult subjects, who moved to strict vegan diet for 5 years. Ten volunteers followed vegan diet based entirely on natural products, while the remaining ten subjects consumed food fortified in B-12. In all subjects serum vitamin B-12 concentration was determined before and 6, 12, 24 and 60 months after the implementation of the diet. A significant decrease (p vegan diet. However, observed changes were in fact limited to the subgroup consuming exclusively natural products (p vegan diet is associated with the risk of vitamin B-12 deficiency. B-12 fortified products might constitute a valuable alternative in vegans refusing to take vitamin supplements.

Prevalence of glucose-6-phosphate dehydrogenase deficiency in ...

African Journals Online (AJOL)

Background: Glucose-6-phosphate dehydrogenase (G6PD) is a house keeping enzyme which catalyzes the first step in the hexose monophosphate pathway of glucose metabolism. G6PD deficiency is the commonest hemolytic X-linked genetic disease, which affects approximately 400 million people worldwide.

Association of Vitamin B12 Deficiency and Use of Reverse Osmosis Processed Water for Drinking: A Cross-Sectional Study from Western India.

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Gupta, Ekant Surendra; Sheth, Sanket Pranjivan; Ganjiwale, Jaishree Deepak

2016-05-01

Prevalence of Vitamin B12 deficiency has increased in community in recent time. Possibility is raised for new and yet unidentified factors being associated with this increased prevalence. One of these factors frequently questioned is use of Reverse Osmosis (RO) processed water for drinking. We aimed to study association of use of RO processed water for drinking with Vitamin B12 deficiency. This cross-sectional study was done at tertiary care centre of Western India. Total 250 participants were recruited after excluding those participants with known factors responsible for Vitamin B12 deficiency. Information about gender, type of diet, milk intake and duration, dairy product intake, use of RO water and Vitamin B12 level was collected. Total 70 (28%) participants out of 250 were having Vitamin B12 deficiency. Forty (50.6%) of 79 participants using RO water were Vitamin B12 deficient against 30 (17.5%) of 171 using other sources. Logistic regression analysis showed independent association between use of RO water and Vitamin B12 deficiency. Although association of male gender, milk quantity of less than 100 ml per day and duration of RO water intake with occurrence of Vitamin B12 deficiency was found statistically significant in univariate analysis, logistic regression analysis did not show significant association. Use of RO processed drinking water was associated with Vitamin B12 deficiency. This being cross- sectional study, further longitudinal studies with large sample size and taking confounding factors into consideration, are required to establish this association.

Increased periodontal bone loss in temporarily B lymphocyte-deficient rats

DEFF Research Database (Denmark)

Klausen, B; Hougen, H P; Fiehn, N E

1989-01-01

In order to study the role of T lymphocytes and B lymphocytes in the development of marginal periodontitis, experiments were performed on specific-pathogen-free (SPF) rats with various immunologic profiles. The study comprised nude (congenitally T lymphocyte-deficient), thymus-grafted nude (T-lym......-lymphocyte deficiency did not interfere with the development of periodontal disease in this model, whereas a temporary and moderate reduction in B-lymphocyte numbers seemed to predispose for aggravation of periodontal bone loss.......In order to study the role of T lymphocytes and B lymphocytes in the development of marginal periodontitis, experiments were performed on specific-pathogen-free (SPF) rats with various immunologic profiles. The study comprised nude (congenitally T lymphocyte-deficient), thymus-grafted nude (T...... had significantly less periodontal bone support than controls. Anti-mu treated inoculated rats had significantly less periodontal bone support than nude and normal rats, whereas no difference was found between normal, nude, and thymus-grafted rats. It is concluded that permanent T...

Nutritional Status Prior to Laparoscopic Sleeve Gastrectomy Surgery.

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Sherf Dagan, Shiri; Zelber-Sagi, Shira; Webb, Muriel; Keidar, Andrei; Raziel, Asnat; Sakran, Nasser; Goitein, David; Shibolet, Oren

2016-09-01

Two main causes for nutrient deficiencies following bariatric surgery (BS) are pre-operative deficiencies and favoring foods with high-energy density and poor micronutrient content. The aims of this study were to evaluate nutritional status and gender differences and the prevalence of nutritional deficiencies among candidates for laparoscopic sleeve gastrectomy (LSG) surgery. A cross-sectional analysis of pre-surgery data collected as part of a randomized clinical trial on 100 morbidly obese patients with non-alcoholic fatty liver disease (NAFLD) admitted to LSG surgery at Assuta Medical Center between February 2014 and January 2015. Anthropometrics, food intake, and fasting blood tests were evaluated during the baseline visit. One-hundred patients completed the pre-operative measurements (60 % female) with a mean age of 41.9 ± 9.8 years and a mean BMI of 42.3 ± 4.7 kg/m(2). Pre-operatively, deficiencies for iron, ferritin, folic acid, vitamin B1, vitamin B12, vitamin D, and hemoglobin were 6, 1, 1, 6, 0, 22, and 6 %, respectively. Pre-surgery, mean energy, protein, fat, and carbohydrate intake were 2710.7 ± 1275.7 kcal/day, 114.2 ± 48.5, 110.6 ± 54.5, and 321.6 ± 176.1 gr/day, respectively. The intakes for iron, calcium, folic acid, vitamin B12, and vitamin B1 were below the Dietary Reference Intake (DRI) recommendations for 46, 48, 58, 14, and 34 % of the study population, respectively. We found a low prevalence of nutritional deficiencies pre-operatively except for vitamin D. Most micronutrient intake did not reach the DRI recommendations, despite high-caloric and macronutrient intake indicating a poor dietary quality.

[Glucose-6-phosphate dehydrogenase deficiency in children: a case report].

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Verdugo L, Patricia; Calvanese T, Marlene; Rodríguez V, Diego; Cárcamo C, Cassandra

2014-02-01

Glucose-6-phosphate dehydrogenase deficiency (G6PD deficiency) is the most common red blood cell (RBC) enzyme disorder. The decrease as well as the absence of the enzyme increase RBC vulnerability to oxidative stress caused by exposure to certain medications or intake of fava beans. Among the most common clinical manifestations of this condition, acute hemolysis, chronic hemolysis, neonatal hyperbilirubinemia, and an asymptomatic form are observed. To analyze the case of a child who presented hemolytic crisis due to favism. A 2 year and 7 month old boy with a history of hyperbilirubinemia during the newborn period with no apparent cause, no family history of hemolytic anemia or parental consanguinity. He presented a prolonged neonatal jaundice and severe anemia requiring RBC transfusion. An intake of fava beans 48 h prior to onset of symptoms was reported. G6PD qualitative determination was compatible with this enzyme deficiency. G6PD deficiency can be highly variable in its clinical presentation, so it is necessary to keep it in mind during the diagnosis of hemolytic anemia at any age.

Prevalence of glucose-6-phosphate dehydrogenase deficiency in ...

African Journals Online (AJOL)

Pradeep Kumar

2016-02-06

Feb 6, 2016 ... Hemolytic anemia; ... G6PD deficiency is the commonest hemolytic X-linked genetic disease, which affects .... tain drugs or infection, can elicit acute hemolysis. ..... down syndrome risk: a meta-analysis from 34 studies.

Erythrocyte vitamin B, and B6 dependent enzymes in adult and newborn Thoroughbred horses

Directory of Open Access Journals (Sweden)

Maria de Fátima Cepa Matos

1996-09-01

Full Text Available Com o propósito de determinar o estado nutricional de cavalos Puro-Sangue Inglês (PSI em relação à riboflavina (vitamina B2 e à piridoxina (vitamina B6, 10 animais adultos e 30 recém-nascidos foram investigados. Foi observado um bom estado nutricional quanto à riboflavina, notando-se moderada deficiência de piridoxina nos animais adultos, mas não nos recém-nascidos. Estes fatos sugerem que os animais adultos devam receber suplementação com piridoxina.

Glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinaemia: Hacettepe experıence.

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Celik, H Tolga; Günbey, Ceren; Unal, Sule; Gümrük, Fatma; Yurdakök, Murat

2013-05-01

The aim of this study was to investigate the prevalence of glucose-6-phospate dehydrogenase (G6PD) deficiency in newborn infants with neonatal hyperbilirubinaemia and to compare the clinical features of G6PD-deficient and G6PD-normal newborn infants. A total of 4906 term and preterm neonates with indirect hyperbilirubinaemia were retrospectively evaluated according to demographic, neonatal features, bilirubin levels, erythrocyte G6PD levels, other risk factors and treatments. Among 4906 newborn infants with indirect hyperbilirubinaemia, 55 (1.12%) neonates were G6PD-deficient. In our study, no statistically significant difference was detected between G6PD-deficient and G6PD-normal infants in relation to the time of onset of jaundice, bilirubin levels and duration of phototherapy. However, the incidence of exchange transfusion in G6PD-deficient infants was 16.4% while it was only 3.3% in G6PD normal infants (P G6PD must be ordered to all newborns who are receiving phototherapy and especially to those who are coming from the high incident geographical regions and less responsive to phototherapy. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

Micronutrient status and intake in omnivores, vegetarians and vegans in Switzerland.

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Schüpbach, R; Wegmüller, R; Berguerand, C; Bui, M; Herter-Aeberli, I

2017-02-01

Vegetarian and vegan diets have gained popularity in Switzerland. The nutritional status of individuals who have adopted such diets, however, has not been investigated. The aim of this study was to assess the intake and status of selected vitamins and minerals among vegetarian and vegan adults living in Switzerland. Healthy adults [omnivores (OVs), n OV  = 100; vegetarians (VGs), n VG  = 53; vegans (VNs), n VN  = 53] aged 18-50 years were recruited, and their weight and height were measured. Plasma concentrations of the vitamins A, C, E, B1, B2, B6, B12, folic acid, pantothenic acid, niacin, biotin and β-carotene and of the minerals Fe, Mg and Zn and urinary iodine concentration were determined. Dietary intake was assessed using a three-day weighed food record, and questionnaires were issued in order to assess the physical activity and lifestyle of the subjects. Omnivores had the lowest intake of Mg, vitamin C, vitamin E, niacin and folic acid. Vegans reported low intakes of Ca and a marginal consumption of the vitamins D and B12. The highest prevalence for vitamin and mineral deficiencies in each group was as follows: in the omnivorous group, for folic acid (58 %); in the vegetarian group, for vitamin B6 and niacin (58 and 34 %, respectively); and in the vegan group, for Zn (47 %). Despite negligible dietary vitamin B12 intake in the vegan group, deficiency of this particular vitamin was low in all groups thanks to widespread use of supplements. Prevalence of Fe deficiency was comparable across all diet groups. Despite substantial differences in intake and deficiency between groups, our results indicate that by consuming a well-balanced diet including supplements or fortified products, all three types of diet can potentially fulfill requirements for vitamin and mineral consumption.

Impaired IL-13-mediated functions of macrophages in STAT6-deficient mice.

Science.gov (United States)

Takeda, K; Kamanaka, M; Tanaka, T; Kishimoto, T; Akira, S

1996-10-15

IL-13 shares many biologic responses with IL-4. In contrast to well-characterized IL-4 signaling pathways, which utilize STAT6 and 4PS/IRS2, IL-13 signaling pathways are poorly understood. Recent studies performed with STAT6-deficient mice have demonstrated that STAT6 plays an essential role in IL-4 signaling. In this study, the functions of peritoneal macrophages of STAT6-deficient mice in response to IL-13 were analyzed. In STAT6-deficient mice, neither morphologic changes nor augmentation of MHC class II expression in response to IL-13 was observed. In addition, IL-13 did not decrease the nitric oxide production by activated macrophages. Taken together, these results suggest that the macrophage functions in response to IL-13 were impaired in STAT6-deficient mice, indicating that IL-13 and IL-4 share the signaling pathway via STAT6.

Screening of Glucose-6-Phosphate Dehydrogenase Deficiency in Cord Blood

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Can Acipayam

2014-02-01

Aim: Glucose-6-phosphate dehydrogenase deficiency is an important factor in etiology of pathologic neonatal jaundice. The aim of this study was to indicate the significance of screening glucose-6-phosphate dehydrogenase deficiency in the cord blood of neonates and the frequency of this deficiency in the etiology of neonatal hyperbilirubinemia. Material and Method: The study was performed consecutive 1015 neonates were included. Five hundred fifty six (54.8% of them were male and 459 (45.2% were female. The following parameters were recorded: Gender, birth weight, birth height, head circumference and gestational age. The glucose-6-phosphate dehydrogenase level of neonates were measured with quantitative method in cord blood. Also, hemoglobine, hematocrite, red blood cell count and blood group were measured. The following parameters were recorded in cases with jaundice: exchange transfusion, phototherapy, physiologic and pathologic jaundice, peak bilirubin day, maximum bilirubin level, total bilirubin level at the first day of jaundice, beginning time of jaundice. Results: Enzyme deficiency was detected in 133 (13.1% of neonates and 76 (57% of them were male, 57 (43% were female. Significant difference was detected in low glucose-6-phosphate dehydrogenase enzyme level with jaundice group for total bilirubin level at the first day of jaundice, maximum total bilirubin level and pathologic jaundice (p<0.05. Discussion: The ratio of glucose-6-phosphate dehydrogenase deficiency was found in Edirne in this study and this ratio was higher than other studies conducted in our country. For this reason, glucose-6-phosphate dehydrogenase enzyme level in cord blood of neonates should be measured routinely and high risk neonates should be followed up for hyperbilirubinemia and parents should be informed in our region.

Vitamin B-12 in breast milk and diet, and riboflavin in breastmilk, are very low in Kenyan lactating women, although vitamin B-6 is sufficient.

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Background: Breastmilk B-vitamin concentrations can fluctuate with maternal intake. Low maternal intake of B-vitamins may result in low B-vitamin breastmilk concentrations and consequently B-vitamin deficiency in their infants because infants 0–6 months are recommended to be exclusively breastfed. T...

Association between vitamin deficiency and metabolic disorders related to obesity.

Science.gov (United States)

Thomas-Valdés, Samanta; Tostes, Maria das Graças V; Anunciação, Pamella C; da Silva, Bárbara P; Sant'Ana, Helena M Pinheiro

2017-10-13

Inappropriate food behavior contributes to obesity and leads to vitamin deficiency. This review discusses the nutritional status of water- and fat-soluble vitamins in obese subjects. We verified that most vitamins are deficient in obese individuals, especially the fat-soluble vitamins, folic acid, vitamin B 12 and vitamin C. However, some vitamins have been less evaluated in cases of obesity. The adipose tissue is considered a metabolic and endocrine organ, which in excess leads to changes in body homeostasis, as well as vitamin deficiency which can aggravate the pathological state. Therefore, the evaluation of vitamin status is of fundamental importance in obese individuals.

Cobalt-vitamin B12 deficiency and the activity of methylmalonyl CoA mutase and methionine synthase in cattle.

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Kennedy, D G; Young, P B; Kennedy, S; Scott, J M; Molloy, A M; Weir, D G; Price, J

1995-01-01

Cobalt deficiency was induced in cattle by feeding two groups of animals either a basal diet that was very low in Co (12.9-17.6 micrograms Co per kg), or the same diet supplemented with cobalt, for a total of 64 weeks. Vitamin B12 deficiency was induced, as judged by hepatic concentrations of vitamin B12 and plasma concentrations of MMA. However, the activity of holo-methylmalonyl CoA mutase was significantly reduced only in brain. This was reflected in very minor alterations in the tissue concentrations of branched chain- and odd numbered-fatty acids. The activity of holo-methionine synthase was significantly reduced in liver and brain, but there were no consequent alterations in the concentrations of phosphatidyl choline and phosphatidyl ethanolamine. This study confirms that cattle are less susceptible to the effects of cobalt deficiency than sheep, and concludes that prolonged cobalt deficiency had little significant effect on tissue metabolism.

Analysis of B chromosome nondisjunction induced by the r-X1 deficiency in maize.

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Tseng, Shih-Hsuan; Peng, Shu-Fen; Cheng, Ya-Ming

2017-11-20

The maize B chromosome typically undergoes nondisjunction during the second microspore division. For normal A chromosomes, the r-X1 deficiency in maize can induce nondisjunction during the second megaspore and first microspore divisions. However, it is not known whether the r-X1 deficiency also induces nondisjunction of the maize B chromosome during these cell divisions. To answer this question, chromosome numbers were determined in the progeny of r-X1/R-r female parents carrying two B chromosomes. Some of the r-X1-lacking progeny (21.2%) contained zero or two B chromosomes. However, a much higher percentage of the r-X1-containing progeny (43.4%) exhibited zero or two B chromosomes, but none displayed more than two B chromosomes. Thus, the results indicated that the r-X1 deficiency could also induce nondisjunction of the B chromosome during the second megaspore division; moreover, the B chromosome in itself could undergo nondisjunction during the same division. In addition, pollen grains from plants with two B chromosomes lacking or exhibiting the r-X1 deficiency were compared via pollen fluorescence in situ hybridization (FISH) using a B chromosome-specific probe. The results revealed that the r-X1 deficiency could induce the occurrence of B chromosome nondisjunction during the first microspore division and that the B chromosome in itself could undergo nondisjunction during the same division at a lower frequency. Our data shed more light on the behavior of the maize B chromosome during cell division.

IL-6, TNF-α, IL-10, and nutritional status in pediatric patients with biliary atresia.

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Wilasco, Maria Ines de Albuquerque; Uribe-Cruz, Carolina; Santetti, Daniele; Fries, Gabriel Rodrigo; Dornelles, Cristina Toscani Leal; Silveira, Themis Reverbel da

The objective of the present study is to evaluate whether IL-6, TNF-α, IL-10 are associated with nutritional status in patients with cirrhosis secondary to biliary atresia and compare to healthy controls. The parameters used for nutritional assessment were the standard deviation scores of height-for-age and of triceps skinfold thickness-for-age. The severity of cirrhosis was evaluated using the Child-Pugh score and PELD/MELD. Serum cytokines were measured using Cytometric Bead Array flow cytometry. IL-6, TNF-α, and IL-10 were significantly higher in the cirrhosis group when compared with the control group (2.4 vs. 0.24 (patresia, IL-6 could be used as a possible supporting biomarker of deficient nutritional status and elevated IL-10 levels could be used as a possible early-stage supporting biomarker of deteriorating nutritional status. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

B-vitamin interventions for women and children in low-income populations.

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Swaminathan, Sumathi; Thomas, Tinku; Kurpad, Anura V

2015-05-01

This review examines the effect of B vitamins on women and child health from recent evidence available. Findings were related to functional outcomes. In terms of foetal growth, although supplementation with B12 increased B12 status of nonpregnant and pregnant women and infants, maternal plasma homocysteine, which is related to multiple deficiencies of vitamin B12, B6, riboflavin or folate, has been shown to be associated with lower birth size rather than solely plasma B12. However, an experimental study with thiamine supplementation showed improvement in status in thiamine-deficient mothers and breast milk concentration, but not in infant status. Given the multiple aetiology of anaemia, the use of multiple micronutrient fortification has expectedly shown a reduction in anaemia prevalence in women. Furthermore, these micronutrients can interact with each other: high maternal folate intakes coupled with low B12 intakes were associated with a higher risk of delivering a small-for-gestational age infant. A high maternal plasma folate was also associated with insulin resistance in children aged 9.5 and 13.5 years. Interventions with B vitamins were found to be efficacious in improving the status in women and children. In multiple micronutrient supplementation programmes, the optimum composition of the supplement needs to be determined. The deleterious effect of high folate intakes with low B12 intakes needs to be explored further.

Vitamin B12 deficiency evaluation and treatment in severe dry eye disease with neuropathic ocular pain.

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Ozen, Serkan; Ozer, Murat Atabey; Akdemir, Mehmet Orçun

2017-06-01

This study aims to understand the effect of vitamin B12 deficiency on neuropathic ocular pain (NOP) and symptoms in patients with dry eye disease (DED). Patients with severe DED (without receiving topical artificial tears treatment) and ocular pain were enrolled (n = 90). Patients with severe DED and vitamin B12 deficiency (group 1, n = 45) received parenteral vitamin B12 supplement + topical treatment (artificial tears treatment + cyclosporine), and patients with severe DED and normal serum vitamin B12 level (group 2, n = 45) received only topical treatment (artificial tears treatment + cyclosporine). Patients were evaluated by the ocular surface disease index (OSDI) questionnaire, 3rd question (have you experienced painful or sore eyes during last week?) score of OSDI as a pain determiner and pain frequency measure), tear break up time (TBUT), and Schirmer's type 1 test. We compared the groups' OSDI, TBUT, and Schirmer's test recordings at the first visit and after 12 weeks retrospectively. The OSDI score, 3rd OSDI question score, TBUT, and Schirmer's test results improved after 12 weeks (p treatment. The mean score changes between the groups were not statistically significant; however, the decrease in the OSDI questionnaire score (-30.80 ±5.24) and 3rd OSDI question score (-2.82 ±0.53) were remarkable in group 1 (Table 2). The mean TBUT increase was +7.98 ±2.90 s and Schirmer's test result increase was +12.16 ±2.01 mm in group 1. The mean TBUT increase was +6.18 ±1.49 s and Schirmer's test result increase was +6.71 ±1.47 mm in group 2. These findings indicate that vitamin B12 deficiency is related with NOP. It may be important to consider measuring the serum vitamin B12 level in patients with severe DED presenting with resistant ocular pain despite taking topical treatment.

Vitamin A status affects the efficacy of iron repletion in rats with mild iron deficiency.

NARCIS (Netherlands)

Roodenburg, A.J.C.; West, C.E.; Beynen, A.C.

1996-01-01

In populations with vitamin A deficiency, vitamin A administration in addition to supplemental iron has been shown to further improve blood indicators of iron status. To obtain clues to associated changes at the level of organ indicators of iron status, we have attempted to mimic previous human

Data for the neutron interactions with 6Li and 10B

International Nuclear Information System (INIS)

Poenitz, W.P.

1984-01-01

The 10 B(n,α), 10 B(n,α 1 ) and, increasingly in more recent measurement, the 6 Li(n,α) cross sections are the major references used in low energy experiments. Many data from modern measurements are available for the neutron interaction with 6 Li, including total, scattering, and absolute and relative (n,α) cross sections. A consensus has been reached with these new 6 Li + n data. In contrast, the data base for the 10 B neutron interaction cross sections is unfortunately poor. This is even the case for the total cross section which is supposed to be the easiest quantity to be measured. The most serious deficiency is the absence of data from absolute measurements of the 10 B(n,α) and 10 B(n,α 1 ) cross sections in the last 10 to 15 years. The available cross section data which were used for the ENDF/B-VI evaluation will be discussed. 43 references

SERUM VITAMIN B12, IRON AND FOLIC ACID DEFICIENCIES IN OBESE INDIVIDUALS SUBMITTED TO DIFFERENT BARIATRIC TECHNIQUES.

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Silva, Rafaella de Andrade; Malta, Flávia Monteiro França; Correia, Maria Flora Ferreira Sampaio Carvalho; Burgos, Maria Goretti Pessoa de Araújo

Different surgical techniques to combat obesity combine malabsorption with restrictive procedures and can lead to metabolic problems, such as micronutrient deficiencies. Assess vitamin B12, iron and folic acid deficiencies associated with the lifestyle of obese individuals having been submitted to different bariatric techniques. A retrospective analysis was performed using the electronic charts of patients submitted to bariatric surgery involving adjustable gastric banding and Roux-en-Y gastric bypass at the São João Hospital Center in the city of Porto, Portugal, between 2005 and 2010. The following data were collected: surgical technique, sex, age, marital status, serum concentrations of vitamin B12, iron and folic acid and postoperative lifestyle. A 5% significance level was used for the statistical analysis (pmicronutrientes. Avaliar a deficiência de vitamina B12, ferro e ácido fólico e fatores associados ao estilo de vida de obesos submetidos a diferentes técnicas cirúrgicas. Análise retrospectiva dos prontuários eletrônicos de pacientes submetidos à cirurgia bariátrica pelas técnicas de banda gástrica ajustável e bypass gástrico em Y-de-Roux, no Centro Hospitalar de São João, E.P.E., Porto - Portugal, no período de 2005-2010. Foram coletadas: técnica cirúrgica, sexo, idade, estado civil, concentrações séricas de vitamina B12, ferro e ácido fólico e o estilo de vida no pós-operatório. Para análise estatística foi utilizado nível de significância de 5% (pmicronutrientes foram detectadas após o bypass gástrico. A deficiência de micronutriente mais prevalente foi a de ferro (21,3%), seguida da vitamina B12 (16,9%) e do ácido fólico (4,5%). A ingestão de bebida alcoólica de leve-moderada, a adesão à dieta e o uso de polivitamínicos reduziu a frequência, mas não evitou a carência de micronutrientes. A deficiência de vitamina B12, ferro e ácido fólico foi observada durante o primeiro e o segundo anos após as duas t

Toward Eradication of B-Vitamin Deficiencies: Considerations for Crop Biofortification

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Simon Strobbe

2018-04-01

Full Text Available ‘Hidden hunger’ involves insufficient intake of micronutrients and is estimated to affect over two billion people on a global scale. Malnutrition of vitamins and minerals is known to cause an alarming number of casualties, even in the developed world. Many staple crops, although serving as the main dietary component for large population groups, deliver inadequate amounts of micronutrients. Biofortification, the augmentation of natural micronutrient levels in crop products through breeding or genetic engineering, is a pivotal tool in the fight against micronutrient malnutrition (MNM. Although these approaches have shown to be successful in several species, a more extensive knowledge of plant metabolism and function of these micronutrients is required to refine and improve biofortification strategies. This review focuses on the relevant B-vitamins (B1, B6, and B9. First, the role of these vitamins in plant physiology is elaborated, as well their biosynthesis. Second, the rationale behind vitamin biofortification is illustrated in view of pathophysiology and epidemiology of the deficiency. Furthermore, advances in biofortification, via metabolic engineering or breeding, are presented. Finally, considerations on B-vitamin multi-biofortified crops are raised, comprising the possible interplay of these vitamins in planta.

Interleukin-6-deficient mice refractory to IgA dysregulation but not anorexia induction by vomitoxin (deoxynivalenol) ingestion.

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Pestka, J J; Zhou, H R

2000-07-01

Dietary exposure to the trichothecene vomitoxin (VT) causes feed refusal and elevates IgA production in the mouse. Based on the observations that IL-6 can cause anorexia and promote IgA production and that gene expression of this cytokine is increased in vivo and ex vivo on VT exposure, we hypothesized that IL-6 is an essential cytokine in VT-induced feed refusal and IgA dysregulation. To test this hypothesis, the effects of dietary VT on feed intake, weight gain, serum IgA levels and kidney mesangial IgA deposition in an IL-6-"knockout" mouse (B6129-IL6(tmi Kopf)) were compared to those in both a corresponding "wildtype" (B6129F2) and a previously characterized "sentinel" strain (B6C3F1) that possess the intact gene for this cytokine. IL-6 deficiency did not alter the capacity of VT to cause feed refusal or impair weight gain. VT-fed B6129F2 and B6C3F1 mice had significantly higher serum IgA concentrations than did their corresponding controls fed clean diet, whereas significant differences were not observed between IL-6 KO mice fed VT or control diets. Kidneys taken from VT-fed wild-type and sentinel mice had significantly increased mesangial IgA deposition as compared to controls. While slight increases in mesangial IgA were observed in VT-fed IL-6 KO mice, mean fluorescence intensities were significantly less than that found in the corresponding wild-type and sentinel strains. IL-6 KO mice appeared to be less prone to the development of microscopic haematuria following VT exposure than were the corresponding wild-type and sentinel strains. In total, the results suggested that IL-6-deficient mice were refractory to VT-induced dysregulation of IgA production and development of IgA nephropathy, whereas chronic VT-mediated nutritional effects related to feed intake and weight gain were unaffected.

Vitamin B12 deficiency presenting as an acute confusional state: a ...

African Journals Online (AJOL)

EB

2013-09-03

Sep 3, 2013 ... occurred following parenteral vitamin B12 replacement therapy. Conclusion: This case report highlights one of the neuro-psychiatric presentations of vitamin B12 deficiency .... and Occupational Health Abstract No:.

Selenium toxicity but not deficient or super-nutritional selenium status vastly alters the transcriptome in rodents

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Sunde Roger A

2011-01-01

Full Text Available Abstract Background Protein and mRNA levels for several selenoproteins, such as glutathione peroxidase-1 (Gpx1, are down-regulated dramatically by selenium (Se deficiency. These levels in rats increase sigmoidally with increasing dietary Se and reach defined plateaus at the Se requirement, making them sensitive biomarkers for Se deficiency. These levels, however, do not further increase with super-nutritional or toxic Se status, making them ineffective for detection of high Se status. Biomarkers for high Se status are needed as super-nutritional Se intakes are associated with beneficial as well as adverse health outcomes. To characterize Se regulation of the transcriptome, we conducted 3 microarray experiments in weanling mice and rats fed Se-deficient diets supplemented with up to 5 μg Se/g diet. Results There was no effect of Se status on growth of mice fed 0 to 0.2 μg Se/g diet or rats fed 0 to 2 μg Se/g diet, but rats fed 5 μg Se/g diet showed a 23% decrease in growth and elevated plasma alanine aminotransferase activity, indicating Se toxicity. Rats fed 5 μg Se/g diet had significantly altered expression of 1193 liver transcripts, whereas mice or rats fed ≤ 2 μg Se/g diet had Conclusion This study shows that Se toxicity (5 μg Se/g diet in rats vastly alters the liver transcriptome whereas Se-deficiency or high but non-toxic Se intake elicits relatively few changes. This is the first evidence that a vastly expanded number of transcriptional changes itself can be a biomarker of Se toxicity, and that identified transcripts can be used to develop molecular biomarker panels that accurately predict super-nutritional and toxic Se status.

Biochemical and cytochemical evaluation of heterozygote individuals with glucose-6-phosphate dehydrogenase deficiency

NARCIS (Netherlands)

Gurbuz, Nilgun; Aksu, Tevfik Aslan; van Noorden, Cornelis J. F.

2005-01-01

The aim of this study was to diagnose heterozygous glucose-6-phosphate dehydrogenase (G6PD) deficient females by an inexpensive cytochemical G6PD staining method that is easy to perform, allowing diagnosis of G6PD deficiency without cumbersome genetic analysis. Three subject groups were included in

Protection by meningococcal outer membrane protein PorA-specific antibodies and a serogroup B capsular polysaccharide-specific antibody in complement-sufficient and C6-deficient infant rats.

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Toropainen, Maija; Saarinen, Leena; Vidarsson, Gestur; Käyhty, Helena

2006-05-01

The relative contributions of antibody-induced complement-mediated bacterial lysis and antibody/complement-mediated phagocytosis to host immunity against meningococcal infections are currently unclear. Further, the in vivo effector functions of antibodies may vary depending on their specificity and Fc heavy-chain isotype. In this study, a mouse immunoglobulin G2a (mIgG2a) monoclonal antibody (MN12H2) to meningococcal outer membrane protein PorA (P1.16), its human IgG subclass derivatives (hIgG1 to hIgG4), and an mIgG2a monoclonal antibody (Nmb735) to serogroup B capsular polysaccharide (B-PS) were evaluated for passive protection against meningococcal serogroup B strain 44/76-SL (B:15:P1.7,16) in an infant rat infection model. Complement component C6-deficient (PVG/c-) rats were used to assess the importance of complement-mediated bacterial lysis for protection. The PorA-specific parental mIgG2a and the hIgG1 to hIgG3 derivatives all induced efficient bactericidal activity in vitro in the presence of human or infant rat complement and augmented bacterial clearance in complement-sufficient HsdBrlHan:WIST rats, while the hIgG4 was unable to do so. In C6-deficient PVG/c- rats, lacking complement-mediated bacterial lysis, the augmentation of bacterial clearance by PorA-specific mIgG2a and hIgG1 antibodies was impaired compared to that in the syngeneic complement-sufficient PVG/c+ rat strain. This was in contrast to the case for B-PS-specific mIgG2a, which conferred similar protective activity in both rat strains. These data suggest that while anti-B-PS antibody can provide protection in the infant rats without membrane attack complex formation, the protection afforded by anti-PorA antibody is more dependent on the activation of the whole complement pathway and subsequent bacterial lysis.

Predicting the Kinetic Properties Associated with Redox Imbalance after Oxidative Crisis in G6PD-Deficient Erythrocytes: A Simulation Study

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Hanae Shimo

2011-01-01

Full Text Available It is well known that G6PD-deficient individuals are highly susceptible to oxidative stress. However, the differences in the degree of metabolic alterations among patients during an oxidative crisis have not been extensively studied. In this study, we applied mathematical modeling to assess the metabolic changes in erythrocytes of various G6PD-deficient patients during hydrogen peroxide- (H2O2- induced perturbation and predict the kinetic properties that elicit redox imbalance after exposure to an oxidative agent. Simulation results showed a discrepancy in the ability to restore regular metabolite levels and redox homeostasis among patients. Two trends were observed in the response of redox status (GSH/GSSG to oxidative stress, a mild decrease associated with slow recovery and a drastic decline associated with rapid recovery. The former was concluded to apply to patients with severe clinical symptoms. Low max and high mG6P of G6PD were shown to be kinetic properties that enhance consequent redox imbalance.

The Relevance of Vitamin and Iron Deficiency in Patients with Inflammatory Bowel Diseases in Patients of the Swiss IBD Cohort.

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Madanchi, Matiar; Fagagnini, Stefania; Fournier, Nicolas; Biedermann, Luc; Zeitz, Jonas; Battegay, Edouard; Zimmerli, Lukas; Vavricka, Stephan R; Rogler, Gerhard; Scharl, Michael

2018-04-13

Vitamin and iron deficiencies are common in patients with inflammatory bowel disease (IBD) as a result of chronic intestinal inflammation, increase in demand, or dietary restrictions. Here, we assessed the frequency of complications in relation to deficiency of iron, folate acid, and vitamin B12 in patients enrolled in the nationwide Swiss Inflammatory Bowel Disease Cohort Study (SIBDCS). A total of 2666 patients were included in the study, 1558 with Crohn's disease (CD) and 1108 with ulcerative colitis (UC). Iron deficiency anemia was detected in 19.6% of CD patients and 21.6% of UC patients. In CD patients low BMI and nonsmoker status were positively associated with anemia. In both CD and UC, malabsorption syndrome, defined as failure of the GI tract to absorb 1 or more substances from the diet, was found to be significantly associated with anemia (6.2% and 3.8%, respectively) and current steroid use (40% CD, 52.7% UC). In CD patients with ileal (31.7% vs 20%) and colonic (29.9% vs 25%) disease location folate deficiency was significantly higher than in patients with ileocolonic CD or upper GI involvement. In CD patients, vitamin B12 deficiency was associated with the onset of stenosis and intestinal surgery (42.9% vs 32.8% and 46% vs 33% for patients with versus without B12 deficiency). Our data indicate that due to frequent occurrence of deficiency states, regular monitoring and substitution of vitamins and iron are mandatory and may prevent long-term intestinal and extraintestinal complications in IBD patients.

The human serum metabolome of vitamin B-12 deficiency and repletion, and associations with neurological function

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We characterize the human serum metabolome in sub-clinical vitamin B-12 (B-12) deficiency and repletion. A pre-post treatment study provided one injection of 10 mg B-12 to 27 community-dwelling elderly Chileans with B-12 deficiency evaluated with serum B-12, plasma homocysteine, methylmalonic acid a...

Dual pathology as a result of spinal stenosis and vitamin B12 deficiency.

Science.gov (United States)

Patel, Mohammed Shakil; Rasul, Zurqa; Sell, Philip

2011-12-01

Vitamin B12 deficiency can confound the clinical assessment of patients presenting with features of spinal disorders. Speciality practice within spinal surgery may lead the clinician to a focus upon spinal explanations for symptoms and that belief may be reinforced by supporting imaging. In the presence of mainly sensory symptoms consideration and exclusion of non surgical causes needs to occur. This study aimed at identifying the prevalence of vitamin B12 deficiency; the presence of dual pathology on imaging performed; the implementation of replacement therapy and their subsequent clinical response as perceived by patients. This was performed through a retrospective review of patients presenting to specialist spine out-patient clinics over a 4-year period via access to pathology reports followed by a telephone survey. 457 patients were investigated of which 8.5% were vitamin B12 deficient. 70% of patients had repeat levels and 31% continued to be deficient. 26% of these patients were not placed on any supplemental therapy. 72% of patients on treatment had self perceived improved outcomes as compared with 55% not on treatment. 73% of patients underwent MRI/CT imaging. 59% of which had evidence of spinal stenosis. In older patients with sensory symptoms, the coexistence of B12 deficiency should be considered. Detection of deficiency with consequent treatment results in better global outcomes than no treatment. Unless the correct blood test is done, the pathology will remain undetected, and patients may continue with their primary symptoms despite high-risk spinal surgical procedures.

[Neurological signs due to isolated vitamin B12 deficiency].

Science.gov (United States)

Martinez Estrada, K M; Cadabal Rodriguez, T; Miguens Blanco, I; García Méndez, L

2013-01-01

Isolated vitamin B12 deficiency is a common condition in elderly patients but uncommon in patients younger than 30 years, with an average age of onset between 60 and 70 years. This is because the dietary cobalamin, which is normally split by enzymes in meat in the presence of hydrochloric acid and pepsin in the stomach, is not released in the stomachs of elderly patients, usually due to achlorhydria. Although the body may be unable to release cobalamin it does retain the ability to absorb vitamin B12 in its crystalline form, which is present in multivitamin preparations. Other causes are due to drugs that suppress gastric acid production. Neurological signs of vitamin B12 deficiency can occur in patients with a normal haematocrit and red cell indices. They include paresthesia, loss of sensation and strength in the limbs, and ataxia. Reflexes may be slowed down or increased. Romberg and Babinsky signs may be positive, and vibration and position sensitivity often decreases. Behavoural disorders range from irritability and memory loss to severe dementia. The symptoms often do not fully respond to treatment. A case is presented of an isolated vitamin B12 deficiency in 27 year-old female patient who was seen in primary health care. During anamnesis she mentioned low back pain, to which she attributed the loss of strength and tenderness in the right side of the body, as well as the slow and progressive onset of accompanied headache for the previous 4 days. Copyright © 2012 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

Nutritional Risk, Micronutrient Status and Clinical Outcomes: A Prospective Observational Study in an Infectious Disease Clinic

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Oguzhan Sıtkı Dizdar

2016-02-01

Full Text Available Malnutrition has been associated with increased morbidity and mortality. The objective of this study was to determine the nutritional status and micronutrient levels of hospitalized patients in an infectious disease clinic and investigate their association with adverse clinical outcomes. The nutritional status of the study participants was assessed using the Nutritional Risk Screening 2002 (NRS 2002 and micronutrient levels and routine biochemical parameters were tested within the first 24 h of the patient’s admission. The incidence of zinc, selenium, thiamine, vitamin B6, vitamin B12 deficiency were 66.7% (n = 40, 46.6% (n = 29, 39.7% (n = 27, 35.3% (n = 24, 14.1% (n = 9, respectively. Selenium levels were significantly higher in patients with urinary tract infections, but lower in soft tissue infections. Copper levels were significantly higher in patients with soft tissue infections. In the Cox regression models, lower albumin, higher serum lactate dehydrogenase levels and higher NRS-2002 scores were associated with increased death. Thiamine, selenium, zinc and vitamin B6 deficiencies but not chromium deficiencies are common in infectious disease clinics. New associations were found between micronutrient levels and infection type and their adverse clinical outcomes. Hypoalbuminemia and a high NRS-2002 score had the greatest accuracy in predicting death, systemic inflammatory response syndrome and sepsis on admission.

Hypercholesterolemia and apolipoprotein B expression: Regulation by selenium status

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Bansal Mohinder P

2005-11-01

Full Text Available Abstract Background Apolipoprotein B (apoB contains ligand-binding domain for the binding of LDL to LDL-R site, which enables the removal of LDL from circulation. Our recent data showed that selenium (Se is involved in the lipid metabolism. The present study was aimed to understand the effect of Se deficiency (0.02 ppm and selenium supplementation (1 ppm on apoB expression in liver during hypercholesterolemia in male Sprague Dawley rats. Animals were fed with control and high cholesterol diet (2% for 1 and 2 months. ApoB levels by ELISA and protein expression by western blot was done. Hepatic LDL receptor (LDL-R activity (in vivo and mRNA expression by RT-PCR was monitored. Results In selenium deficiency and on high cholesterol diet (HCD feeding apoB levels increased and LDL-R expression decreased significantly after 2 months. On 1 ppm selenium supplementation apoB expression significantly decreased and LDL-R expression increased after 2 months. But after one month of treatment there was no significant change observed in apoB and LDL-R expression. Conclusion So the present study demonstrates that Se deficiency leads to up regulation of apoB expression during experimental hypercholesterolemia. Selenium supplementation upto 1 ppm leads to downregulation of apoB expression. Further, this study will highlight the nutritional value of Se supplementation in lipid metabolism.

Identifying activated T cells in reconstituted RAG deficient mice using retrovirally transduced Pax5 deficient pro-B cells.

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Nadesan Gajendran

Full Text Available Various methods have been used to identify activated T cells such as binding of MHC tetramers and expression of cell surface markers in addition to cytokine-based assays. In contrast to these published methods, we here describe a strategy to identify T cells that respond to any antigen and track the fate of these activated T cells. We constructed a retroviral double-reporter construct with enhanced green fluorescence protein (EGFP and a far-red fluorescent protein from Heteractis crispa (HcRed. LTR-driven EGFP expression was used to enrich and identify transduced cells, while HcRed expression is driven by the CD40Ligand (CD40L promoter, which is inducible and enables the identification and cell fate tracing of T cells that have responded to infection/inflammation. Pax5 deficient pro-B cells that can give rise to different hematopoietic cells like T cells, were retrovirally transduced with this double-reporter cassette and were used to reconstitute the T cell pool in RAG1 deficient mice that lack T and B cells. By using flow cytometry and histology, we identified activated T cells that had developed from Pax5 deficient pro-B cells and responded to infection with the bacterial pathogen Listeria monocytogenes. Microscopic examination of organ sections allowed visual identification of HcRed-expressing cells. To further characterize the immune response to a given stimuli, this strategy can be easily adapted to identify other cells of the hematopoietic system that respond to infection/inflammation. This can be achieved by using an inducible reporter, choosing the appropriate promoter, and reconstituting mice lacking cells of interest by injecting gene-modified Pax5 deficient pro-B cells.

Vitamin B12 deficiency results in severe oxidative stress, leading to memory retention impairment in Caenorhabditis elegans.

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Bito, Tomohiro; Misaki, Taihei; Yabuta, Yukinori; Ishikawa, Takahiro; Kawano, Tsuyoshi; Watanabe, Fumio

2017-04-01

Oxidative stress is implicated in various human diseases and conditions, such as a neurodegeneration, which is the major symptom of vitamin B 12 deficiency, although the underlying disease mechanisms associated with vitamin B 12 deficiency are poorly understood. Vitamin B 12 deficiency was found to significantly increase cellular H 2 O 2 and NO content in Caenorhabditis elegans and significantly decrease low molecular antioxidant [reduced glutathione (GSH) and L-ascorbic acid] levels and antioxidant enzyme (superoxide dismutase and catalase) activities, indicating that vitamin B 12 deficiency induces severe oxidative stress leading to oxidative damage of various cellular components in worms. An NaCl chemotaxis associative learning assay indicated that vitamin B 12 deficiency did not affect learning ability but impaired memory retention ability, which decreased to approximately 58% of the control value. When worms were treated with 1mmol/L GSH, L-ascorbic acid, or vitamin E for three generations during vitamin B 12 deficiency, cellular malondialdehyde content as an index of oxidative stress decreased to the control level, but the impairment of memory retention ability was not completely reversed (up to approximately 50%). These results suggest that memory retention impairment formed during vitamin B 12 deficiency is partially attributable to oxidative stress. Copyright © 2016 The Authors. Published by Elsevier B.V. All rights reserved.

Metabolic disorders and nutritional status in autoimmune thyroid diseases

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Anna Kawicka

2015-01-01

Full Text Available In recent years, the authors of epidemiological studies have documented that autoimmune diseases are a major problem of modern society and are classified as diseases of civilization. Autoimmune thyroid diseases (ATDs are caused by an abnormal immune response to autoantigens present in the thyroid gland – they often coexist with other autoimmune diseases. The most common dysfunctions of the thyroid gland are hypothyroidism, Graves-Basedow disease and Hashimoto’s disease. Hashimoto’s thyroiditis can be the main cause of primary hypothyroidism of the thyroid gland. Anthropometric, biochemical and physicochemical parameters are used to assess the nutritional status during the diagnosis and treatment of thyroid diseases. Patients with hypothyroidism are often obese, whereas patients with hyperthyroidism are often afflicted with rapid weight loss. The consequence of obesity is a change of the thyroid hormones’ activity; however, weight reduction leads to their normalization. The activity and metabolic rate of thyroid hormones are modifiable. ATDs are associated with abnormalities of glucose metabolism and thus increased risk of developing diabetes mellitus type 1 and type 2. Celiac disease (CD also increases the risk of developing other autoimmune diseases. Malnutrition or the presence of numerous nutritional deficiencies in a patient’s body can be the cause of thyroid disorders. Coexisting deficiencies of such elements as iodine, iron, selenium and zinc may impair the function of the thyroid gland. Other nutrient deficiencies usually observed in patients suffering from ATD are: protein deficiencies, vitamin deficiencies (A, C, B6, B5, B1 and mineral deficiencies (phosphorus, magnesium, potassium, sodium, chromium. Proper diet helps to reduce the symptoms of the disease, maintains a healthy weight and prevents the occurrence of malnutrition. This article presents an overview of selected documented studies and scientific reports on the

[Metabolic disorders and nutritional status in autoimmune thyroid diseases].

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Kawicka, Anna; Regulska-Ilow, Bożena; Regulska-Ilow, Bożena

2015-01-02

In recent years, the authors of epidemiological studies have documented that autoimmune diseases are a major problem of modern society and are classified as diseases of civilization. Autoimmune thyroid diseases (ATDs) are caused by an abnormal immune response to autoantigens present in the thyroid gland - they often coexist with other autoimmune diseases. The most common dysfunctions of the thyroid gland are hypothyroidism, Graves-Basedow disease and Hashimoto's disease. Hashimoto's thyroiditis can be the main cause of primary hypothyroidism of the thyroid gland. Anthropometric, biochemical and physicochemical parameters are used to assess the nutritional status during the diagnosis and treatment of thyroid diseases. Patients with hypothyroidism are often obese, whereas patients with hyperthyroidism are often afflicted with rapid weight loss. The consequence of obesity is a change of the thyroid hormones' activity; however, weight reduction leads to their normalization. The activity and metabolic rate of thyroid hormones are modifiable. ATDs are associated with abnormalities of glucose metabolism and thus increased risk of developing diabetes mellitus type 1 and type 2. Celiac disease (CD) also increases the risk of developing other autoimmune diseases. Malnutrition or the presence of numerous nutritional deficiencies in a patient's body can be the cause of thyroid disorders. Coexisting deficiencies of such elements as iodine, iron, selenium and zinc may impair the function of the thyroid gland. Other nutrient deficiencies usually observed in patients suffering from ATD are: protein deficiencies, vitamin deficiencies (A, C, B6, B5, B1) and mineral deficiencies (phosphorus, magnesium, potassium, sodium, chromium). Proper diet helps to reduce the symptoms of the disease, maintains a healthy weight and prevents the occurrence of malnutrition. This article presents an overview of selected documented studies and scientific reports on the relationship of metabolic

The effect of ingested sulfite on visual evoked potentials, lipid peroxidation, and antioxidant status of brain in normal and sulfite oxidase-deficient aged rats.

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Ozsoy, Ozlem; Aras, Sinem; Ozkan, Ayse; Parlak, Hande; Aslan, Mutay; Yargicoglu, Piraye; Agar, Aysel

2016-07-01

Sulfite, commonly used as a preservative in foods, beverages, and pharmaceuticals, is a very reactive and potentially toxic molecule which is detoxified by sulfite oxidase (SOX). Changes induced by aging may be exacerbated by exogenous chemicals like sulfite. The aim of this study was to investigate the effects of ingested sulfite on visual evoked potentials (VEPs) and brain antioxidant statuses by measuring superoxide dismutase (SOD), catalase (CAT), and glutathione peroxidase (GPx) activities. Brain lipid oxidation status was also determined via thiobarbituric acid reactive substances (TBARS) in normal- and SOX-deficient aged rats. Rats do not mimic the sulfite responses seen in humans because of their relatively high SOX activity level. Therefore this study used SOX-deficient rats since they are more appropriate models for studying sulfite toxicity. Forty male Wistar rats aged 24 months were randomly assigned to four groups: control (C), sulfite (S), SOX-deficient (D) and SOX-deficient + sulfite (DS). SOX deficiency was established by feeding rats with low molybdenum (Mo) diet and adding 200 ppm tungsten (W) to their drinking water. Sulfite in the form of sodium metabisulfite (25 mg kg(-1) day(-1)) was given by gavage. Treatment continued for 6 weeks. At the end of the experimental period, flash VEPs were recorded. Hepatic SOX activity was measured to confirm SOX deficiency. SOX-deficient rats had an approximately 10-fold decrease in hepatic SOX activity compared with the normal rats. The activity of SOX in deficient rats was thus in the range of humans. There was no significant difference between control and treated groups in either latence or amplitude of VEP components. Brain SOD, CAT, and GPx activities and brain TBARS levels were similar in all experimental groups compared with the control group. Our results indicate that exogenous administration of sulfite does not affect VEP components and the antioxidant/oxidant status of aged rat brains. © The Author

Vitamin B6

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... Consumer Datos en español Health Professional Other Resources Vitamin B6 Fact Sheet for Consumers Have a question? ... out more about vitamin B6? Disclaimer What is vitamin B6 and what does it do? Vitamin B6 ...

Glucose 6-phosphate dehydrogenase deficiency and cystic fibrosis

OpenAIRE

Congdon, P. J.; Aggarwal, R. K.; Littlewood, J. M.; Shapiro, H.

1981-01-01

A child born to Pakistani parents is described. He had both cystic fibrosis and G-6PD-deficiency. So far as can be ascertained, the occurrence of both these conditions in the same individual has not previously been reported.

Iron, folacin, vitamin B12 and zinc status and immune response in elderly subjects in the Washington D.C. metropolitan area

International Nuclear Information System (INIS)

Henry-Christian, J.R.

1986-01-01

The iron, folacin, vitamin B 12 , and zinc status of a group of economically and socially disadvantaged elderly persons in the Washington Metropolitan Area was evaluated. Factors related to deficiencies of these nutrients, the relationships between the status of these nutrients and cell-mediated immunity, and the relationships of iron, folacin and vitamin B 12 status to hemoglobin levels in the subjects were also examined. It was also determined whether there were any interactions among iron, folacin, vitamin B 12 and zinc status in their relationships to cell-mediated immunity. Socio-demographic and nutritional data on the subjects were obtained using a questionnaire. Dietary data were obtained using a dietary record. A fasting blood sample was drawn and the levels of ferritin, folate and vitamin B 12 , and the erythrocyte levels of folate were determined by radioassay. Plasma and hair zinc levels were determined by atomic absorption spectrophotometry. Cell-mediated immune response was determined by transformation of peripheral blood lymphocytes after stimulation by mitogens, and by allogenic lymphocytes in the mixed lymphocyte reaction

Severe osteogenesis imperfecta in cyclophilin B-deficient mice.

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Jae Won Choi

2009-12-01

Full Text Available Osteogenesis Imperfecta (OI is a human syndrome characterized by exquisitely fragile bones due to osteoporosis. The majority of autosomal dominant OI cases result from point or splice site mutations in the type I collagen genes, which are thought to lead to aberrant osteoid within developing bones. OI also occurs in humans with homozygous mutations in Prolyl-3-Hydroxylase-1 (LEPRE1. Although P3H1 is known to hydroxylate a single residue (pro-986 in type I collagen chains, it is unclear how this modification acts to facilitate collagen fibril formation. P3H1 exists in a complex with CRTAP and the peptidyl-prolyl isomerase cyclophilin B (CypB, encoded by the Ppib gene. Mutations in CRTAP cause OI in mice and humans, through an unknown mechanism, while the role of CypB in this complex has been a complete mystery. To study the role of mammalian CypB, we generated mice lacking this protein. Early in life, Ppib-/- mice developed kyphosis and severe osteoporosis. Collagen fibrils in Ppib-/- mice had abnormal morphology, further consistent with an OI phenotype. In vitro studies revealed that in CypB-deficient fibroblasts, procollagen did not localize properly to the golgi. We found that levels of P3H1 were substantially reduced in Ppib-/- cells, while CRTAP was unaffected by loss of CypB. Conversely, knockdown of either P3H1 or CRTAP did not affect cellular levels of CypB, but prevented its interaction with collagen in vitro. Furthermore, knockdown of CRTAP also caused depletion of cellular P3H1. Consistent with these changes, post translational prolyl-3-hydroxylation of type I collagen by P3H1 was essentially absent in CypB-deficient cells and tissues from CypB-knockout mice. These data provide significant new mechanistic insight into the pathophysiology of OI and reveal how the members of the P3H1/CRTAP/CypB complex interact to direct proper formation of collagen and bone.

Severe osteogenesis imperfecta in cyclophilin B-deficient mice.

Science.gov (United States)

Choi, Jae Won; Sutor, Shari L; Lindquist, Lonn; Evans, Glenda L; Madden, Benjamin J; Bergen, H Robert; Hefferan, Theresa E; Yaszemski, Michael J; Bram, Richard J

2009-12-01

Osteogenesis Imperfecta (OI) is a human syndrome characterized by exquisitely fragile bones due to osteoporosis. The majority of autosomal dominant OI cases result from point or splice site mutations in the type I collagen genes, which are thought to lead to aberrant osteoid within developing bones. OI also occurs in humans with homozygous mutations in Prolyl-3-Hydroxylase-1 (LEPRE1). Although P3H1 is known to hydroxylate a single residue (pro-986) in type I collagen chains, it is unclear how this modification acts to facilitate collagen fibril formation. P3H1 exists in a complex with CRTAP and the peptidyl-prolyl isomerase cyclophilin B (CypB), encoded by the Ppib gene. Mutations in CRTAP cause OI in mice and humans, through an unknown mechanism, while the role of CypB in this complex has been a complete mystery. To study the role of mammalian CypB, we generated mice lacking this protein. Early in life, Ppib-/- mice developed kyphosis and severe osteoporosis. Collagen fibrils in Ppib-/- mice had abnormal morphology, further consistent with an OI phenotype. In vitro studies revealed that in CypB-deficient fibroblasts, procollagen did not localize properly to the golgi. We found that levels of P3H1 were substantially reduced in Ppib-/- cells, while CRTAP was unaffected by loss of CypB. Conversely, knockdown of either P3H1 or CRTAP did not affect cellular levels of CypB, but prevented its interaction with collagen in vitro. Furthermore, knockdown of CRTAP also caused depletion of cellular P3H1. Consistent with these changes, post translational prolyl-3-hydroxylation of type I collagen by P3H1 was essentially absent in CypB-deficient cells and tissues from CypB-knockout mice. These data provide significant new mechanistic insight into the pathophysiology of OI and reveal how the members of the P3H1/CRTAP/CypB complex interact to direct proper formation of collagen and bone.

SCREENING OF 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE ACTIVITY DEFICIENCY AMONG HYPERP HENYLALANINEMIC PATIENTS

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DURDI QUJEQ

1999-10-01

Full Text Available A deficiency of the phenylalanine hydroxylase activity or its cofactor tetrahydrobiopterin may"nlead to hyperphenylalamnemia and as a result, loss of IQ, poor school performance, and"nbehavior problems occurs. Deficiency in 6-pyruvoyl-tetrahydropterin synthase activity is the"nmajor cause of tetrahydrobiopterin deficient phenylketonuria. In this study, blood specimens"nfrom 165 healthy volunteers and 127 children with phenylketonuria were used to determine"nthe 6-pyruvoyl-tetrahydropterin synthase activity. It was found that the activity of 6-"npyruvoyl- tetrahydropterin synthase was decreased in comparison with control [23.46 +/-"n2.94, (mean +/- SD, mmol/ ml/h, n=I27 vs. 127.63 +/- 4.52, n=165, p<0.05]. Results of"nthis study indicate that examination of 6-pyruvoyl-tetrahydropterin synthase activity is helpful"nand may lead to the diagnosis cause of hyperphenylalaninemia.

Modulation of low dose radiation effect on pentose phosphate pathway enzymes by B-multivitamin deficiency

International Nuclear Information System (INIS)

Zimatkina, T.I.; Lashak, L.K.; Moiseenok, A.G.

1997-01-01

Blood, liver, thymus and spleen of albino rats injected subcutaneously with antivitamins (othythiamine and methotrexate) and subjected to prolonger γ-irradiation in the overall dose of 0.75 Gy were assayed for transketolase and glucose-6-phosphate dehydrogenase after 12h, 1, 2, 5 and 40 days from the last radiation dose. High transketolase sensitivity was found both to radiation (activation) and the combined effects of vitamin deficiency and radiation (potentiation of antivitamin inhibitory action) in all the tissues studied. The activity of glucose-6-phosphate dehydrogenase was little changed under the given experimental manipulations, but the combined effect of the factors considerably inhibited the enzyme activities in the organs of the immune system. Consequently, in B-multivitamin deficiency the effect of low radiation doses was subjected to a considerable modulation resulting in profound inhibition of the oxidation and nonoxidative branches of the pentose phosphate pathway. (author). 9 refs, 2 tabs

Polymorphisms and mutations of human TMPRSS6 in iron deficiency anemia.

NARCIS (Netherlands)

Beutler, E.; Geet, C. Van; Loo, D.M.W.M. te; Gelbart, T.; Crain, K.; Truksa, J.; Lee, P.L.

2010-01-01

Male subjects with iron deficiency from the general population were examined for polymorphisms or sporadic mutations in TMPRSS6 to identify genetic risk factors for iron deficiency anemia. Three uncommon non-synonymous polymorphisms were identified, G228D, R446W, and V795I (allele frequencies

Evaluation of Nutritional Status Post Laparoscopic Sleeve Gastrectomy-5-Year Outcomes.

Science.gov (United States)

Al-Mutawa, Aliaa; Al-Sabah, Salman; Anderson, Alfred Kojo; Al-Mutawa, Mohammad

2017-12-01

Obesity is considered a public health problem and has led to advancements in bariatric surgery. Laparoscopic sleeve gastrectomy (LSG) had become the most performed procedure worldwide; however, its consequences on nutritional status in the short and long term are of concern. A retrospective analysis of medical records and bariatric database of patients who underwent LSG from October 2008-September 2015 at Al-Amiri Hospital, Kuwait, was performed. Data regarding nutritional status along with demographic data were collected over a 5-year follow-up period. One thousand seven hundred ninety-three patients comprising of 74% females and 26% males were included. The greatest % total body weight loss (%TBWL) was at 18 months post-LSG (33%), corresponding to a % excess weight loss (%EWL) of 73.8%. With regard to nutritional status, vitamin B1 showed a significant drop at 3-5 years post-op in comparison to pre-op value, but stayed within the normal range throughout the study. Red blood cells count, hemoglobin, and hematocrit also showed a significant drop starting from 6 months post-op until the fifth year of follow-up. On the other hand, vitamins B6 and B12 showed a significant increase at 6 months post-op and decreased afterwards, but did not reach pre-op values. Vitamin D also showed a significant increase throughout the study period from deficient value at the pre-op time, but remained insufficient. Albumin, transferrin, folate, ferritin, iron, and vitamin B2 showed no significant changes at 5 years post-LSG compared to pre-op values. Little is known about the nutritional status and optimal nutritional care plan post-LSG, especially in the longer term. Nutritional deficiencies were prevalent prior and post-LSG. Some of the nutritional parameters improved and even reached the abnormal high level post-LSG. These observations highlight the importance of pre- and post-operative nutritional assessment and tailored supplementation to ensure optimal nutritional status.

Vitamin B12 Deficiency in Persons with Intellectual Disability in a Vegetarian Residential Care Community

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Mohammed Morad

2005-01-01

Full Text Available The goal of this study was to determine the prevalence of vitamin B12 deficiency among intellectually disabled persons in a vegetarian remedial community in Israel. In this community, 47 individuals with intellectual disability (ID live in 7 enlarged families in a kibbutz style agricultural setting. These 47 individuals and 17 of their caregivers were screened for vitamin B12 deficiency. There were 25.5% of the disabled vs. 11.8% of the caregivers found to have levels of vitamin B12 lower than 157 pg/ml. It is concluded that persons with ID in this vegetarian residential care community seemed to be at a higher risk for vitamin B12 deficiency.

CT study of infantile cerebral vitamin B1 deficiency (analysis of 22 cases)

International Nuclear Information System (INIS)

Liu Bin; Xi Meifang; Wang Mengding; Wang Chaoxiu

1998-01-01

Purpose: To study the CT features of infantile cerebral vitamin B 1 deficiency. Methods: The authors retrospectively reviewed the clinical manifestations and CT findings of 22 cases of infantile vitamin B 1 deficiency. Results: The main clinical signs were seizure malaise dullness and vomiting. CT scans showed bilateral symmetrical hypodense foci in lenticular nucleus (20/22), head of caudate nucleus (15/22), thalamus (3/22), anterior limb of internal capsule (4/22), external capsule (1/22) and para-ventricle white matter (2/22), and in many cases, signs of cerebral atrophy. 22 cases received thiamine treatment and were fully recovered. Conclusion: The authors concluded that bilateral symmetric hypodense foci in lenticular nucleus thalamus, head of caudate nucleus, anterior limb of internal capsule, external capsule and para-ventricle white matter were important CT signs suggestive of infantile cerebral vitamin B 1 deficiency

Total serum homocysteine as an indicator of vitamin B12 and folate status

International Nuclear Information System (INIS)

Chu, R.C.; Hall, C.A.

1988-01-01

Presented is a modification of an assay for total serum homocysteine (Hcy) in which the Hcy plus radioactive adenosine is converted enzymatically to labeled S-adenosylhomocysteine (AdoHcy). The modifications included a commerical source for the AdoHcy hydrolase, adenosine labeled with either 14 C or 3 H, and separation of the AdoHcy by thin layer chromatography. The assay was sensitive to 25 pmol. Hcy levels in sera from 18 controls ranged from 6.9 to 12.1 mumol/L with a mean of 9.1 and a SD of 1.5 mumol/L. The total serum Hcy was increased in vitamin B12 and folate deficiency. The level was high in congenital defects of vitamin B12 metabolism, blocking the methylation of Hcy regardless of the serum vitamin B12 levels, but was normal in the absence of tissue deficiency even if the serum vitamin B12 levels were low. The procedure has been found practical in two years of use and requires only 0.1 mL of serum

Deficiências de macronutrientes no estado nutricional da mamoneira cultivar Iris Deficiencies of macronutrients on nutritional status of castor bean cultivar Iris

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José Lavres Junior

2005-02-01

Full Text Available Os objetivos deste trabalho foram avaliar o efeito da deficiência dos macronutrientes no crescimento e estado nutricional da mamoneira (Ricinus communis L. e a obtenção do quadro sintomatológico das deficiências de N, P, K, Ca, Mg e S. Cultivou-se Ricinus communis L. cultivar Iris em solução nutritiva, tendo como tratamentos soluções completa e deficientes em N, P, K, Ca, Mg e S. Foram determinadas a concentração indireta de clorofila, a atividade da redutase do nitrato, os teores solúveis de N (NO3-, P (H2PO4- e K+ e realizados testes rápidos para N, P e K. As deficiências de N, Ca, S e Mg foram as que mais restringiram a produção de massa de matéria seca, na ordem decrescente: N>Ca>S>Mg>K>P. Os maiores acúmulos de macronutrientes, no tratamento completo, foram observados nas raízes e no limbo das folhas inferiores. As concentrações críticas para N e Ca, ambas no limbo das folhas superiores e, Mg, no pecíolo das inferiores foram, respectivamente, 46,7, 13,8 e 6,5 g kg-1. As deficiências influenciaram as leituras do clorofilômetro. A atividade da redutase do nitrato guardou relação direta com a determinação da clorofila. Os teores de N (NO3-, P (H2PO4- e K+ foram menores nas folhas deficientes em N, P e K, respectivamente, o mesmo acontecendo quando avaliadas pela análise de toque.The objectives of this work were to evaluate the effect of macronutrient deficiencies on growth and on nutritional status of castor beans (Ricinus communis L., and to obtain the symptoms of the lack of N, P, K, Ca, Mg and S. Nutrient solutions containing all macronutrients and those from which one of these elements was omitted were the treatments used. The following determinations were made: chlorophyll (indirectly, nitrate reductase activity, NO3--N, H2PO4--P and K+, both on soluble fractions, and by spot tests. Deficiencies of N, Ca, S and Mg were the most limiting for dry matter production, followed in decreasing order by those of K and

Prevalence of thalassaemia, iron-deficiency anaemia and glucose-6-phosphate dehydrogenase deficiency among Arab migrating nomad children, southern Islamic Republic of Iran.

Science.gov (United States)

Pasalar, M; Mehrabani, D; Afrasiabi, A; Mehravar, Z; Reyhani, I; Hamidi, R; Karimi, M

2014-12-17

This study investigated the prevalence of iron-deficiency anaemia, glucose-6-phosphate dehydrogenase (G6PD) deficiency and β-thalassaemia trait among Arab migrating nomad children in southern Islamic Republic of Iran. Blood samples were analysed from 134 schoolchildren aged child had G6PD deficiency. A total of 9.7% of children had HbA2 ≥ 3.5 g/dL, indicating β-thalassaemia trait (10.8% in females and 7.8% in males). Mean serum iron, serum ferritin and total iron binding capacity were similar in males and females. Serum ferritin index was as accurate as Hb index in the diagnosis of iron-deficiency anaemia. A high prevalence of β-thalassaemia trait was the major potential risk factor in this population.

Folic acid fortification: why not vitamin B12 also?

Science.gov (United States)

Selhub, Jacob; Paul, Ligi

2011-01-01

Folic acid fortification of cereal grains was introduced in many countries to prevent neural tube defect occurrence. The metabolism of folic acid and vitamin B12 intersect during the transfer of the methyl group from 5-methyltetrahydrofolate to homocysteine catalyzed by B12-dependent methioine synthase. Regeneration of tetrahydrofolate via this reaction makes it available for synthesis of nucleotide precursors. Thus either folate or vitamin B12 deficiency can result in impaired cell division and anemia. Exposure to extra folic acid through fortification may be detrimental to those with vitamin B12 deficiency. Among participants of National Health And Nutrition Examination Survey with low vitamin B12 status, high serum folate (>59 nmol/L) was associated with higher prevalence of anemia and cognitive impairment when compared with normal serum folate. We also observed an increase in the plasma concentrations of total homocysteine and methylmalonic acid (MMA), two functional indicators of vitamin B12 status, with increase in plasma folate under low vitamin B12 status. These data strongly imply that high plasma folate is associated with the exacerbation of both the biochemical and clinical status of vitamin B12 deficiency. Hence any food fortification policy that includes folic acid should also include vitamin B12. Copyright © 2011 International Union of Biochemistry and Molecular Biology, Inc.

Vegetarer har høj risiko for at få B12-vitaminmangel

DEFF Research Database (Denmark)

Javid, Parva; Christensen, Erik

2016-01-01

Since vegetarians have a lower intake of vitamin B12 (B12) than non-vegetarians, they are at increased risk of developing B12 deficiency. The less animal products the food contains the worse the B12 status. However, even lacto-ovo-vegetarians run the risk of becoming deficient in B12. Vegetarians...... are recommended regularly to take supplements of B12, and they should be informed of the lacking content of B12 of plant products and the hazards of B12 deficiency. Furthermore, vegetarians should routinely be checked for possible B12 deficiency....

Mood disorder with mixed, psychotic features due to vitamin b12 deficiency in an adolescent: case report

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Tufan Ali

2012-06-01

Full Text Available Abstract Vitamin B12 is one of the essential vitamins affecting various systems of the body. Reports of psychiatric disorders due to its deficiency mostly focus on middle aged and elderly patients. Here we report a case of vitamin B 12 deficiency in a 16-year old, male adolescent who presented with mixed mood disorder symptoms with psychotic features. Chief complaints were “irritability, regressive behavior, apathy, crying and truancy” which lasted for a year. Premorbid personality was unremarkable with no substance use/exposure or infections. No stressors were present. The patient was not vegetarian. Past medical history and family history was normal. Neurological examination revealed glossitis, ataxia, rigidity in both shoulders, cog-wheel rigidity in the left elbow, bilateral problems of coordination in cerebellar examination, reduced swinging of the arms and masked face. Romberg’s sign was present. Laboratory evaluations were normal. Endoscopy and biopsy revealed atrophy of the gastric mucosa with Helicobacter Pylori colonization. Schilling test was suggestive of malabsorbtion. He was diagnosed with Mood disorder with Mixed, Psychotic Features due to Vitamin B12 Deficiency and risperidone 0.5 mg/day and intramuscular vitamin B12 500 mcg/day were started along with referral for treatment of Helicobacter pylori. A visit on the second week revealed no psychotic features. Romberg’s sign was negative and cerebellar tests were normal. Extrapyramidal symptoms were reduced while Vitamin B12 levels were elevated. Risperidone was stopped and parenteral Vitamin B12 treatment was continued with monthly injections for 3 months. Follow-up endoscopy and biopsy at the first month demonstrated eradication of H. pylori. He was followed monthly for another 6 months and psychiatric symptoms did not recur at the time of last evaluation. Despite limitations, this case may underline the observation that mood disorders with psychotic features

Exhaustion of CTL memory and recrudescence of viremia in lymphocytic choriomeningitis virus-infected MHC class II-deficient mice and B cell-deficient mice

DEFF Research Database (Denmark)

Thomsen, Allan Randrup; Johansen, J; Marker, O

1996-01-01

To study the contribution of CD4+ T cells and B cells to antiviral immunity and long term virus control, MHC class II-deficient and B cell-deficient mice were infected with lymphocytic choriomeningitis virus. In class II-deficient mice, which lack CD4+ T cells, the primary CTL response is virtually...... this phenomenon could reflect participation of B cells and/or Abs in long term virus control, similar experiments were performed with mice that do not have mature B cells because of a disrupted membrane exon of the mu chain gene. In these mice, the cell-mediated immune response was slightly delayed, but transient...... and that in their absence, the virus-specific CTL potential becomes exhausted. Together our results indicate that while CD8+ cells play a dominant role in acute virus control, all three major components of the immune system are required for long term virus control....

STAT6 deficiency ameliorates Graves' disease severity by suppressing thyroid epithelial cell hyperplasia.

Science.gov (United States)

Jiang, Xuechao; Zha, Bingbing; Liu, Xiaoming; Liu, Ronghua; Liu, Jun; Huang, Enyu; Qian, Tingting; Liu, Jiajing; Wang, Zhiming; Zhang, Dan; Wang, Luman; Chu, Yiwei

2016-12-01

Signal transducer and activator of transcription 6 (STAT6) is involved in epithelial cell growth. However, little is known regarding the STAT6 phosphorylation status in Graves' disease (GD) and its role in thyroid epithelial cells (TECs). In this study, we found that STAT6 phosphorylation (p-STAT6) was significantly increased in TECs from both GD patients and experimental autoimmune Graves' disease mice and that STAT6 deficiency ameliorated GD symptoms. Autocrine IL-4 signalling in TECs activated the phosphorylation of STAT6 via IL-4 R engagement, and the downstream targets of STAT6 were Bcl-xL and cyclin D1. Thus, the IL-4-STAT6-Bcl-xL/cyclin D1 pathway is crucial for TEC hyperplasia, which aggravates GD. More importantly, in vitro and in vivo experiments demonstrated that STAT6 phosphorylation inhibited by AS1517499 decreased TEC hyperplasia, thereby reducing serum T3 and T4 and ameliorating GD. Thus, our study reveals that in addition to the traditional pathogenesis of GD, in which autoantibody TRAb stimulates thyroid-stimulating hormone receptors and consequently produces T3, T4, TRAb could also trigger TECs producing IL-4, and IL-4 then acts in an autocrine manner to activate p-STAT6 signalling and stimulate unrestricted cell growth, thus aggravating GD. These findings suggest that STAT6 inhibitors could be potent therapeutics for treating GD.

Rasburicase-induced Hemolytic Anemia in an Adolescent With Unknown Glucose-6-Phosphate Dehydrogenase Deficiency.

Science.gov (United States)

Akande, Manzilat; Audino, Anthony N; Tobias, Joseph D

2017-01-01

Rasburicase, used in the prevention and treatment of tumor lysis syndrome (TLS), may cause hemolytic anemia and methemoglobinemia in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Although routine screening for G6PD deficiency has been recommended, given the turnaround time for test results and the urgency to treat TLS, such screening may not be feasible. We report a case of rasburicase-induced hemolytic anemia without methemoglobinemia in an adolescent with T-cell lymphoblastic lymphoma, TLS, and previously unrecognized G6PD deficiency. Previous reports of hemolytic anemia with rasburicase are reviewed, mechanisms discussed, and preventative strategies presented.

Experimental status of B decays

International Nuclear Information System (INIS)

Horwitz, N.

1987-01-01

This paper reviews the status of a number of current B-meson decay topics. Topics reviewed are: B reconstruction, penguins and rare decay modes, is there a charm deficit?, V ub /V bc , new limit on FCNC. Results are presented

Protein tyrosine phosphatase 1B deficiency ameliorates murine experimental colitis via the expansion of myeloid-derived suppressor cells.

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Jing Zhang

Full Text Available Protein tyrosine phosphatase 1B (PTP1B is a key molecule in modulating low-degree inflammatory conditions such as diabetes. The role of PTP1B in other chronic inflammations, however, remains unknown. Here, we report that PTP1B deficiency ameliorates Dextran Sulfate Sodium (DSS-induced murine experimental colitis via expanding CD11b(+Gr-1(+ myeloid-derived suppressor cells (MDSCs. Employing DSS-induced murine experimental colitis as inflammatory animal model, we found that, compared with wild-type littermates, PTP1B-null mice demonstrated greater resistance to DSS-induced colitis, as reflected by slower weight-loss, greater survival rates and decreased PMN and macrophage infiltration into the colon. The evidence collectively also demonstrated that the resistance of PTP1B-null mice to DSS-induced colitis is based on the expansion of MDSCs. First, PTP1B-null mice exhibited a greater frequency of MDSCs in the bone marrow (BM, peripheral blood and spleen when compared with wild-type littermates. Second, PTP1B levels in BM leukocytes were significantly decreased after cells were induced into MDSCs by IL-6 and GM-CSF, and the MDSC induction occurred more rapidly in PTP1B-null mice than in wild-type littermates, suggesting PTP1B as a negative regulator of MDSCs. Third, the adoptive transfer of MDSCs into mice with DSS-colitis significantly attenuated colitis, which accompanies with a decreased serum IL-17 level. Finally, PTP1B deficiency increased the frequency of MDSCs from BM cells likely through enhancing the activities of signal transducer and activator of transcription 3 (STAT3 and Janus kinase 2 (JAK2. In conclusion, our study provides the first evidences that PTP1B deficiency ameliorates murine experimental colitis via expanding MDSCs.

THE ASSOCIATION BETWEEN G6PD DEFICIENCY AND TOTAL SERUM BILIRUBIN LEVEL IN ICTERIC NEONATES

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S. Behjati-Ardakani

2007-07-01

Full Text Available "nGlucose-6-phosphate dehydrogenase (G6PD deficiency is the most important disease of the hexose monophosphate pathway. Deficiency of this enzym can lead to hemolysis of red blood cells. Our aim was to study the prevalence of G6PD deficiency in relation to neonatal jaundice. We studied 456 clinically icteric neonates Laboratory investigations included determination of direct and indirect serum bilirubin concentrations, blood group typing, direct coomb's test, hemoglobin, blood smear, reticulocyte count and G6PD level. We divided these neonates to 3 groups based on total serum bilirubin level (TSB: TSB< 20 mg%, TSB=20-25 mg%, and TSB>25 mg%. In only 35 (7.6% of cases G6PD deficiency was diagnosed. All of these babies were male. From 456 icteric neonates, 213 cases belong to group 1 (TSB<20 mg%, 158 cases belong to group 2 (TSB=20-25 mg% and 85 cases belong to group 3 (TSB>25 mg%. 16 neonates from 213 neonates of group 1, 6 neonates from 158 neonates of group 2 and 13 neonates from 85 neonates of group 3 had G6PD deficiency. There was statistically significant difference of prevalence of G6PD deficiency between group 2 and 3 ( 15.3% vs 3.8%( P = 0.001. Between groups 1 vs 2 and 1 vs 3 no statistically significant difference was found. Early detection of this enzymopathy regardless of sex and close surveillance of the affected newborns may be important in reducing the risk of severe hyperbilirubinemia. This emphasizes the necessity of neonatal screening on cord blood samples for G6PD deficiency.

White centered retinal hemorrhages in vitamin b(12) deficiency anemia.

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Zehetner, Claus; Bechrakis, Nikolaos E

2011-05-01

To report a case of severe vitamin B(12) deficiency anemia presenting with white centered retinal hemorrhages. Interventional case report. A 40-year-old man, general practitioner himself, presented with a 1-day history of diminished left visual acuity and a drop-shaped central scotoma. The corrected visual acuities were 20/20, OD and 20/100, OS. Ophthalmic examination revealed bilaterally pale tarsal conjunctiva, discretely icteric bulbar conjunctiva and disseminated white centered intraretinal hemorrhages with foveal involvement. OCT imaging through these lesions revealed a retinal thickening caused by a sub-ILM accumulation of hyperreflective and inhomogeneous deposits within the nerve fiber layer. Immediate laboratory work-up showed severe megaloblastic anemia caused by vitamin B(12) deficiency requiring erythrocyte transfusions. Most reports of white centered retinal hemorrhages have been described in patients with leukemic retinopathy and bacterial endocarditis. It is interesting that this case of vitamin B(12) deficiency anemia retinopathy has a clinically indistinguishable fundus appearance. This is probably due to the common pathology of capillary disruption and subsequent hemostatic fibrin plug formation. In megaloblastic anemia, direct anoxia results in endothelial dysfunction. The loss of impermeability allows extrusion of whole blood and subsequent diffusion from the disrupted site throughout and above the nerve fiber layer. Therefore the biomicroscopic pattern of white centered hemorrhages observed in anemic retinopathy is most likely due to the clot formation as the reparative sequence after capillary rupture.

White Centered Retinal Hemorrhages in Vitamin B12 Deficiency Anemia

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Claus Zehetner

2011-05-01

Full Text Available Background: To report a case of severe vitamin B12 deficiency anemia presenting with white centered retinal hemorrhages. Methods: Interventional case report. Results: A 40-year-old man, general practitioner himself, presented with a 1-day history of diminished left visual acuity and a drop-shaped central scotoma. The corrected visual acuities were 20/20, OD and 20/100, OS. Ophthalmic examination revealed bilaterally pale tarsal conjunctiva, discretely icteric bulbar conjunctiva and disseminated white centered intraretinal hemorrhages with foveal involvement. OCT imaging through these lesions revealed a retinal thickening caused by a sub-ILM accumulation of hyperreflective and inhomogeneous deposits within the nerve fiber layer. Immediate laboratory work-up showed severe megaloblastic anemia caused by vitamin B12 deficiency requiring erythrocyte transfusions. Discussion: Most reports of white centered retinal hemorrhages have been described in patients with leukemic retinopathy and bacterial endocarditis. It is interesting that this case of vitamin B12 deficiency anemia retinopathy has a clinically indistinguishable fundus appearance. This is probably due to the common pathology of capillary disruption and subsequent hemostatic fibrin plug formation. In megaloblastic anemia, direct anoxia results in endothelial dysfunction. The loss of impermeability allows extrusion of whole blood and subsequent diffusion from the disrupted site throughout and above the nerve fiber layer. Therefore the biomicroscopic pattern of white centered hemorrhages observed in anemic retinopathy is most likely due to the clot formation as the reparative sequence after capillary rupture.

Vitamin B12 deficiency presenting as an acute confusional state: A ...

African Journals Online (AJOL)

Results: We report a case of a 44 year old female patient referred to the haematology unit with vitamin B12 deficiency presenting as an acute confusional state or delirium. Total resolution of the psychiatric symptoms occurred following parenteral vitamin B12 replacement therapy. Conclusion: This case report highlights one ...

Is muscle glycogenolysis impaired in X-linked phosphorylase b kinase deficiency?

DEFF Research Database (Denmark)

Orngreen, M.C.; Schelhaas, H.J.; Jeppesen, T.D.

2008-01-01

OBJECTIVE: It is unclear to what extent muscle phosphorylase b kinase (PHK) deficiency is associated with exercise-related symptoms and impaired muscle metabolism, because 1) only four patients have been characterized at the molecular level, 2) reported symptoms have been nonspecific, and 3......) lactate responses to ischemic handgrip exercise have been normal. METHODS: We studied a 50-year-old man with X-linked PHK deficiency using ischemic forearm and cycle ergometry exercise tests to define the derangement of muscle metabolism. We compared our findings with those in patients with Mc...... in healthy subjects. Constant workload elicited a second wind in all patients with McArdle disease, but not in the patient with PHK deficiency. IV glucose administration appeared to improve exercise tolerance in the patient with PHK deficiency, but not to the same extent as in the patients with Mc...

Impaired liver regeneration is associated with reduced cyclin B1 in natural killer T cell-deficient mice.

Science.gov (United States)

Ben Ya'acov, Ami; Meir, Hadar; Zolotaryova, Lydia; Ilan, Yaron; Shteyer, Eyal

2017-03-23

It has been shown that the proportion of natural killer T cells is markedly elevated during liver regeneration and their activation under different conditions can modulate this process. As natural killer T cells and liver injury are central in liver regeneration, elucidating their role is important. The aim of the current study is to explore the role of natural killer T cells in impaired liver regeneration. Concanvalin A was injected 4 days before partial hepatectomy to natural killer T cells- deficient mice or to anti CD1d1-treated mice. Ki-67 and proliferating cell nuclear antigen were used to measure hepatocytes proliferation. Expression of hepatic cyclin B1 and proliferating cell nuclear antigen were evaluated by Western Blot and liver injury was assessed by ALT and histology. Natural killer T cells- deficient or mice injected with anti CD1d antibodies exhibited reduced liver regeneration. These mice were considerably resistant to ConA-induced liver injury. In the absence of NKT cells hepatic proliferating cell nuclear antigen and cyclin B1 decreased in mice injected with Concanvalin A before partial hepatectomy. This was accompanied with reduced serum interleukin-6 levels. Natural killer T cells play an important role in liver regeneration, which is associated with cyclin B1 and interleukin-6.

Vitamin B12 intake and status and cognitive function in elderly people.

Science.gov (United States)

Doets, Esmée L; van Wijngaarden, Janneke P; Szczecińska, Anna; Dullemeijer, Carla; Souverein, Olga W; Dhonukshe-Rutten, Rosalie A M; Cavelaars, Adrienne E J M; van 't Veer, Pieter; Brzozowska, Anna; de Groot, Lisette C P G M

2013-01-01

Current recommendations on vitamin B12 intake vary from 1.4 to 3.0 μg per day and are based on the amount needed for maintenance of hematologic status or on the amount needed to compensate obligatory losses. This systematic review evaluates whether the relation between vitamin B12 intake and cognitive function should be considered for underpinning vitamin B12 recommendations in the future. The authors summarized dose-response evidence from randomized controlled trials and prospective cohort studies on the relation of vitamin B12 intake and status with cognitive function in adults and elderly people. Two randomized controlled trials and 6 cohort studies showed no association or inconsistent associations between vitamin B12 intake and cognitive function. Random-effects meta-analysis showed that serum/plasma vitamin B12 (50 pmol/L) was not associated with risk of dementia (4 cohort studies), global cognition z scores (4 cohort studies), or memory z scores (4 cohort studies). Although dose-response evidence on sensitive markers of vitamin B12 status (methylmalonic acid and holotranscobalamin) was scarce, 4 of 5 cohort studies reported significant associations with risk of dementia, Alzheimer's disease, or global cognition. Current evidence on the relation between vitamin B12 intake or status and cognitive function is not sufficient for consideration in the development of vitamin B12 recommendations. Further studies should consider the selection of sensitive markers of vitamin B12 status. © The Author 2012. Published by Oxford University Press on behalf of the Johns Hopkins Bloomberg School of Public Health. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Pathophysiology of B-cell intrinsic immunoglobulin class switch recombination deficiencies.

Science.gov (United States)

Durandy, Anne; Taubenheim, Nadine; Peron, Sophie; Fischer, Alain

2007-01-01

B-cell intrinsic immunoglobulin class switch recombination (Ig-CSR) deficiencies, previously termed hyper-IgM syndromes, are genetically determined conditions characterized by normal or elevated serum IgM levels and an absence or very low levels of IgG, IgA, and IgE. As a function of the molecular mechanism, the defective CSR is variably associated to a defect in the generation of somatic hypermutations (SHMs) in the Ig variable region. The study of Ig-CSR deficiencies contributed to a better delineation of the mechanisms underlying CSR and SHM, the major events of antigen-triggered antibody maturation. Four Ig-CSR deficiency phenotypes have been so far reported: the description of the activation-induced cytidine deaminase (AID) deficiency (Ig-CSR deficiency 1), caused by recessive mutations of AICDA gene, characterized by a defect in CSR and SHM, clearly established the role of AID in the induction of the Ig gene rearrangements underlying CSR and SHM. A CSR-specific function of AID has, however, been detected by the observation of a selective CSR defect caused by mutations affecting the C-terminus of AID. Ig-CSR deficiency 2 is the consequence of uracil-N-glycosylase (UNG) deficiency. Because UNG, a molecule of the base excision repair machinery, removes uracils from DNA and AID deaminates cytosines into uracils, that observation indicates that the AID-UNG pathway directly targets DNA of switch regions from the Ig heavy-chain locus to induce the CSR process. Ig-CSR deficiencies 3 and 4 are characterized by a selective CSR defect resulting from blocks at distinct steps of CSR. A further understanding of the CSR machinery is expected from their molecular definition.

Atividade da 6-fosfogliconato desidrogenase em deficientes de glicose-6-fosfato desidrogenase Activity of 6-phosphogluconate dehydrogenase in glucose-6-phosphate dehydrogenase deficiency

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Daniela B. Nicolielo

2006-06-01

Full Text Available As enzimas G6PD e 6PGD são responsáveis pela geração do aporte de NADPH, necessário para a detoxificação dos agentes oxidantes produzidos pelo estresse oxidativo metabólico nos eritrócitos. Devido à alta prevalência de deficiência de G6PD na população mundial, principalmente de origem negróide africana, muitos estudos têm sido realizados na tentativa de conhecer melhor a atuação destas enzimas. O objetivo deste estudo foi avaliar a atividade enzimática da 6PGD, nos deficientes de G6PD, para verificar a existência de aumento da atividade desta enzima, correlacionando com um possível aumento do número de reticulócitos ou presença de alterações da série vermelha. A pesquisa em 2.657 indivíduos do sexo masculino resultou em 97 deficientes de G6PD, determinando uma prevalência de 3,65% para a região de Bauru (SP, com atividade enzimática média de G6PD de 1,74 UI.g Hb-1. min-1 a 37ºC, 14,4% da atividade da G6PD normal. A atividade enzimática média da 6PGD foi de 9,5 UI.g Hb-1. min-1 a 37ºC, estando aumentada em 47,4% dos deficientes de G6PD. Os resultados não confirmaram que a hipótese do aumento da atividade enzimática da 6PGD, em deficientes de G6PD, seja decorrente da presença de um número aumentado de reticulócitos na corrente circulatória, faixa etária ou alterações eritrocitométricas que denotem anemia. O mais provável é que a hemólise autolimitada, imposta pelos processos oxidativos, preserve os eritrócitos mais jovens, que possuem atividade enzimática mais elevada, uma vez que naturalmente ocorre diminuição da atividade destas enzimas com o envelhecimento celular.The G6PD and 6PGD enzymes are responsible for the generation of NADPH supply necessary for the detoxification of the oxidant agents produced during the oxidative metabolic stress on erythrocytes. Due to the high prevalence of the deficiency of G6PD on world population, especially on Afro descents, many studies have been done trying

URINARY EXCRETION OF WATER-SOLUBLE VITAMINS (C, B1, B2, AND B6 IN HEALTHY CHILDREN OF PRESCHOOL AND SCHOOL AGE: A CROSS-SECTIONAL STUDY

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Svetlana G. Makarova

2018-01-01

Full Text Available Background. Children of preschool and school age are at risk of developing vitamin deficiency. Screening of the vitamin provision of children remains an urgent problem of pediatrics. Objective. Our aim was to determine the prevalence of low excretion of watersoluble vitamins among healthy preschool and school-age children.Methods. The study was conducted in March-April 2017. We determined the urinary excretion (fasting morning portion collected during 30–120 min after night-time urination of metabolites of vitamins C, B1, B2, and B6 in healthy children. Riboflavin (vitamin B2 metabolite was determined spectrophotometrically by titration with a riboflavin-binding apoprotein; 4-pyridoxyl acid (vitamin B6 metabolite and thiamine (vitamin B1 metabolite — by fluorescent method, ascorbic acid (vitamin C metabolite — by visual titration with Tillman’s reagent. The excretion considered to be low (equivalent to vitamin deficiency when thiamine excretion was < 7, 10, 11, and 12 μg/h and riboflavin < 6, 9, 10, and 13 μg/h in children aged 3–5, 6–8, 9–11, and above 12 years, respectively; 4-pyridoxylic acid — < 40, 60, and 70 μg/h in children aged 3–5, 6–8, and ≥ 9 years, ascorbic acid — < 0.2 and 0.4 mg/h in children aged 3–11 and ≥ 12 years, respectively.Results. Metabolites were excreted in 39 children (20 girls, 14 of them aged 4–6 years and 25 children aged 7–14 years. A low level of ascorbic acid excretion was found in 13 (33% children, of thiamine — in 24 (62%, of riboflavin — in 16 (41%, of 4-pyridoxyl acid — in 26 (67%. Low excretion of at least one vitamin metabolite was detected in 30 (77% children, of 3 or more metabolites simultaneously — in 15 (39%.Conclusion. A low level of urinary excretion of metabolites of at least one water-soluble vitamin (C, B1, B2, and B≥ occurs in most preschool and schoolage children.

Immunity to sporozoite-induced malaria infection in mice. I. The effect of immunization of T and B cell-deficient mice

International Nuclear Information System (INIS)

Chen, D.H.; Tigelaar, R.E.; Weinbaum, F.I.

1977-01-01

The cellular basis of immunity to sporozoites was investigated by examining the effect of immunization of T and B cell-deficient C57BL/6N x BALB/c AnN F 1 (BLCF 1 ) mice compared to immunocompetent controls. Immunization of T cell-deficient (ATX-BM-ATS) BLCF 1 mice with x-irradiated sporozoites did not result in the generation of protective immunity. The same immunization protocols protected all immunocompetent controls. In contrast, B cell-deficient (μ-suppressed) BLCF 1 mice were protected by immunization in the majority of cases. The absence of detectable serum circumsporozoite precipitins or sporozoite neutralizing activity in the μ-suppressed mice that resisted a sporozoite challenge suggests a minor role for these humoral factors in protection. These data demonstrate a preeminent role for T cells in the induction of protective immunity in BLCF 1 mice against a P. berghei sporozoite infection

Normal mitogen-induced suppression of the interleukin-6 (IL-6) response and its deficiency in systemic lupus erythematosus

International Nuclear Information System (INIS)

Warrington, R.J.; Rutherford, W.J.

1990-01-01

A low-frequency suppressor-cell population in normal peripheral blood inhibits the B-cell CESS response to IL-6, following pokeweed mitogen stimulation. The suppression of IL-6 responsiveness is radiation sensitive, directed against CESS targets and not mediated by inhibition of IL-6 production, and associated with nonspecific cytotoxic activity against CESS targets. The generation of these cytolytic cells is also radiation sensitive. A correlation was found between PWM-induced cytotoxicity against CESS and the suppression of IL-6-dependent IgG production. But cytotoxicity toward CESS targets is not responsible for this suppression because IL-2 induces equivalent or greater nonspecific cytotoxicity against CESS in the total absence of suppression of CESS-derived IgG production and suppression is also induced by mitogen-activated PBL separated from CESS targets by a cell-impermeable membrane. This suppression was not mediated by TNF alpha/beta or IFN-gamma. In systemic lupus erythematosus, suppression of IL-6-dependent IgG production is impaired in patients with active disease (29.2 +/- 13.7%) compared to patients with inactive disease (70 +/- 19.5%) or normal controls (82.8 +/- 9.2%). There is also a defect in mitogen-induced nonspecific cytotoxicity in active SLE (specific lysis 15.1 +/- 3.5%, compared to 34 +/- 4% in normals). Pokeweed mitogen-activated PBL can therefore normally induce suppression of B-cell IL-6 responses and this response is deficient in lupus

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3 Deficiency Associated With Autoinflammatory Complications

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Anoop Mistry

2017-11-01

Full Text Available G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c.130 C>T mutation, but who have clinical phenotypes that are typical for a systemic autoinflammatory syndrome. The index case presented with combination of unexplained fevers, severe mucosal ulcers, abdominal symptoms, and inflammatory arthritis. He eventually fully responded to anti-TNF therapy. In this study, we show that compared with healthy controls, neutrophils and monocytes from patients have reduced glycolytic reserve. Considering that healthy myeloid cells have been shown to switch their metabolic pathways to glycolysis in response to inflammatory cues, we studied what impact this might have on production of the inflammatory cytokines. We have demonstrated that patients’ monocytes, in response to lipopolysaccharide, show significantly increased production of IL-1β and IL-18, which is NLRP3 inflammasome dependent. Furthermore, additional whole blood assays have also shown an enhanced production of IL-6 and TNF from the patients’ cells. These cases provide further proof that autoinflammatory complications are also seen within the spectrum of primary immune deficiencies, and resulting from a wider dysregulation of the immune responses.

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications.

Science.gov (United States)

Mistry, Anoop; Scambler, Thomas; Parry, David; Wood, Mark; Barcenas-Morales, Gabriela; Carter, Clive; Doffinger, Rainer; Savic, Sinisa

2017-01-01

G6PC3 deficiency typically causes severe congenital neutropenia, associated with susceptibility to infections, cardiac and urogenital abnormalities. However, here we describe two boys of Pakistani origin who were found to have G6PC3 deficiency due to c.130 C>T mutation, but who have clinical phenotypes that are typical for a systemic autoinflammatory syndrome. The index case presented with combination of unexplained fevers, severe mucosal ulcers, abdominal symptoms, and inflammatory arthritis. He eventually fully responded to anti-TNF therapy. In this study, we show that compared with healthy controls, neutrophils and monocytes from patients have reduced glycolytic reserve. Considering that healthy myeloid cells have been shown to switch their metabolic pathways to glycolysis in response to inflammatory cues, we studied what impact this might have on production of the inflammatory cytokines. We have demonstrated that patients' monocytes, in response to lipopolysaccharide, show significantly increased production of IL-1β and IL-18, which is NLRP3 inflammasome dependent. Furthermore, additional whole blood assays have also shown an enhanced production of IL-6 and TNF from the patients' cells. These cases provide further proof that autoinflammatory complications are also seen within the spectrum of primary immune deficiencies, and resulting from a wider dysregulation of the immune responses.

Food fortification improves the intake of all fortified nutrients, but fails to meet the estimated dietary requirements for vitamins A and B6, riboflavin and zinc, in lactating South African women.

Science.gov (United States)

Papathakis, Peggy C; Pearson, Kerry E

2012-10-01

To investigate the impact of fortification by comparing food records and selected biochemical indicators of nutritional status pre- and post-fortification. Mean intake from 24 h recalls (n 142) was compared with the Estimated Average Requirement (EAR) to determine the proportion with inadequate intake. In a subsample (n 34), diet and serum retinol, folate, ferritin and Zn were compared pre- and post-fortification for fortified nutrients vitamin A, thiamin, riboflavin, niacin, folic acid, Fe and Zn. South Africa. Breast-feeding women (ninety-four HIV-infected, forty eight HIV-uninfected) measured at ~6, 14, 24 weeks, and 9 and 12 months postpartum. Pre-fortification, >80 % of women did not meet the EAR for vitamins A, C, D, thiamin, riboflavin, niacin, B6, B12 and folate and minerals Zn, iodine and Ca. Dietary intake post-fortification increased for all fortified nutrients. In post-fortification food records, >70 % did not meet the EAR for Zn and vitamins A, riboflavin and B6. Serum folate and Zn increased significantly post-fortification (P 93 % were retinol replete. There was no change in Fe deficiency (16.7 % pre v. 19.4 % post; P = 0.728). Micronutrient intake improved with fortification, but >70 % of lactating women did not meet the EAR for Zn, vitamins A, riboflavin and B6. Although 100 % exceeded the EAR for Fe after fortification, Fe status did not improve.

Neutron diffraction studies on GdB6 and TbB6 powders

International Nuclear Information System (INIS)

Luca, S.E.; Amara, M.; Galera, R.M.; Givord, F.; Granovsky, S.; Isnard, O.; Beneu, B.

2004-01-01

We report here the first powder neutron diffraction study of GdB 6 and TbB 6 . GdB 6 and TbB 6 order antiferromagnetically at 15 and 21 K, respectively. In both compounds the transition at T N is of the first order. Moreover GdB 6 presents a second spontaneous magnetic transition at T * =8 K. The present study shows that, in both compounds, the magnetic propagation vectors belong to the star and that the direction of the magnetic moment is perpendicular to the ((1)/(2)) component of the wave-vector in GdB 6 , while in TbB 6 the moment is parallel to it. The deduced low-temperature values of the magnetic moments agree with those of the respective rare-earth trivalent ions

Vitamin B12 deficiency is associated with geographical latitude and solar radiation in the older population.

Science.gov (United States)

Cabrera, Sebastián; Benavente, David; Alvo, Miriam; de Pablo, Paola; Ferro, Charles J

2014-11-01

Vitamin B12 and folic acid deficiency are common in the older and are associated with several conditions including anaemia, cardiovascular disease, cognitive impairment and cancer. Evidence from in vitro studies suggests that solar radiation can degrade both vitamins in the skin. Chile is the longest country in the world running perfectly North-South making it an ideal place to study potential associations of latitude and solar radiation on vitamin B12 and folic acid deficiency. The objective was to examine the association between vitamin B12 and folic acid deficiencies and latitude. Plasma samples were collected from Chileans aged 65+ years (n=1013) living across the whole country and assayed for vitamin B12 and folic acid concentrations as part of the Chilean Health Survey 2009-2010, which is a national representative sample study. Overall, the prevalence of vitamin B12 deficiency was 11.3%, with the prevalence in the North of the country being significantly greater than in the Central and South zones (19.1%,10.5%, and 5.7%, respectively; Psolar radiation (OR 1.203 [95% confidence intervals 1.119-1.294], Psolar radiation. Although degradation by solar radiation might explain this observation, further work is required to establish the potential mechanisms. In countries that routinely fortify food with folic acid, efforts to identify vitamin B12 deficiency might be more cost-efficiently targeted in areas closest to the Equator. Copyright © 2014 Elsevier B.V. All rights reserved.

The Influence of Malnutrition and Micronutrient Status on Anemic Risk in Children under 3 Years Old in Poor Areas in China

Science.gov (United States)

Wang, Jie; Wang, Hui; Chang, Suying; Zhao, Liyun; Fu, Ping; Yu, Wentao; Man, Qingqing; Scherpbier, Robert; Pan, Lili; Duan, Yifan; Yin, Shi-an

2015-01-01

Background Malnutrition and anemia affect large numbers of young children living in poor areas of China. Multi-micronutrient deficiencies may be related to the prevalence of anemia in different populations, and identifying the risk factors that render children susceptible to anemia is the first step in combating anemia effectively. Methods In this cross-sectional study, a total of 1370 children under 3 years old were selected based on probability proportional to size sampling principles from poor counties of China. Basic characteristics data were collected by questionnaire; then anthropometrics and hemoglobin were measured in the field and anemia prevalence evaluated. Venous blood was drawn from children aged 12–35 months (N = 553) to evaluate micronutrient status. Logistic regression was used to identify the risk factors for children’s anemia. Results Among children aged 0–35 months, the prevalence of stunting, low body weight and wasting was 17.5%, 8.6% and 5.1%, respectively, and 25.6% of the children were affected by anemia, with more anemic infants and younger children than older children (P children aged 12–35 months affected by iron deficiency, vitamin D deficiency, folic acid deficiency and vitamin B12 deficiency, respectively. For children aged 0–11 months who were breastfed, the mothers’ anemic status was the only factor associated with the child’s anemia (OR = 2.6; 95% CI: 1.2–5.4, P children aged 12–35 months, multivariate logistic regression indicated that anemia was significantly associated with iron and vitamin B12 deficiency (OR = 5.3; 95% CI: 1.9–14.5, P anemia was higher in children under 2 years old and requires urgent intervention. An effective intervention strategy should include iron and vitamin B12 supplements, improving dietary diversity and controlling breastfeeding mothers' anemia. PMID:26488490

Screening for glucose-6-phosphate dehydrogenase deficiency in neonates: a comparison between cord and peripheral blood samples.

Science.gov (United States)

AlSaif, Saif; Ponferrada, Ma Bella; AlKhairy, Khalid; AlTawil, Khalil; Sallam, Adel; Ahmed, Ibrahim; Khawaji, Mohammed; AlHathlol, Khalid; Baylon, Beverly; AlSuhaibani, Ahmed; AlBalwi, Mohammed

2017-07-11

The use of cord blood in the neonatal screening for glucose-6-phosphate dehydrogenase (G6PD) deficiency is being done with increasing frequency but has yet to be adequately evaluated against the use of peripheral blood sample which is usually employed for confirmation. We sought to determine the incidence and gender distribution of G6PD deficiency, and compare the results of cord against peripheral blood in identifying G6PD DEFICIENCY neonates using quantitative enzyme activity assay. We carried out a retrospective and cross-sectional study employing review of primary hospital data of neonates born in a tertiary care center from January to December 2008. Among the 8139 neonates with cord blood G6PD assays, an overall incidence of 2% for G6PD deficiency was computed. 79% of these were males and 21% were females with significantly more deficient males (p blood samples (n = 1253) showed a significantly higher mean G6PD value for peripheral than cord blood (15.12 ± 4.52 U/g and 14.52 ± 4.43 U/g, respectively, p = 0.0008). However, the proportion of G6PD deficient neonates did not significantly differ in the two groups (p = 0.79). Sensitivity of cord blood in screening for G6PD deficiency, using peripheral G6PD assay as a gold standard was 98.6% with a NPV of 99.5%. There was no difference between cord and peripheral blood samples in discriminating between G6PD deficient and non-deficient neonates. A significantly higher mean peripheral G6PD assay reinforces the use of cord blood for neonatal screening since it has substantially low false negative results.

Experimental Status of B Physics

International Nuclear Information System (INIS)

Stone, Sheldon

2006-01-01

A short summary is given of the current status of B physics. Reasons for physics beyond the Standard Model are discussed. Constraints on New Physics are given using measurements of B mixing, BS mixing, and CP violation, along with |Vub|. Future goals, and upcoming new experiments are also mentioned

Glucose-6-phosphate dehydrogenase deficiency: an unusual cause of acute jaundice after paracetamol overdose.

Science.gov (United States)

Phillpotts, Simon; Tash, Elliot; Sen, Sambit

2014-11-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the commonest human enzyme defect causing haemolytic anaemia after exposure to specific triggers. Paracetamol-induced haemolysis in G6PD deficiency is a rare complication and mostly reported in children. We report the first case (to the best of our knowledge) of acute jaundice without overt clinical features of a haemolytic crisis, in an otherwise healthy adult female following paracetamol overdose, due to previously undiagnosed G6PD deficiency. It is important that clinicians consider this condition when a patient presents following a paracetamol overdose with significant and disproportionate jaundice, without transaminitis or coagulopathy. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Severe acute haemolytic anaemia associated with severe methaemoglobinaemia in a G6PD-deficient man.

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Rehman, Abdul; Shehadeh, Mohanad; Khirfan, Diala; Jones, Akhnuwhkh

2018-03-28

Methaemoglobin is a form of haemoglobin in which the ferrous (Fe 2+ ) ion contained in the iron-porphyrin complex of haem is oxidised to its ferric (Fe 3+ ) state. Methaemoglobinaemia, the presence of methaemoglobin in the blood, is most commonly treated with methylene blue. However, methylene blue cannot be used in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency as it is ineffective in such patients and it can worsen G6PD deficiency haemolysis. We report the case of a 30-year-old man who presented with clinical features of G6PD deficiency-associated haemolysis and was found to have severe methaemoglobinaemia (35%). He was administered blood transfusions and intravenous ascorbic acid. His methaemoglobinaemia resolved within 24 hours. This case demonstrates the successful management of a patient with severe methaemoglobinaemia in the setting of G6PD deficiency haemolysis. Emergency physicians should be aware of the possible co-occurrence of severe methaemoglobinaemia in a patient with G6PD deficiency haemolysis. © BMJ Publishing Group Ltd (unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Icterícia neonatal e deficiência de glicose-6-fosfato desidrogenase Neonatal jaundice and glucose-6-phosphate dehydrogenase

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Amauri Antiquera Leite

2010-01-01

Full Text Available A deficiência de glicose-6-fosfato desidrogenase em neonatos pode ser a responsável pela icterícia neonatal. Este comentário científico é decorrente do relato sobre o tema publicado neste fascículo e que preocupa diversos autores de outros países em relação às complicações em neonatos de hiperbilirrubinemia, existindo inclusive proposições de alguns autores em incluir o teste para identificar a deficiência de glicose-6-fosfato desidrogenase nos recém-nascidos.Glucose-6-phosphate dehydrogenase in newborn babies may be responsible for neonatal jaundice. There is a concern of many authors from other countries in respect to complications in neonates with hyperbilirubinemia; some authors even propose screening for glucose-6-phosphate dehydrogenase deficiency in newborn babies. A scientific report on this subject is published in this issue.

Determinants of vitamin a deficiency in children between 6 months and 2 years of age in Guinea-Bissau

DEFF Research Database (Denmark)

Danneskiold-Samsøe, Niels; Fisker, Ane Bærent; Jørgensen, Mathias Jul

2013-01-01

The World Health Organization (WHO) classifies Guinea-Bissau as having severe vitamin A deficiency (VAD). To date, no national survey has been conducted. We assessed vitamin A status among children in rural Guinea-Bissau to assess status and identify risk factors for VAD....

Prevalence of glucose-6-phosphate dehydrogenase (G6PD) deficiency among malaria patients in Upper Myanmar.

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Lee, Jinyoung; Kim, Tae Im; Kang, Jung-Mi; Jun, Hojong; Lê, Hương Giang; Thái, Thị Lam; Sohn, Woon-Mok; Myint, Moe Kyaw; Lin, Khin; Kim, Tong-Soo; Na, Byoung-Kuk

2018-03-16

Glucose-6-phosphate dehydrogenase (G6PD; EC 1.1.1.49) deficiency is one of the most common X-linked recessive hereditary disorders in the world. Primaquine (PQ) has been used for radical cure of P. vivax to prevent relapse. Recently, it is also used to reduce P. falciparum gametocyte carriage to block transmission. However, PQ metabolites oxidize hemoglobin and generate excessive reactive oxygen species which can trigger acute hemolytic anemia in malaria patients with inherited G6PD deficiency. A total of 252 blood samples collected from malaria patients in Myanmar were used in this study. G6PD variant was analysed by a multiplex allele specific PCR kit, DiaPlexC™ G6PD Genotyping Kit [Asian type]. The accuracy of the multiplex allele specific PCR was confirmed by sequencing analysis. Prevalence and distribution of G6PD variants in 252 malaria patients in Myanmar were analysed. Six different types of G6PD allelic variants were identified in 50 (7 females and 43 males) malaria patients. The predominant variant was Mahidol (68%, 34/50), of which 91.2% (31/34) and 8.8% (3/34) were males and females, respectively. Other G6PD variants including Kaiping (18%, 9/50), Viangchan (6%, 3/50), Mediterranean (4%, 2/50), Union (2%, 1/50) and Canton (2%, 1/50) were also observed. Results of this study suggest that more concern for proper and safe use of PQ as a radical cure of malaria in Myanmar is needed by combining G6PD deficiency test before PQ prescription. Establishment of a follow-up system to monitor potential PQ toxicity in malaria patients who are given PQ is also required.

Vitamin B12 Deficiency and the Role of Gender: A Cross-Sectional Study of a Large Cohort.

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Margalit, Ili; Cohen, Eytan; Goldberg, Elad; Krause, Ilan

2018-01-01

Vitamin B12 deficiency is associated with hematological, neurological, and cardiovascular consequences. Epidemiologic data on these related illnesses indicate gender differences. A cross-sectional study was designed to examine gender differences in vitamin B12 deficiency among a healthy population. Data from healthy individuals aged 18-65, who were provided with a routine medical evaluation during 2000-2014, were retrieved from the medical charts. Individuals with background illnesses and those who had used medications or nutritional supplements were excluded. Vitamin B12 deficiency was defined by 2 cutoff values (206 and 140 pmol/L). The multivariate analysis was adjusted for age, body mass index, estimated glomerular filtration rate, hyperhomocysteinemia, folate deficiency, albumin, and transferrin saturation. Sensitivity analyses were implemented by excluding individuals with anemia, hyperhomocysteinemia, or folate deficiency and by age stratification. In all, 7,963 individuals met the inclusion criteria. Serum vitamin B12 mean levels were 312.36 and 284.31 pmol/L for women and men respectively (p variations are therefore hypothesized to play a role. © 2018 S. Karger AG, Basel.

Seizure is a rare presentation for acute hemolysis due to G6PD deficiency. We report a previously healthy boy who presented initially with seizure and cyanosis and subsequently acute hemolysis, due to glucose-6-phosphate dehydrogenase deficiency (G6PD) an

OpenAIRE

Afshin FAYYAZI; Ali KHAJEH; Hosein ESFAHANI

2012-01-01

Seizure is a rare presentation for acute hemolysis due to G6PD deficiency. We report a previously healthy boy who presented initially with seizure and cyanosis and subsequently acute hemolysis, due to glucose-6-phosphate dehydrogenase deficiency (G6PD) and probably secondary methemoglobinemia, following the ingestion of fava beans.

Serum homocysteine, folate, vitamin B12 and total antioxidant status in vegetarian children.

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Ambroszkiewicz, J; Klemarczyk, W; Chełchowska, M; Gajewska, J; Laskowska-Klita, T

2006-01-01

The results of several studies point to the positive role of vegetarian diets in reducing the risk of diabetes, some cancers and cardiovascular diseases. However, exclusion of animal products in vegetarian diets may affect the cobalamin status and cause an elevation of the plasma homocysteine level. The aim of this study was to assess the effect of vegetarian diets on serum concentrations of homocysteine, folate, vitamin B12 and total antioxidant status (TAS) in children. The study included 32 vegetarians (including 5 vegans), age 2-10 years. Dietary constituents were analyzed using a local nutritional programme. Serum homocysteine, folate and vitamin B12 were determined with fluorescence and chemiluminescence immunoassays. The concentration of TAS was measured by a colorimetric method. Average daily energy intake and the percentage of energy from protein, fat and carbohydrates in the diets of the studied children were just above or similar to the recommended amounts. It could be shown that vegetarian diets contain high concentrations of folate. In vegan diets it even exceeds the recommended dietary allowance. Mean daily intake of vitamin B12 in the studied diets was adequate but in vegans was below the recommended range. The serum concentrations of homocysteine, folate, vitamin B12 and TAS in vegetarian children remained within the physiological range. The presented data indicate that vegetarian children, contrary to adults, have enough vitamin B12 in their diet (excluding vegans) and normal serum concentrations of homocysteine, folate and vitamin B12. Therefore, in order to prevent deficiencies in the future, close monitoring of vegetarian children (especially on a vegan diet) is important to make sure that they receive adequate quantities of nutrients needed for healthy growth.

Reduced glutathione and glutathione disulfide in the blood of glucose-6-phosphate dehydrogenase-deficient newborns.

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Gong, Zhen-Hua; Tian, Guo-Li; Huang, Qi-Wei; Wang, Yan-Min; Xu, Hong-Ping

2017-07-20

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) using tandem mass spectrometry (MS/MS) for detecting G6PD deficiency. The concentration of GSH and the GSH/GSSG ratio in newborn dry-blood-spot (DBS) screening and in blood plus sodium citrate for test confirmation were examined by MS/MS using labeled glycine as an internal standard. G6PD-deficient newborns had a lower GSH content (242.9 ± 15.9 μmol/L)and GSH/GSSG ratio (14.9 ± 7.2) than neonatal controls (370.0 ± 53.2 μmol/L and 46.7 ± 19.6, respectively). Although the results showed a significance of P blood measured using MS/MS on the first day of sample preparation are consistent with G6PD activity and are helpful for diagnosing G6PD deficiency.

Pregnant women of South Asian ethnicity in Canada have substantially lower vitamin B12 status compared with pregnant women of European ethnicity.

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Schroder, Theresa H; Sinclair, Graham; Mattman, Andre; Jung, Benjamin; Barr, Susan I; Vallance, Hilary D; Lamers, Yvonne

2017-09-01

Maternal vitamin B12 (B12) status has been inversely associated with adverse pregnancy outcomes and positively with fetal growth and infant development. South Asians, Canada's largest ethnic minority, are prone to B12 deficiency. Yet, data are lacking on B12 status in South Asian pregnant women in North America. We sought to determine B12 status, using multiple biomarkers, in 1st and 2nd trimester pregnant women of South Asian and, for comparison, European ethnicity living in Vancouver, Canada. In this retrospective cohort study, total B12, holotranscobalamin (holoTC), methylmalonic acid (MMA), and total homocysteine concentrations were quantified in two routinely collected (mean gestational week: 11·5 (range 8·3-13·9) and 16·5 (range 14·9-20·9)), banked serum samples of 748 healthy pregnant South Asian (n 371) and European (n 377) women. South Asian pregnant women had significantly lower B12 status than European pregnant women at both time points, as indicated by lower serum total B12 and holoTC concentrations, and higher MMA concentrations (all P≤0·001). The largest difference, which was substantial (Cohen's d≥0·5), was observed in mean serum total B12 concentrations (1st trimester: 189 (95 % CI 180, 199) v. 246 (95 % CI 236, 257) pmol/l; 2nd trimester: 176 (95 % CI 168, 185) v. 226 (95 % CI 216, 236) pmol/l). Further, South Asian ethnicity was a significant negative predictor of B12 status during pregnancy. South Asian women living in Vancouver have substantially lower B12 status during early pregnancy. Future research identifying predictors and health consequences of this observed difference is needed to allow for targeted interventions.

Ultrasonographic evaluation to diagnose hepatic lipidosis in Egyptian Zaraibi goats with vitamin B12 deficiency

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Sabry A. El-Khodery

2011-01-01

Full Text Available As little is known about the ultrasonographic features of hepatic lipidosis (white liver disease in goats, this study was undertaken to evaluate the use of ultrasound for the diagnosis of hepatic lipidosis associated with vitamin B12 (cyanocobalamin deficiency in Egyptian Zaraibi goats. A total of 38 goats (28 with weight loss, diarrhoea and anaemia and 10 clinically healthy were studied. Twenty-one goats were demonstrated to have cobalt and cyanocobalamin deficiency (0.33 ± 0.12 μmol/l and 0.17 ± 0.10 μg/l, respectively. Goats were examined with a real-time ultrasound system using a 5-MHz convex transducer. Ultrasound-guided liver biopsies and blood samples were obtained from each animal at examination. Based on the histopathological findings, diseased goats were classified as having mild (n = 6, moderate (n = 6 or severe lipidosis (n = 9. Ultrasonographic-hepatic changes were recorded in 19 (90.4% out of 21 goats. Severe lipidosis showed diffuse hyper-echogenicity of hepatic parenchyma. However, focal hyper-echoic lesions with various shapes, sizes and positions were visualized in mild and moderate lipidosis. Liver size increased significantly (P < 0.05 in severely affected goats compared with the controls. Histopathologically, macrovacuolations, congestion of hepatic sinusoids and infiltration of the portal area with inflammatory cells and connective tissues were evident in moderate and severely affected cases. There were varying degrees of anaemia, hypoglycemia and hypoproteinemia with significant increases (P < 0.05 of aspartate aminotransferase (AST and alkaline phosphatase (ALP in diseased animals compared with the controls. In conclusion, ultrasound may be a useful diagnostic tool in goats with suspected hepatic lipidosis associated with vitamin B12 deficiency.

The SuperB Project: Status and the Physics Reach

International Nuclear Information System (INIS)

Neri, Nicola

2012-01-01

The SuperB experiment is a next generation Super Flavour Factory expected to accumulate 75 ab −1 of data at the Υ(4S) in five years of nominal running, and will be built at the recently established Cabibbo Laboratory on the outskirts of Rome. In addition to running data at the Υ(4S), SuperB will be able to accumulate data from the ψ(3770) up to the Υ(6S). A polarized electron beam enables unique physics opportunities at SuperB. The large samples of B, D and τ decays that will be recorded at SuperB can be used to provide both stringent constraints on new physics scenarios, and over-constraints on the Standard Model. We present the status of the project as well as the physics potential of SuperB.

Holo-transcobalamin is an indicator of vitamin B-12 absorption in healthy adults with adequate vitamin B-12 status

DEFF Research Database (Denmark)

von Castel-Roberts, Kristina M; Mørkbak, Anne Louise; Nexo, Ebba

2007-01-01

BACKGROUND: It has been hypothesized that the response of holo-transcobalamin (holo-TC) to oral vitamin B-12 may be used to assess absorption. To develop a reliable clinical absorption test that uses holo-TC, it is necessary to determine the optimal timeline for vitamin B-12 administration...... and postdose assessment. OBJECTIVE: The objective of this study was to assess the magnitude and patterns of change in the postabsorption response of holo-TC to oral vitamin B-12. DESIGN: Adult (18-49 y) male and female participants (n = 21) with normal vitamin B-12 status were given three 9-mug doses...... of vitamin B-12 at 6-h intervals beginning early morning (baseline) on day 1. Blood was drawn at 17 timed intervals over the course of 3 d for the analysis of holo-TC and other indicators of vitamin B-12 status. RESULTS: Mean holo-TC increased significantly (P

Reversible Vitamin B12 Deficiency Presenting with Acute Dementia, Paraparesis, and Normal Hemoglobin

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Hani Almoallim

2016-01-01

Full Text Available Vitamin B12 is essential for neurological function and its deficiency is associated with many neuropsychiatric disorders. We report the case of a previously healthy 53-year-old male patient presenting with delirium and multiple neurological findings. Complete blood analysis indicated megaloblastic anemia. All infectious causes were excluded owing to negative cultures (blood and urine. Tests for human immunodeficiency virus, syphilis, and toxoplasma were also negative. Metabolic workup showed severe vitamin B12 deficiency, decreased reticulocyte count, and increased direct bilirubin and lactate dehydrogenase. Intramuscular injection of cobalamin was started, and the patient showed significant improvement.

Prevalence of anemia, iron deficiency, thalassemia and glucose-6-phosphate dehydrogenase deficiency among hill-tribe school children in Omkoi District, Chiang Mai Province, Thailand.

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Yanola, Jintana; Kongpan, Chatpat; Pornprasert, Sakorn

2014-07-01

The prevalaence of anemia, iron deficiency, thalassemia and glucose-6-phosphate dehydrogenase (G-6-PD) deficiency were examined among 265 hill-tribe school children, 8-14 years of age, from Omkoi District, Chiang Mai Province, Thailand. Anemia was observed in 20 school children, of whom 3 had iron deficiency anemia. The prevalence of G-6-PD deficiency and β-thalassemia trait [codon 17 (A>T), IVSI-nt1 (G>T) and codons 71/72 (+A) mutations] was 4% and 8%, respectively. There was one Hb E trait, and no α-thalassemia-1 SEA or Thai type deletion. Furthermore, anemia was found to be associated with β-thalassemia trait in 11 children. These data can be useful for providing appropriate prevention and control of anemia in this region of Thailand.

Association between vitamin D status and asymmetric dimethylarginine (ADMA) concentration in the Korean elderly population.

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Choi, Hye Rin; Lee, Seung Won; Yeom, Hyungseon; Jeon, Da-Hye; Kim, Hyeon Chang; Youm, Yoosik

2017-08-01

Vitamin D deficiency has been reported to be associated with the risk of cardiovascular disease. We investigated the relationship between vitamin D status and asymmetric dimethylarginine (ADMA) concentration, a marker of endothelial dysfunction, in the Korean elderly population. A cross-sectional study was conducted on 269 men and 382 women (mean age, 71.6 years) enrolled in the Korean Social Life, Health, and Aging Project (KSHAP), a population-based longitudinal study of health determinants in elderly Koreans. We stratified patients by vitamin D status into three groups according to serum 25-hydroxyvitamin D [25(OH)D] level: sufficient (≥30ng/mL, n=25), insufficient (10-D status and ADMA concentration was analyzed by multiple linear regression models. The mean ADMA concentration was significantly higher in the insufficient 25(OH)D group (0.665μmol/L, p=0.001) and the deficient 25(OH)D group (0.734μmol/L, pD group (0.589μmol/L). Even after adjusting for sex, age, body mass index, blood pressure, diabetes mellitus, total and HDL cholesterol, estimated glomerular filtration rate (eGFR), smoking status, and drinking status, ADMA concentrations were higher in the insufficient group (β=0.0742μmol/L, p=0.001) and the deficient group (β=0.1417μmol/L, pD deficiency was associated with higher ADMA levels in both women (pD deficiency was associated with higher ADMA levels in women (pD level may be associated with endothelial dysfunction in elderly Korean people. Copyright © 2017 Elsevier B.V. All rights reserved.

Anemia, Iron Deficiency and Iodine Deficiency among Nepalese School Children.

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Khatiwada, Saroj; Lamsal, Madhab; Gelal, Basanta; Gautam, Sharad; Nepal, Ashwini Kumar; Brodie, David; Baral, Nirmal

2016-07-01

To assess iodine and iron nutritional status among Nepalese school children. A cross-sectional, community based study was conducted in the two districts, Ilam (hilly region) and Udayapur (plain region) of eastern Nepal. A total of 759 school children aged 6-13 y from different schools within the study areas were randomly enrolled. A total of 759 urine samples and 316 blood samples were collected. Blood hemoglobin level, serum iron, total iron binding capacity and urinary iodine concentration was measured. Percentage of transferrin saturation was calculated using serum iron and total iron binding capacity values. The mean level of hemoglobin, serum iron, total iron binding capacity, transferrin saturation and median urinary iodine excretion were 12.29 ± 1.85 g/dl, 70.45 ± 34.46 μg/dl, 386.48 ± 62.48 μg/dl, 19.94 ± 12.07 % and 274.67 μg/L respectively. Anemia, iron deficiency and iodine deficiency (urinary iodine excretion iron deficient children. Iron deficiency and anemia are common in Nepalese children, whereas, iodine nutrition is more than adequate. Low urinary iodine excretion was common in iron deficiency and anemia.

[Current status of vitamin A deficiency in preschool children in Dongguan, China and the effect of vitamin A on serum ferritin and red blood cell parameters].

Science.gov (United States)

Zhang, Zhen-Hong; Ni, Ming; Hu, Yuan

2018-03-01

To investigate the current status of vitamin A deficiency in preschool children in Dongguan, China, as well as the effect of vitamin A on serum ferritin, red blood cell, and reticulocyte parameters. Cluster sampling was performed from April 2015 to December 2016 to select 2 085 preschool children (3-6 years old) without any disease in Dongguan. Routine blood test, reticulocyte count, serum ferritin measurement, hemoglobin electrophoresis, and vitamin A measurement were performed for all children. The associations of age and sex with vitamin A and serum ferritin concentrations were analyzed. The effect of vitamin A concentration on serum ferritin, red blood cell, and reticulocyte parameters and the effect of reduced iron storage caused by vitamin A deficiency on red blood cell parameters were evaluated. Of the 2 085 children, 140 (6.71%) had reduced iron storage, and 678 (32.52%) had vitamin A deficiency. Among the 678 children with vitamin A deficiency, 647 (95.4%) had subclinical deficiency and 31 (4.6%) had clinical deficiency. There was no significant difference in vitamin A concentration between boys and girls, however girls had a significantly higher serum ferritin concentration than boys (P<0.05). The clinical vitamin A deficiency group had a significantly higher serum ferritin concentration than the subclinical vitamin A deficiency group and the normal group (P<0.05). In cases of vitamin A deficiency, the reduced iron storage group had significant reductions in mean corpuscular volume and mean corpuscular hemoglobin than the normal iron storage group (P<0.05). Compared with the normal vitamin A group, the vitamin A deficiency group had significantly lower hemoglobin concentration, mean corpuscular hemoglobin, red blood cell count, hematocrit, absolute reticulocyte count, reticulocyte percentage, and reticulocyte hemoglobin content, as well as a significantly higher mean corpuscular volume (P<0.05). Vitamin A deficiency is prevalent in preschool children

Vitamin A deficiency among children in a periurban South African settlement.

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Coutsoudis, A; Mametja, D; Jinabhai, C C; Coovadia, H M

1993-06-01

Preschool children (aged 3-6 y) who were living in an informal settlement within metropolitan Durban, South Africa, were assessed for vitamin A status. The serum retinol concentration of 169 children tested was 0.73 +/- 0.26 mumol/L (mean +/- SD). Nine children (5%) had vitamin A deficiency (poor vitamin A status as defined by two abnormal conjunctival specimens. The CIC test was a feasible and reproducible method; however, it correlated poorly with the traditionally accepted serum retinol threshold of deficiency in this population where overt vitamin A deficiency is not prevalent. This survey demonstrated that regardless of the measurement tool, there is a prevalence of subclinical vitamin A deficiency in this typical periurban informal settlement and accordingly we suggest that these children should be targeted for vitamin A-intervention strategies.

X-Linked G6PD Deficiency Protects Hemizygous Males but Not Heterozygous Females against Severe Malaria

OpenAIRE

Guindo, Aldiouma; Fairhurst, Rick M; Doumbo, Ogobara K; Wellems, Thomas E; Diallo, Dapa A

2007-01-01

Editors' Summary Background. “Favism” is a condition that results from a deficiency in an enzyme called glucose-6-phosphate dehydrogenase (G6PD), and this disorder is thought to be the commonest enzyme-deficiency disease worldwide. The disease is named favism after the Italian word for broad beans (fava), which cause a classic reaction when eaten by people with G6PD deficiency. The G6PD enzyme is particularly important in red blood cells, where it protects against damage that can be caused by...

Present Status of Inclusive Rare $B$ Decays

CERN Document Server

Hurth, Tobias

2003-01-01

We give a status report on inclusive rare B decays, highlighting recent developments and open problems. We focus on the decay modes $B \\to X_{s,d} \\gamma$, $ B \\to X_s \\ell^+\\ell^-$ and $B \\to X_s \

Sensory Neuronopathy Revealing Severe Vitamin B12 Deficiency in a Patient with Anorexia Nervosa: An Often-Forgotten Reversible Cause

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Jérôme Franques

2017-03-01

Full Text Available Vitamin B12 (B12 deficiency is known to be associated with various neurological manifestations. Although central manifestations such as dementia or subacute combined degeneration are the most classic, neurological manifestations also include sensory neuropathies. However, B12 deficiency is still rarely integrated as a potential cause of sensory neuronopathy. Moreover, as many medical conditions can falsely normalize serum B12 levels even in the context of a real B12 deficiency, some cases may easily remain underdiagnosed. We report the illustrating case of an anorexic patient with sensory neuronopathy and consistently normal serum B12 levels. After all classical causes of sensory neuronopathy were ruled out, her clinical and electrophysiological conditions first worsened after folate administration, but finally improved dramatically after B12 administration. B12 deficiency should be systematically part of the etiologic workup of sensory neuronopathy, especially in a high risk context such as anorexia nervosa.

Subacute combined spinal cord degeneration and pancytopenia secondary to severe vitamin B12 deficiency

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José Luis Cabrerizo-García

Full Text Available CONTEXT: Decreased vitamin B12 concentration does not usually result in clinical or hematological abnormalities. Subacute combined spinal cord degeneration and pancytopenia are two serious and rarely displayed consequences that appear in severe deficits. CASE REPORT: We present the case of a patient with subacute combined spinal cord degeneration and pancytopenia secondary to severe and sustained vitamin B12 deficiency. Such cases are rare nowadays and have potentially fatal consequences. CONCLUSIONS: Vitamin B12 deficiency should be taken into consideration in the differential diagnosis in cases of blood disorders or severe neurological symptoms. Early diagnosis and treatment can avoid irreversible consequences.

PTP1B is a negative regulator of interleukin 4–induced STAT6 signaling

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Lu, Xiaoqing; Malumbres, Raquel; Shields, Benjamin; Jiang, Xiaoyu; Sarosiek, Kristopher A.; Natkunam, Yasodha

2008-01-01

Protein tyrosine phosphatase 1B (PTP1B) is a ubiquitously expressed enzyme shown to negatively regulate multiple tyrosine phosphorylation-dependent signaling pathways. PTP1B can modulate cytokine signaling pathways by dephosphorylating JAK2, TYK2, and STAT5a/b. Herein, we report that phosphorylated STAT6 may serve as a cytoplasmic substrate for PTP1B. Overexpression of PTP1B led to STAT6 dephosphorylation and the suppression of STAT6 transcriptional activity, whereas PTP1B knockdown or deficiency augmented IL-4–induced STAT6 signaling. Pretreatment of these cells with the PTK inhibitor staurosporine led to sustained STAT6 phosphorylation consistent with STAT6 serving as a direct substrate of PTP1B. Furthermore, PTP1B-D181A “substrate-trapping” mutants formed stable complexes with phosphorylated STAT6 in a cellular context and endogenous PTP1B and STAT6 interacted in an interleukin 4 (IL-4)–inducible manner. We delineate a new negative regulatory loop of IL-4–JAK-STAT6 signaling. We demonstrate that IL-4 induces PTP1B mRNA expression in a phosphatidylinositol 3-kinase–dependent manner and enhances PTP1B protein stability to suppress IL-4–induced STAT6 signaling. Finally, we show that PTP1B expression may be preferentially elevated in activated B cell–like diffuse large B-cell lymphomas. These observations identify a novel regulatory loop for the regulation of IL-4–induced STAT6 signaling that may have important implications in both neoplastic and inflammatory processes. PMID:18716132

Pedigree analysis of glucose-6 phosphate dehydrogenase (G6PD deficiency of a Javanese Chinese family in Indonesia

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IDG Ugrasena

2017-02-01

Full Text Available The molecular and pedigree analyses in a Javanese Chinese family were carried oul on glucose-6-phosphate dehydrogenase deficiencies. By method of  MPTP scanning without the sequencing steps, those variants could be confirmed. Two out of three sons were clinically jaundiced at birth due to G6PD deficiency and identified to have a G to T nucleotide change al 1376th nucleotide 01 the G6PD gene (GI376T, corresponding to G6PD Canton. Another son was also identified to have a C to T nucleotide change at 1311st nucleotide 01 the G6PD gene (CI311T, corresponding to a Silent mutation. Their father was normal, but their mother obsorved to have the heleromutation 01 G1376T (G6PD Canton and C1311T (a Silent mutation.

Potential Association of IL1B Polymorphism With Iron Deficiency Risk in Childhood Helicobacter pylori Infection.

Science.gov (United States)

Chen, Szu-Ta; Ni, Yen-Hsuan; Liu, Shing-Hwa

2018-02-01

Helicobacter pylori infection occurs predominantly in childhood. Host immune response gene polymorphism is reported to affect the susceptibility to H pylori infection and the outcome of H pylori-related gastric cancer. Not all H pylori-infected patients, however, exhibit iron deficiency (ID). The relationship between host genetic polymorphisms and ID mediated by H pylori infection is not well understood. Subjects (n = 644) from the general population of age 10 to 18 years were divided into 2 groups based on serology testing for anti-H pylori IgG: seropositive study group; and seronegative control group. Five single nucleotide polymorphisms (SNPs) in IL1B (rs1143627 and rs16944), IL8 (rs4073), IL10 (rs1800896), and ABO (rs505922), were genotyped and the iron status of the 2 groups was compared. The seroprevalence rate for H pylori was 10.7% in this study. Infected subjects were significantly older and had lower serum iron levels than uninfected subjects (P = 0.0195 and 0.0059, respectively). Multivariate analysis revealed a significantly higher frequency of the T allele of rs505922 (odds ratio [OR] = 6.128; P < 0.001) and lower frequency of the T allele of rs1143627 (OR = 0.846; P = 0.014) in seropositive subjects. Among 59 seropositive subjects, the T allele frequency of rs1143627 was significantly higher in those with ID (OR = 3.156; P = 0.043), compared with those without ID. ABO (rs505922) and IL1B (rs1143627) may affect H pylori infection susceptibility, and IL1B (rs1143627) may also influence ID risk in infected children.

Nutritional and Micronutrient Status of Female Workers in a Garment Factory in Cambodia.

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Makurat, Jan; Friedrich, Hanna; Kuong, Khov; Wieringa, Frank T; Chamnan, Chhoun; Krawinkel, Michael B

2016-11-02

Concerns about the nutritional status of Cambodian garment workers were raised years ago but data are still scarce. The objectives of this study are to examine the nutritional, hemoglobin and micronutrient status of female workers in a garment factory in Phnom Penh, Cambodia, and to assess if body mass index is associated with hemoglobin and/or micronutrient status. A cross-sectional survey was conducted among 223 female workers (nulliparous, non-pregnant) at a garment factory in Phnom Penh. Anthropometric measurements were performed and blood samples were taken to obtain results on hemoglobin, iron, vitamin A, vitamin B12 and inflammation status (hemoglobinopathies not determined). Bivariate correlations were used to assess associations. Overall, 31.4% of workers were underweight, 26.9% showed anemia, 22.1% showed iron deficiency, while 46.5% had marginal iron stores. No evidence of vitamin A or vitamin B12 deficiency was found. Body mass index was associated with serum ferritin (negative) and serum retinol-binding protein (positive) concentrations, but not strongly. A comparison between underweight and not underweight workers resulted in distinctions for iron deficiency and iron deficiency anemia, with a higher prevalence among not underweight. The prevalence of underweight, anemia and poor iron status was high. Young and nulliparous female garment workers in Cambodia might constitute a group with elevated risk for nutritional deficiencies. Strategies need to be developed for improving their nutritional, micronutrient and health status. The poor iron status seems to contribute to the overall prevalence of anemia. Low hemoglobin and iron deficiency affected both underweight and those not underweight. Despite the fact that body mass index was negatively associated with iron stores, true differences in iron status between underweight and not underweight participants cannot be confirmed.

Nutritional and Micronutrient Status of Female Workers in a Garment Factory in Cambodia

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Jan Makurat

2016-11-01

Full Text Available Background: Concerns about the nutritional status of Cambodian garment workers were raised years ago but data are still scarce. The objectives of this study are to examine the nutritional, hemoglobin and micronutrient status of female workers in a garment factory in Phnom Penh, Cambodia, and to assess if body mass index is associated with hemoglobin and/or micronutrient status. Methods: A cross-sectional survey was conducted among 223 female workers (nulliparous, non-pregnant at a garment factory in Phnom Penh. Anthropometric measurements were performed and blood samples were taken to obtain results on hemoglobin, iron, vitamin A, vitamin B12 and inflammation status (hemoglobinopathies not determined. Bivariate correlations were used to assess associations. Results: Overall, 31.4% of workers were underweight, 26.9% showed anemia, 22.1% showed iron deficiency, while 46.5% had marginal iron stores. No evidence of vitamin A or vitamin B12 deficiency was found. Body mass index was associated with serum ferritin (negative and serum retinol-binding protein (positive concentrations, but not strongly. A comparison between underweight and not underweight workers resulted in distinctions for iron deficiency and iron deficiency anemia, with a higher prevalence among not underweight. Conclusions: The prevalence of underweight, anemia and poor iron status was high. Young and nulliparous female garment workers in Cambodia might constitute a group with elevated risk for nutritional deficiencies. Strategies need to be developed for improving their nutritional, micronutrient and health status. The poor iron status seems to contribute to the overall prevalence of anemia. Low hemoglobin and iron deficiency affected both underweight and those not underweight. Despite the fact that body mass index was negatively associated with iron stores, true differences in iron status between underweight and not underweight participants cannot be confirmed.

Vitamin B-12 and Perinatal Health.

Science.gov (United States)

Finkelstein, Julia L; Layden, Alexander J; Stover, Patrick J

2015-09-01

Vitamin B-12 deficiency (importance of adequate vitamin B-12 status periconceptionally and during pregnancy cannot be overemphasized, given its fundamental role in neural myelination, brain development, and growth. Infants born to vitamin B-12-deficient women may be at increased risk of neural tube closure defects, and maternal vitamin B-12 insufficiency (pregnancy complications, few prospective studies and, to our knowledge, only 1 randomized trial have examined the effects of vitamin B-12 supplementation during pregnancy. The role of vitamin B-12 in the etiology of adverse perinatal outcomes needs to be elucidated to inform public health interventions. © 2015 American Society for Nutrition.

Iron Status and Inflammation in Early Stages of Chronic Kidney Disease

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Ewelina Łukaszyk

2015-06-01

Full Text Available Background/Aims: One of the most common causes of anemia of chronic disease (ACD is chronic kidney disease. The main pathomechanism responsible for ACD is subclinical inflammation. The key element involved in iron metabolism is hepcidin, however, studies on new indices of iron status are in progress.The aim of the study was to assess the iron status in patients in early stages of chronic kidney disease, iron correlation with inflammation parameters and novel biomarkers of iron metabolism. Methods: The study included 69 patients. Standard laboratory measurements were used to measure the iron status, complete blood count, fibrinogen, prothrombin index, C-reactive protein concentration (CRP, creatinine, urea, uric acid. Commercially available kits were used to measure high-sensitivity CRP, interleukin 6 (IL-6, hepcidin-25, hemojuvelin, soluble transferrin receptor (sTfR, growth differentiation factor-15 (GDF-15 and zonulin. Results: Absolute iron deficiency was present in 17% of the patients, functional iron deficiency was present in 12% of the patients. Functional iron deficiency was associated with significantly higher serum levels of fibrinogen, ferritin, transferrin saturation, total iron binding capacity, hepcidin and older age relative to patients with absolute iron deficiency. In comparison with patients without iron deficiency, patients with functional iron deficiency were older, with lower prothrombin index, higher fibrinogen, CRP, hsCRP, sTfR, GDF-15, urea and lower eGFR. Hepcidin was predicted by markers of inflammation:ferritin, fibrinogen and IL-6. Conclusion: Inflammation is correlated with iron status. Novel biomarkers of iron metabolism might be useful to distinguish iron deficiency anemia connected with inflammation and absolute iron deficiency.

Molecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in huzestan Province, Southwest Iran

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Kazemi Nezhad, Seyed Reza; Fahmi, Fatemeh; Khatami, Saeid Reza; Musaviun, Mohsen

2011-01-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C) is a common G6PD mutation in some parts of . Therefore in the present study we have characterized mutation among G6PD deficient individuals in Khuzestan province. In order to identify G6PD Cosenza, we analyzed the G6PD gene in 64 samples out of 231 deficient individuals who had not G6PD Mediterranean mutation, using PCR- restriction fragment length polymorphism (RFLP) method. G6PD Cosenza mutation was found in 6 males of 231 samples, resulting in the relative rate of 2.6% and allele frequency of 0.023 among Khuzestanian G6PD deficient subjects. A comparison of these results with previous findings in some parts of suggests that G6PD Cosenza is a common mutation in Khuzestanian G6PD deficient individuals. PMID:23365477

The influence of puberty on vitamin D status in obese children and the possible relation between vitamin D deficiency and insulin resistance.

Science.gov (United States)

Gutiérrez Medina, Sonsoles; Gavela-Pérez, Teresa; Domínguez-Garrido, María Nieves; Gutiérrez-Moreno, Elisa; Rovira, Adela; Garcés, Carmen; Soriano-Guillén, Leandro

2015-01-01

Puberty can affect vitamin D levels. The goal of this study was to analyze the relation between vitamin D deficiency and puberty in obese Spanish children, along with the possible interrelation between vitamin D status and degree of insulin resistance. A cross-sectional study was carried out, in which clinical and biochemical data were gathered from 120 obese and 50 normal weight children between January 2011 and January 2013. Mean vitamin D levels were 19.5 and 31.6 ng/mL in obese pubertal and obese prepubertal children, respectively. About 75% of the obese pubertal subjects and 46% of the obese prepubertal subjects had vitamin D deficiency. Vitamin D levels were significantly lower in pubescent subjects compared with pre-pubescent subjects in summer, fall, and winter. There was no apparent relation between vitamin D levels and homeostasis model assessment index for insulin resistence (expressed in standard deviation score for sex and Tanner stage) in either puberty or pre-puberty. Puberty may be a risk factor for the vitamin D deficiency commonly found in the obese child population. This deficiency is not associated with higher insulin resistance in obese pubertal children compared with obese prepubertal children.

Fisiopatologia da deficiência de vitamina B12 e seu diagnóstico laboratorial

OpenAIRE

Paniz,Clóvis; Grotto,Denise; Schmitt,Gabriela Cristina; Valentini,Juliana; Schott,Karen Lílian; Pomblum,Valdeci Juarez; Garcia,Solange Cristina

2005-01-01

INTRODUÇÃO: A vitamina B12 é hidrossolúvel, não-sintetizada pelo organismo humano, presente em alimentos de origem animal. Sua deficiência é muito freqüente entre idosos, vegetarianos e indivíduos que adotam baixa dieta protéica ou apresentam problemas de absorção gastrintestinal. FISIOPATOLOGIA: A deficiência de vitamina B12 leva a transtornos hematológicos, neurológicos e cardiovasculares, principalmente, por interferir no metabolismo da homocisteína (Hcy) e nas reações de metilação do orga...

Case of sensory ataxic ganglionopathy-myelopathy in copper deficiency.

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Zara, Gabriella; Grassivaro, Francesca; Brocadello, Filippo; Manara, Renzo; Pesenti, Francesco Francini

2009-02-15

Spinal cord involvement associated with severe copper deficiency has been reported in the last 8 years. Copper deficiency may produce an ataxic myelopathy. Clinical and neuroimaging findings are similar to the subacute combined degeneration seen in patients with vitamin B12 deficiency. Macrocytic, normocytic and microcytic anemia, leukopenia and, in severe cases, pancytopenia are well known hematologic manifestations. The most patients with copper deficiency myelopathy had unrecognized carency. Some authors suggested that early recognition and copper supplementation may prevent neurologic deterioration but clinical findings do not improve. We present a patient with copper deficiency, dorsal root ganglions and cervical dorsal columns involvement. Clinical status and neuroimaging improved after copper replacement therapy. Sensory neurons of dorsal root ganglia may be the most sensitive nervous pathway. In this case the early copper treatment allowed to improve neurologic lesions and to prevent further involvements.

Societal Costs of Micronutrient Deficiencies in 6- to 59-month-old Children in Pakistan.

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Wieser, Simon; Brunner, Beatrice; Tzogiou, Christina; Plessow, Rafael; Zimmermann, Michael B; Farebrother, Jessica; Soofi, Sajid; Bhatti, Zaid; Ahmed, Imran; Bhutta, Zulfiqar A

2017-12-01

In Pakistan, nearly half of children younger than 5 years are stunted, and 1 in 3 is underweight. Micronutrient deficiencies, a less visible form of undernutrition, are also endemic. They may lead to increased morbidity and mortality as well as to impaired cognitive and physical development. To estimate the lifetime costs of micronutrient deficiencies in Pakistani children aged between 6 and 59 months. We develop a health economic model of the lifetime health and cost consequences of iodine, iron, vitamin A, and zinc deficiencies. We assess medical costs, production losses in terms of future incomes lost, and disability-adjusted life-years (DALYs). The estimation is based on large population surveys, information on the health consequences of micronutrient deficiencies extracted from randomized trials, and a variety of other sources. Total societal costs amount to US$46 million in medical costs, US$3,222 million in production losses, and 3.4 million DALYs. Costs are dominated by the impaired cognitive development induced by iron-deficiency anemia in 6- to 23-month-old children and the mortality caused by vitamin A deficiency. Costs are substantially higher in poorer households. Societal costs amounted to 1.44% of gross domestic product and 4.45% of DALYs in Pakistan in 2013. These costs hinder the country's development. They could be eliminated by improved nutrition of 6- to 59-month-old children and public health measures. Our results may contribute to the design of cost-effective interventions aiming to reduce micronutrient deficiencies in early childhood and their lifetime consequences.

Cobalamin deficiency, hyperhomocysteinemia, and dementia

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Steven F Werder

2010-04-01

Full Text Available Steven F Werder1,21Kansas University School of Medicine – Wichita, Wichita, KS, USA; 2Community Health Center of Southeast Kansas, Pittsburg, KS, USAIntroduction: Although consensus guidelines recommend checking serum B12 in patients with dementia, clinicians are often faced with various questions: (1 Which patients should be tested? (2 What test should be ordered? (3 How are inferences made from such testing? (4 In addition to serum B12, should other tests be ordered? (5 Is B12 deficiency compatible with dementia of the Alzheimer’s type? (6 What is to be expected from treatment? (7 How is B12 deficiency treated?Methods: On January 31st, 2009, a Medline search was performed revealing 1,627 citations related to cobalamin deficiency, hyperhomocysteinemia, and dementia. After limiting the search terms, all abstracts and/or articles and other references were categorized into six major groups (general, biochemistry, manifestations, associations and risks, evaluation, and treatment and then reviewed in answering the above questions.Results: The six major groups above are described in detail. Seventy-five key studies, series, and clinical trials were identified. Evidence-based suggestions for patient management were developed.Discussion: Evidence is convincing that hyperhomocysteinemia, with or without hypovitaminosis B12, is a risk factor for dementia. In the absence of hyperhomocysteinemia, evidence is less convincing that hypovitaminosis B12 is a risk factor for dementia. B12 deficiency manifestations are variable and include abnormal psychiatric, neurological, gastrointestinal, and hematological findings. Radiological images of individuals with hyperhomocysteinemia frequently demonstrate leukoaraiosis. Assessing serum B12 and treatment of B12 deficiency is crucial for those cases in which pernicious anemia is suspected and may be useful for mild cognitive impairment and mild to moderate dementia. The serum B12 level is the standard initial test

LiB and its boron-deficient variants under pressure

KAUST Repository

Hermann, Andreas

2012-10-15

Results of computational investigations of the structural and electronic properties of the ground states of binary compounds LiB x with 0.67 ≤x≤1.00 under pressure are reported. Structure predictions based on evolutionary algorithms and particle swarm optimization reveal that with increasing pressure, stoichiometric 1:1-LiB undergoes a variety of phase transitions, is significantly stabilized with respect to the elements and takes up a diamondoid boron network at high pressures. The Zintl picture is very useful in understanding the evolution of structures with pressure. The experimentally seen finite range of stability for LiB x phases with 0.8≤x≤1.00 is modeled both by boron-deficient variants of the 1:1-LiB structure and lithium-enriched intercalation structures. We find that the finite stability range vanishes at pressures P≥40GPa, where stoichiometric compounds then become more stable. A metal-to-insulator transition for LiB is predicted at P = 70 GPa. © 2012 American Physical Society.

LiB and its boron-deficient variants under pressure

KAUST Repository

Hermann, Andreas; Suarez-Alcubilla, Ainhoa; Gurtubay, Idoia G.; Yang, Li-Ming; Bergara, Aitor; Ashcroft, N. W.; Hoffmann, Roald

2012-01-01

Results of computational investigations of the structural and electronic properties of the ground states of binary compounds LiB x with 0.67 ≤x≤1.00 under pressure are reported. Structure predictions based on evolutionary algorithms and particle swarm optimization reveal that with increasing pressure, stoichiometric 1:1-LiB undergoes a variety of phase transitions, is significantly stabilized with respect to the elements and takes up a diamondoid boron network at high pressures. The Zintl picture is very useful in understanding the evolution of structures with pressure. The experimentally seen finite range of stability for LiB x phases with 0.8≤x≤1.00 is modeled both by boron-deficient variants of the 1:1-LiB structure and lithium-enriched intercalation structures. We find that the finite stability range vanishes at pressures P≥40GPa, where stoichiometric compounds then become more stable. A metal-to-insulator transition for LiB is predicted at P = 70 GPa. © 2012 American Physical Society.

Intravenous immunoglobulin to treat hyperbilirubinemia in neonates with isolated Glucose-6-Phosphate dehydrogenase deficiency

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Wadah Khriesat

2017-04-01

Full Text Available Background Glucose-6-phosphate dehydrogenase deficiency alone or concomitant with ABO isoimmunisation is a widespread indication for neonatal exchange transfusion. Aims To evaluate the effectiveness of Intravenous Immunoglobulin in the treatment of neonatal hyperbilirubinemia due to glucose-6-phosphate dehydrogenase deficiency. Methods A retrospective cohort study was conducted between 2006 and 2014 at the Jordan University of Science and technology. The medical records of 43 infants admitted to the neonatal intensive care unit for isolated glucose-6- phosphate dehydrogenase deficiency hemolytic disease of the newborns were reviewed. Patients were divided into two groups. Group I, a historical cohort, included newborns born between 2006 and 2010, Treatment included phototherapy and exchange transfusion. Group II included newborns born between 2011 and 2014, where, in addition to phototherapy, intravenous immunoglobulin was administered. The duration of phototherapy and number of exchange transfusions were evaluated. Results Of 412 newborns that were admitted with neonatal hyperbilirubinemia, Glucose-6-phosphate dehydrogenase deficiency was present in 43. Of these, 22, did not receive intravenous immunoglobulin and served as a control group. The other 21 newborns received intravenous immunoglobulin. There was no difference in the demographic characteristics between the two groups. Infants in the control group were significantly more likely to receive exchange blood transfusion than infants in the immunoglobulin treatment group, but were significantly less likely to need phototherapy. Conclusion Intravenous immunoglobulin is an effective alternative to exchange transfusion in infants with glucose-6-phosphate dehydrogenase deficiency hemolytic disease of the newborn. It is suggested that intravenous immunoglobulin may be beneficial as a prophylaxis for infants with hyperbilirubinemia.

Molecular Characterization of Cosenza Mutation among Patients with Glucose-6-Phosphate Dehydrogenase Deficiency in Khuzestan Province, Southwest Iran

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Seyed Reza Kazemi Nezhad

2011-03-01

Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency is one of the most common hereditary enzymatic disorders in human, increases the vulnerability of erythrocytes to oxidative stress. It is also characterized by remarkable molecular and biochemical heterogeneity. According to previous investigations, G6PD Cosenza (G1376C is a common G6PD mutation in some parts of Iran. Therefore in the present study we have characterized Cosenza mutation among G6PD deficient individuals in Khuzestan province. In order to identify G6PD Cosenza, we analyzed the G6PD gene in 64 samples out of 231 deficient individuals who had not G6PD Mediterranean mutation, using PCR- restriction fragment length polymorphism (RFLP method. G6PD Cosenza mutation was found in 6 males of 231 samples, resulting in the relative rate of 2.6% and allele frequency of 0.023 among Khuzestanian G6PD deficient subjects. A comparison of these results with previous findings in some parts of Iran suggests that G6PD Cosenza is a common mutation in Khuzestanian G6PD deficient individuals

Prevalence of glucose-6-phosphate dehydrogenase deficiency and sickle cell trait among blood donors in Riyadh

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Alabdulaali Mohammed

2010-01-01

Full Text Available Background and Aims: Blood donation from glucose-6-phosphate dehydrogenase (G6PD-deficient and sickle cell trait (SCT donors might alter the quality of the donated blood during processing, storage or in the recipient′s circulatory system. The aim of this study was to determine the prevalence of G6PD deficiency and SCT among blood donors coming to King Khalid University Hospital (KKUH in Riyadh. It was also reviewed the benefits and risks of transfusing blood from these blood donors. Materials and Methods: This cross-sectional study was conducted on 1150 blood samples obtained from blood donors that presented to KKUH blood bank during the period April 2006 to May 2006. All samples were tested for Hb-S by solubility test, alkaline gel electrophoresis; and for G6PD deficiency, by fluorescent spot test. Results: Out of the 1150 donors, 23 (2% were diagnosed for SCT, 9 (0.78% for G6PD deficiency and 4 (0.35% for both conditions. Our prevalence of SCT and G6PD deficiency is higher than that of the general population of Riyadh. Conclusion: We recommend to screen all units for G6PD deficiency and sickle cell trait and to defer donations from donors with either of these conditions, unless if needed for special blood group compatibility, platelet apheresis or if these are likely to affect the blood bank inventory. If such blood is to be used, special precautions need to be undertaken to avoid complications in high-risk recipients.

Recreational Nitrous Oxide Abuse-Induced Vitamin B12 Deficiency in a Patient Presenting with Hyperpigmentation of the Skin

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Tsung-Ta Chiang

2013-06-01

Full Text Available Vitamin B12 deficiency causes skin hyperpigmentation, subacute combined degeneration of the spinal cord, and megaloblastic anemia. Although vitamin B12 deficiency rarely occurs in well-nourished, healthy, young people, nitrous oxide (N2O intoxication is an important cause of vitamin B12 deficiency in this cohort. N2O, a colorless gas used as an anesthetic since the late 19th century because of its euphoric and analgesic qualities, is now used as a recreational drug and is available via the Internet and at clubs. Here, we describe the case of a 29-year-old woman presenting with skin hyperpigmentation as her only initial symptom after N2O abuse for approximately 2 years. N2O intoxication-induced vitamin B12 deficiency was diagnosed based on the skin pigmentation that had manifested over the dorsa of her fingers, toes, and trunk, coupled with myeloneuropathy of the posterior and lateral columns, a low serum vitamin B12 level, an elevated serum homocysteine level, and the N2O exposure revealed while establishing the patient's history. Symptoms improved significantly with vitamin B12 treatment. We recommend that dermatologists consider N2O intoxication-induced vitamin B12 deficiency as a potential cause of skin hyperpigmentation and myeloneuropathy of the posterior and lateral columns in young, otherwise healthy patients. Failure to recognize this presentation may result in inappropriate treatment, thus affecting patients' clinical outcomes.

Induction of passive Heymann nephritis in complement component 6-deficient PVG rats.

Science.gov (United States)

Spicer, S Timothy; Tran, Giang T; Killingsworth, Murray C; Carter, Nicole; Power, David A; Paizis, Kathy; Boyd, Rochelle; Hodgkinson, Suzanne J; Hall, Bruce M

2007-07-01

Passive Heymann nephritis (PHN), a model of human membranous nephritis, is induced in susceptible rat strains by injection of heterologous antisera to rat renal tubular Ag extract. PHN is currently considered the archetypal complement-dependent form of nephritis, with the proteinuria resulting from sublytic glomerular epithelial cell injury induced by the complement membrane attack complex (MAC) of C5b-9. This study examined whether C6 and MAC are essential to the development of proteinuria in PHN by comparing the effect of injection of anti-Fx1A antisera into PVG rats deficient in C6 (PVG/C6(-)) and normal PVG rats (PVG/c). PVG/c and PVG/C6(-) rats developed similar levels of proteinuria at 3, 7, 14, and 28 days following injection of antisera. Isolated whole glomeruli showed similar deposition of rat Ig and C3 staining in PVG/c and PVG/C6(-) rats. C9 deposition was abundant in PVG/c but was not detected in PVG/C6(-) glomeruli, indicating C5b-9/MAC had not formed in PVG/C6(-) rats. There was also no difference in the glomerular cellular infiltrate of T cells and macrophages nor the size of glomerular basement membrane deposits measured on electron micrographs. To examine whether T cells effect injury, rats were depleted of CD8+ T cells which did not affect proteinuria in the early heterologous phase but prevented the increase in proteinuria associated with the later autologous phase. These studies showed proteinuria in PHN occurs without MAC and that other mechanisms, such as immune complex size, early complement components, CD4+ and CD8+ T cells, disrupt glomerular integrity and lead to proteinuria.

Vitamin B12 deficiency is associated with cardiovascular autonomic neuropathy in patients with type 2 diabetes

DEFF Research Database (Denmark)

Hansen, Christian S; Jensen, Jan S; Ridderstråle, Martin

2017-01-01

.01; 0.43, p=0.038), and a decrease in 5min RHR of 0.25 beats per minute (95% CI -0.47; -0.03, p=0.025). CONCLUSION: Vitamin B12 may be inversely associated with CAN in patients with type 2 diabetes. Confirmatory studies investigating a causal role of vitamin B12 for the development of diabetic CAN......AIMS: Vitamin B12 deficiency could be associated with cardiovascular autonomic neuropathy (CAN) in diabetes patients. We aim to investigate the association between serum levels of vitamin B12 and CAN in type 2 diabetes patients. METHODS: 469 ambulatory type 2 diabetes patients (mean diabetes...... duration 10.0years (IQR 5.0;17.0), mean age 59.0years (SD 11.6), 63% men, mean B12 289.0pmol/l (IQR 217;390)) were screened for CAN using three cardiovascular reflex tests, five minute resting heart rate (5min RHR) and heart rate variability indices. RESULTS: Serum levels of vitamin B12 were significantly...

Vitamin B6

Science.gov (United States)

... pork Nuts Poultry Whole grains and fortified cereals Canned chickpeas Fortified breads and cereals may also contain vitamin B6. Fortified means that a vitamin or mineral has been added to the food. Side Effects Large doses of vitamin B6 can cause: Difficulty ...

Hyperbilirubinaemia and erythrocytic glucose 6 phosphate dehydrogenase deficiency in Malaysian children.

Science.gov (United States)

Hon, A T; Balakrishnan, S; Ahmad, Z

1989-03-01

Cord blood from 8,975 babies delivered in Hospital Sultanah Aminah Johor Bahru over a period of eight months (1st August 1985 to 31st March 1986) were screened for G6PD deficiency. The overall incidence was 4.5% in Chinese, 3.5% in Malays and 1.5% in Indian babies. One hundred of these babies were observed in the nursery for seven days and their daily serum bilirubin recorded. The serum bilirubin peaked at 96 hours to a value of 12mg%. None of the babies in the nursery developed a serum bilirubin level of more than 15mg%. Six of the babies with G6PD deficiency that were sent home were readmitted with hyperbilirubinaemia that needed exchange transfusion.

Dietary magnesium deficiency affects gut microbiota and anxiety-like behaviour in C57BL/6N mice.

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Pyndt Jørgensen, Bettina; Winther, Gudrun; Kihl, Pernille; Nielsen, Dennis S; Wegener, Gregers; Hansen, Axel K; Sørensen, Dorte B

2015-10-01

Magnesium deficiency has been associated with anxiety in humans, and rodent studies have demonstrated the gut microbiota to impact behaviour. We investigated the impact of 6 weeks of dietary magnesium deficiency on gut microbiota composition and anxiety-like behaviour and whether there was a link between the two. A total of 20 C57BL/6 mice, fed either a standard diet or a magnesium-deficient diet for 6 weeks, were tested using the light-dark box anxiety test. Gut microbiota composition was analysed by denaturation gradient gel electrophoresis. We demonstrated that the gut microbiota composition correlated significantly with the behaviour of dietary unchallenged mice. A magnesium-deficient diet altered the gut microbiota, and was associated with altered anxiety-like behaviour, measured by decreased latency to enter the light box. Magnesium deficiency altered behavior. The duration of magnesium deficiency is suggested to influence behaviour in the evaluated test.

On the influence of ionizing irradiation on the vitamin B6 metabolism in man

International Nuclear Information System (INIS)

Koehler-Klosa, G.

1981-01-01

In 50 female patients suffering from an endometrium carcinoma in stage I to IV, the vitamin B 6 level was determined by the erythrocytic glutamic-oxalacetic transaminase (GOT), and its activation coefficients at different instants before and during radiation therapy were calculated. Simultaneously the haemoglobin content of the blood and the behaviour of the leukocytes and thrombocytes was investigated under the high voltage irradiation. To 49 patients 300 mg pyridoxin were administered perorally every day during the irradiation treatment which lasted several weeks. It resulted that in endometrium carcinomas the vitamin B 6 levels in the blood are decreased, and in proceeded stages more often vitamin B 6 deficits are observed. Even after daily administrations of vitamin B 6 the values of the activation coefficients of the erythrocytic glutamic-oxalacetic transaminase only slowly return to normal. Thus apparently relatively high pyridoxin doses seem to be necessary in order to remove the irradiation-induced vitamin B 6 disorder. After daily oral administration of 300 mg pyridoxin in no case a biochemical vitamin B 6 deficit under radiation therapy was observed. The leukocytes show under radiotherapy the expected decrease. Leukopenia requiring the discontinuation of interruption of the radiation treatment did not occur during vitamin B 6 administration. A careful control of the thrombocytes is also under vitamin B 6 administration necessary, but fatal thrombocytoponia could not be observed. With reference to the haemoglobin content in most cases a decrease was found, which apparently can not be prevented by the application of vitamin B 6 . An influence on the vitamin B 6 level by the patient's age could not be found. Finally it has to be indicated that by determining the activation coefficient of the erythrocytic glutamic-oxalacetic transaminase, indirectly the vitamin B 6 deficiency can be detected without any serious disturbance for the patient. (orig./MG) [de

Neutron diffraction studies on GdB{sub 6} and TbB{sub 6} powders

Energy Technology Data Exchange (ETDEWEB)

Luca, S.E.; Amara, M.; Galera, R.M.; Givord, F.; Granovsky, S.; Isnard, O.; Beneu, B

2004-07-15

We report here the first powder neutron diffraction study of GdB{sub 6} and TbB{sub 6}. GdB{sub 6} and TbB{sub 6} order antiferromagnetically at 15 and 21 K, respectively. In both compounds the transition at T{sub N} is of the first order. Moreover GdB{sub 6} presents a second spontaneous magnetic transition at T{sup *}=8 K. The present study shows that, in both compounds, the magnetic propagation vectors belong to the <((1)/(4)) ((1)/(4)) ((1)/(2))> star and that the direction of the magnetic moment is perpendicular to the ((1)/(2)) component of the wave-vector in GdB{sub 6}, while in TbB{sub 6} the moment is parallel to it. The deduced low-temperature values of the magnetic moments agree with those of the respective rare-earth trivalent ions.

The first evaluation of glucose-6-phosphate dehydrogenase deficiency (G6PD) gene mutation in malaria-endemic region at South Central Timor (SCT) district, Eastern Indonesia 2015-2016

Science.gov (United States)

Hutagalung, J.; Kusnanto, H.; Supargiyono; Sadewa, A. H.; Satyagraha, A. W.

2018-03-01

Primaquine (PQ) is the only licensed drug effective against P. vivax for specific hypnozoites and as a key drug in the malaria elimination stage. However, PQ can cause severe hemolysis in G6PD deficient individuals. Unfortunately, few epidemiological data of these disorders was in Indonesia. This study aimed to assesses the prevalence and genotyping variant of G6PDd among the people on malaria-endemic. Blood samples from 555 unrelated subjects in eastern Indonesia were for G6PDd by quantitative test and PCR-RFLP-DNA sequencing. All protocols followed by Promega, Madison, USA. The prevalence of malaria and anemia was 32.6% (181/555) and 16% (89/555) with P. vivaxdominant species 52.5% (95/181), respectively. Overall, 16.6% (92/555) subjects were G6PD deficient, including 58.7% (54/92) females and 41.3% (38/92). Among the 92 cases G6PD deficient molecularly studied, the genotype variant Vanua Lava (T10883C) were detected dominant and unknown G6PD deficient (T-13.154-C) in 3 cases. It was high G6PD deficient in eastern Indonesia indicate that diagnosis and management of G6PD deficient are necessary. Obligatory anti-malaria doses for G6PD deficient individuals, population screening, are needed on endemic malaria in eastern Indonesia.

[Severe vitamin D deficiency in children from Punta Arenas, Chile: Influence of nutritional status on the response to supplementation].

Science.gov (United States)

Brinkmann, Karin; Le Roy, Catalina; Iñiguez, Germán; Borzutzky, Arturo

2015-01-01

There is a high risk of vitamin D (VD) deficiency in the population of southern Chile that can be treated with VD supplements. Weight excess (WE) can influence the response to supplements. To study the prevalence of VD deficiency and the effect of cholecalciferol (VD3) supplements in healthy children from Punta Arenas, Chile, and evaluate a possible association with nutritional status. Demographic and anthropometric data, as well as laboratory assessment of serum 25-hidroxyvitamin D (25OHD) and other bone metabolism parameters were evaluated. After baseline evaluation, children were supplemented with VD3 1600 IU/day for one month, after which 25OHD was retested. Of the 108 children studied, 50% were boys, and had a mean age of 9.6±0.5 years. Nutritional assessment showed that 39% had normal weight, 46% were overweight, and 15% were obese. Median 25OHD was 10.9ng/ml: 96.3% had deficiency (30ng/ml). Children with WE had a significantly lower increase in 25OHD than children with normal weight (5±5.5 vs. 7.7±4.9, p=03). Children with WE may require 32% higher VD dose than normal weight children to attain the same 25OHD concentration. Chilean schoolchildren from Punta Arenas have high prevalence of WE and VD deficiency, with a majority in the range of severe VD deficiency. WE interferes in the response to VD supplementation, leading to a lower increase in 25OHD. Copyright © 2015 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Comparison of Spectrophotometry, Chromate Inhibition, and Cytofluorometry Versus Gene Sequencing for Detection of Heterozygously Glucose-6-Phosphate Dehydrogenase-Deficient Females.

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Peters, Anna L; Veldthuis, Martijn; van Leeuwen, Karin; Bossuyt, Patrick M M; Vlaar, Alexander P J; van Bruggen, Robin; de Korte, Dirk; Van Noorden, Cornelis J F; van Zwieten, Rob

2017-11-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzyme deficiency worldwide. Detection of heterozygously deficient females can be difficult as residual activity in G6PD-sufficient red blood cells (RBCs) can mask deficiency. In this study, we compared accuracy of 4 methods for detection of G6PD deficiency in females. Blood samples from females more than 3 months of age were used for spectrophotometric measurement of G6PD activity and for determination of the percentage G6PD-negative RBCs by cytofluorometry. An additional sample from females suspected to have G6PD deficiency based on the spectrophotometric G6PD activity was used for measuring chromate inhibition and sequencing of the G6PD gene. Of 165 included females, 114 were suspected to have heterozygous deficiency. From 75 females, an extra sample was obtained. In this group, mutation analysis detected 27 heterozygously deficient females. The sensitivity of spectrophotometry, cytofluorometry, and chromate inhibition was calculated to be 0.52 (confidence interval [CI]: 0.32-0.71), 0.85 (CI: 0.66-0.96), and 0.96 (CI: 0.71-1.00, respectively, and the specificity was 1.00 (CI: 0.93-1.00), 0.88 (CI: 0.75-0.95), and 0.98 (CI: 0.89-1.00), respectively. Heterozygously G6PD-deficient females with a larger percentage of G6PD-sufficient RBCs are missed by routine methods measuring total G6PD activity. However, the majority of these females can be detected with both chromate inhibition and cytofluorometry.

State of cognitive development in children 5-6 years of age with nutritional iron deficiency

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Chechel V.V.

2014-06-01

Full Text Available Features of the development of cognitive functions in children 5-6 years of age with iron deficiency (ID were studied and the relationship of the revealed features of iron deficiency degree was established. After clinical and laboratory examination 205 children aged 5-6 years, pupils of pre-school institutions were included in the study. The core group consisted of 155 children, including 105 children with latent iron deficiency (LID and 50 children with iron deficiency anemia (IDA I degree. The control group consisted of 50 healthy children. To study cognitive function, "Approximate comprehensive program of study of children's readiness for school" was used. A significant decrease of average data of all mental functions (perception, memory, language, thinking, ima¬gination in children 5-6 years old with ID, most pronounced in children with IDA was revealed. Indicators of cognitive functions correspond predominantly to a mild and moderate level of development in children with IDA, the average - in children with LID, good and high - in healthy children. There was a significant direct correlation between the level of cognitive functioning and the level of hemoglobin, serum iron and ferritin. The effect of iron deficiency on the development of indicators of cognitive function toward their reduce in preschool children was established. The level of cognitive functioning depends on the degree of iron deficiency.

Hepatic glucose-6-phosphatase-α deficiency leads to metabolic reprogramming in glycogen storage disease type Ia.

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Cho, Jun-Ho; Kim, Goo-Young; Mansfield, Brian C; Chou, Janice Y

2018-04-15

Glycogen storage disease type Ia (GSD-Ia) is caused by a deficiency in glucose-6-phosphatase-α (G6Pase-α or G6PC), a key enzyme in endogenous glucose production. This autosomal recessive disorder is characterized by impaired glucose homeostasis and long-term complications of hepatocellular adenoma/carcinoma (HCA/HCC). We have shown that hepatic G6Pase-α deficiency-mediated steatosis leads to defective autophagy that is frequently associated with carcinogenesis. We now show that hepatic G6Pase-α deficiency also leads to enhancement of hepatic glycolysis and hexose monophosphate shunt (HMS) that can contribute to hepatocarcinogenesis. The enhanced hepatic glycolysis is reflected by increased lactate accumulation, increased expression of many glycolytic enzymes, and elevated expression of c-Myc that stimulates glycolysis. The increased HMS is reflected by increased glucose-6-phosphate dehydrogenase activity and elevated production of NADPH and the reduced glutathione. We have previously shown that restoration of hepatic G6Pase-α expression in G6Pase-α-deficient liver corrects metabolic abnormalities, normalizes autophagy, and prevents HCA/HCC development in GSD-Ia. We now show that restoration of hepatic G6Pase-α expression normalizes both glycolysis and HMS in GSD-Ia. Moreover, the HCA/HCC lesions in L-G6pc-/- mice exhibit elevated levels of hexokinase 2 (HK2) and the M2 isoform of pyruvate kinase (PKM2) which play an important role in aerobic glycolysis and cancer cell proliferation. Taken together, hepatic G6Pase-α deficiency causes metabolic reprogramming, leading to enhanced glycolysis and elevated HMS that along with impaired autophagy can contribute to HCA/HCC development in GSD-Ia. Published by Elsevier Inc.

Pervasive and stochastic changes in the TCR repertoire of regulatory T-cell-deficient mice.

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Zheng, Lingjie; Sharma, Rahul; Kung, John T; Deshmukh, Umesh S; Jarjour, Wael N; Fu, Shu Man; Ju, Shyr-Te

2008-04-01

We hypothesize that regulatory T-cell (Treg)-deficient strains have an altered TCR repertoire in part due to the expansion of autoimmune repertoire by self-antigen. We compared the Vbeta family expression profile between B6 and Treg-lacking B6.Cg-Foxp3(sf)(/Y) (B6.sf) mice using fluorescent anti-Vbeta mAbs and observed no changes. However, while the spectratypes of 20 Vbeta families among B6 mice were highly similar, the Vbeta family spectratypes of B6.sf mice were remarkably different from B6 mice and from each other. Significant spectratype changes in many Vbeta families were also observed in Treg-deficient IL-2 knockout (KO) and IL-2Ralpha KO mice. Such changes were not observed with anti-CD3 mAb-treated B6 mice or B6 CD4+CD25- T cells. TCR transgenic (OT-II.sf) mice displayed dramatic reduction of clonotypic TCR with concomitant increase in T cells bearing non-transgenic Vbeta and Valpha families, including T cells with dual receptors expressing reduced levels of transgenic Valpha and endogenous Valpha. Collectively, the data demonstrate that Treg deficiency allows polyclonal expansion of T cells in a stochastic manner, resulting in widespread changes in the TCR repertoire.

Assessment of iron status among preschool children (6 to 59 months) with and without malaria in Western Province, Kenya

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Kisiangani, Isaac; Mbakaya, Charles; Makokha, Anzelimo; Magu, Dennis

2015-01-01

Introduction Iron deficiency is a major public health concern. Globally, iron deficiency ranks number 9 and is responsible for about 60% of all anemia cases among preschool children. In Africa iron deficiency is 43-52% while in Kenya, children under 5 years constitute the largest burden with 69% of them being deficient. There is limited iron deficiency data in Kenya. This study determined haemoglobin levels, serum ferritin levels, nutritional status and P.falciparum malaria infection in preschool children. Methods A household cross sectional study was undertaken among 125 preschoolers in Western province, drawn from 37 clusters. Systematic random sampling was used for sample selection. Data was collected using pretested structured questionnaires, entered in Microsoft package. Data analysis was done in Statistical package for social science (SPSS) version 20 using bivariate and multivariate logistic regression and differences were considered significant at P iron deficiency (Serum ferritin iron deficiency and anaemia (OR = 3.43, 95% CI: 1.33-8.84, p = 0.008). A preschool child with anaemia was 3.43 times likely to be iron deficient compared to a preschool child who was not anaemic. Conclusion Iron deficiency, anaemia and plasmodium falciparum malaria was prevalent among preschool children. The findings revealed a significant association between iron deficiency and anaemia. Therefore effective interventions to improve iron status will have large health benefits by greatly reducing anaemia in preschool children. PMID:26405498

Attentional processing in C57BL/6J mice exposed to developmental vitamin D deficiency.

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Lauren R Harms

Full Text Available Epidemiological evidence suggests that Developmental Vitamin D (DVD deficiency is associated with an increased risk of schizophrenia. DVD deficiency in mice is associated with altered behaviour, however there has been no detailed investigation of cognitive behaviours in DVD-deficient mice. The aim of this study was to determine the effect of DVD deficiency on a range of cognitive tasks assessing attentional processing in C57BL/6J mice. DVD deficiency was established by feeding female C57BL/6J mice a vitamin D-deficient diet from four weeks of age. After six weeks on the diet, vitamin D-deficient and control females were mated with vitamin D-normal males and upon birth of the pups, all dams were returned to a diet containing vitamin D. The adult offspring were tested on a range of cognitive behavioural tests, including the five-choice serial reaction task (5C-SRT and five-choice continuous performance test (5C-CPT, as well as latent inhibition using a fear conditioning paradigm. DVD deficiency was not associated with altered attentional performance on the 5C-SRT. In the 5C-CPT DVD-deficient male mice exhibited an impairment in inhibiting repetitive responses by making more perseverative responses, with no changes in premature or false alarm responding. DVD deficiency did not affect the acquisition or retention of cued fear conditioning, nor did it affect the expression of latent inhibition using a fear conditioning paradigm. DVD-deficient mice exhibited no major impairments in any of the cognitive domains tested. However, impairments in perseverative responding in DVD-deficient mice may indicate that these animals have specific alterations in systems governing compulsive or reward-seeking behaviour.

Zinc: physiology, deficiency, and parenteral nutrition.

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Livingstone, Callum

2015-06-01

The essential trace element zinc (Zn) has a large number of physiologic roles, in particular being required for growth and functioning of the immune system. Adaptive mechanisms enable the body to maintain normal total body Zn status over a wide range of intakes, but deficiency can occur because of reduced absorption or increased gastrointestinal losses. Deficiency impairs physiologic processes, leading to clinical consequences that include failure to thrive, skin rash, and impaired wound healing. Mild deficiency that is not clinically overt may still cause nonspecific consequences, such as susceptibility to infection and poor growth. The plasma Zn concentration has poor sensitivity and specificity as a test of deficiency. Consequently, diagnosis of deficiency requires a combination of clinical assessment and biochemical tests. Patients receiving parenteral nutrition (PN) are susceptible to Zn deficiency and its consequences. Nutrition support teams should have a strategy for assessing Zn status and optimizing this by appropriate supplementation. Nutrition guidelines recommend generous Zn provision from the start of PN. This review covers the physiology of Zn, the consequences of its deficiency, and the assessment of its status, before discussing its role in PN. © 2015 American Society for Parenteral and Enteral Nutrition.

Kernicterus by glucose-6-phosphate dehydrogenase deficiency: a case report and review of the literature

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Cossio de Gurrola Gladys

2008-05-01

Full Text Available Abstract Introduction Glucose-6-phosphate dehydrogenase deficiency is an X-linked recessive disease that causes acute or chronic hemolytic anemia and potentially leads to severe jaundice in response to oxidative agents. This deficiency is the most common human innate error of metabolism, affecting more than 400 million people worldwide. Case presentation Here, we present the first documented case of kernicterus in Panama, in a glucose-6-phosphate dehydrogenase-deficient newborn clothed in naphthalene-impregnated garments, resulting in reduced psychomotor development, neurosensory hypoacousia, absence of speech and poor reflex of the pupil to light. Conclusion Mutational analysis revealed the glucose-6-phosphate dehydrogenase Mediterranean polymorphic variant, which explained the development of kernicterus after exposition of naphthalene. As the use of naphthalene in stored clothes is a common practice, glucose-6-phosphate dehydrogenase testing in neonatal screening could prevent severe clinical consequences.

Glucose-6-Phosphate Dehydrogenase Deficiency and Haemoglobin Drop after Sulphadoxine-Pyrimethamine Use for Intermittent Preventive Treatment of Malaria during Pregnancy in Ghana - A Cohort Study.

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Ruth Owusu

Full Text Available Sulphadoxine-Pyrimethamine (SP is still the only recommended antimalarial for use in intermittent preventive treatment of malaria during pregnancy (IPTp in some malaria endemic countries including Ghana. SP has the potential to cause acute haemolysis in G6PD deficient people resulting in significant haemoglobin (Hb drop but there is limited data on post SP-IPTp Hb drop. This study determined the difference, if any in proportions of women with significant acute haemoglobin drop between G6PD normal, partial deficient and full deficient women after SP-IPTp.Prospectively, 1518 pregnant women who received SP for IPTp as part of their normal antenatal care were enrolled. Their G6PD status were determined at enrollment followed by assessments on days 3, 7,14 and 28 to document any adverse effects and changes in post-IPTp haemoglobin (Hb levels. The three groups were comparable at baseline except for their mean Hb (10.3 g/dL for G6PD normal, 10.8 g/dL for G6PD partial deficient and 10.8 g/dL for G6PD full defect women.The prevalence of G6PD full defect was 2.3% and 17.0% for G6PD partial defect. There was no difference in the proportions with fractional Hb drop ≥ 20% as compared to their baseline value post SP-IPTp among the 3 groups on days 3, 7, 14. The G6PD full defect group had the highest median fractional drop at day 7. There was a weak negative correlation between G6PD activity and fractional Hb drop. There was no statistical difference between the three groups in the proportions of those who started the study with Hb ≥ 8g/dl whose Hb level subsequently fell below 8g/dl post-SP IPTp. No study participant required transfusion or hospitalization for severe anaemia.There was no significant difference between G6PD normal and deficient women in proportions with significant acute haemoglobin drop post SP-IPTp and lower G6PD enzyme activity was not strongly associated with significant acute drug-induced haemoglobin drop post SP-IPTp but a larger

Hepatitis B immunisation in persons not previously exposed to hepatitis B or with unknown exposure status

DEFF Research Database (Denmark)

Mathew, Joseph L; El Dib, Regina; Mathew, Preethy J

2008-01-01

The benefits and harms of hepatitis B vaccination in persons not previously exposed to hepatitis B infection or with unknown exposure status have not been established.......The benefits and harms of hepatitis B vaccination in persons not previously exposed to hepatitis B infection or with unknown exposure status have not been established....

Recombinant human G6PD for quality control and quality assurance of novel point-of-care diagnostics for G6PD deficiency.

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Maria Kahn

Full Text Available A large gap for the support of point-of-care testing is the availability of reagents to support quality control (QC of diagnostic assays along the supply chain from the manufacturer to the end user. While reagents and systems exist to support QC of laboratory screening tests for glucose-6-phosphate dehydrogenase (G6PD deficiency, they are not configured appropriately to support point-of-care testing. The feasibility of using lyophilized recombinant human G6PD as a QC reagent in novel point-of-care tests for G6PD deficiency is demonstrated.Human recombinant G6PD (r-G6PD was expressed in Escherichia coli and purified. Aliquots were stored at -80°C. Prior to lyophilization, aliquots were thawed, and three concentrations of r-G6PD (representing normal, intermediate, and deficient clinical G6PD levels were prepared and mixed with a protective formulation, which protects the enzyme activity against degradation from denaturation during the lyophilization process. Following lyophilization, individual single-use tubes of lyophilized r-G6PD were placed in individual packs with desiccants and stored at five temperatures for one year. An enzyme assay for G6PD activity was used to ascertain the stability of r-G6PD activity while stored at different temperatures.Lyophilized r-G6PD is stable and can be used as a control indicator. Results presented here show that G6PD activity is stable for at least 365 days when stored at -80°C, 4°C, 30°C, and 45°C. When stored at 55°C, enzyme activity was found to be stable only through day 28.Lyophilized r-G6PD enzyme is stable and can be used as a control for point-of-care tests for G6PD deficiency.

Glucose-6-Phosphate Dehydrogenase Deficiency and Adrenal Hemorrhage in a Filipino Neonate with Hyperbilirubinemia

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Akira Ohishi

2013-05-01

Full Text Available We report on a Filipino neonate with early onset and prolonged hyperbilirubinemia who was delivered by a vacuum extraction due to a prolonged labor. Subsequent studies revealed adrenal hemorrhage and glucose-6-phosphate dehydrogenase (G6PD deficiency. It is likely that asphyxia and resultant hypoxia underlie the occurrence of adrenal hemorrhage and the clinical manifestation of G6PD deficiency and that the presence of the two events explains the early onset and prolonged hyperbilirubinemia of this neonate. Our results represent the importance of examining possible underlying factors for the development of severe, early onset, or prolonged hyperbilirubinemia.

[Study on the iodine nutrition and iodine deficiency disorders status in pasturing areas of Tibet-a non-epidemic area of iodine deficiency disorders in serious iodine deficiency district].

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DU, Dan; Li, Su-Mei; Li, Xiu-Wei; Wang, Hai-Yan; Li, Shu-Hua; Nima, Cangjue; Danzeng, Sangbu; Zhuang, Guang-Xiu

2010-08-01

To explore the status of iodine nutrition and iodine deficiency disorders in the pasturing areas and agricultural regions in Tibet. 30 families were selected respectively in pastoral Dangxiong county and agricultural Qushui county of Lasa. Drinking water and edible salt were collected for testing the iodine contents. In each type of the following populations including children aged 8 - 10, women of child-bearing age and male adults, 50 subjects were randomly sampled to examine their urinary iodine contents. Among them, 50 children and 50 women were randomly selected for goiter examination by palpation. Water iodine content was less than 2 µg/L, both in pasturing area and in agricultural areas. There was no iodized salt used in the families of pasturing areas, while 90% people consumed iodized salt in agricultural areas. The median of urinary iodine in pasturing area was 50.2 µg/L, significantly lower than that of agricultural area (193.2 µg/L). However, the goiter rate of children and women in pasturing area was significantly lower than that in agricultural area. Although iodine intake of populations in pasturing area of Tibet was severely deficient, there was no epidemic of Iodine Deficiency Disorders. This phenomenon noticed by the researchers deserved further investigation.

Genetic analysis of fructose-1,6-bisphosphatase (FBPase) deficiency in nine consanguineous Pakistani families.

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Ijaz, Sadaqat; Zahoor, Muhammad Yasir; Imran, Muhammad; Ramzan, Khushnooda; Bhinder, Munir Ahmad; Shakeel, Hussain; Iqbal, Muhammad; Aslam, Asim; Shehzad, Wasim; Cheema, Huma Arshad; Rehman, Habib

2017-10-26

Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare inherited metabolic disorder characterized by recurrent episodes of hypoglycemia, ketosis and lactic acidosis. FBPase is encoded by FBP1 gene and catalyzes the hydrolysis of fructose-1,6-bisphosphate to fructose-6-phosphate in the last step of gluconeogenesis. We report here FBP1 mutations in nine consanguineous Pakistani families affected with FBPase deficiency. Nine families having one or two individuals affected with FBPase deficiency were enrolled over a period of 3 years. All FBP1 exonic regions including splicing sites were PCR-amplified and sequenced bidirectionally. Familial cosegregation of mutations with disease was confirmed by direct sequencing and PCR-RFLP analysis. Three different FBP1 mutations were identified. Each of two previously reported mutations (c.472C>T (p.Arg158Trp) and c.841G>A (p.Glu281Lys)) was carried by four different families. The ninth family carried a novel 4-bp deletion (c.609_612delAAAA), which is predicted to result in frameshift (p.Lys204Argfs*72) and loss of FBPase function. The novel variant was not detected in any of 120 chromosomes from normal ethnically matched individuals. FBPase deficiency is often fatal in the infancy and early childhood. Early diagnosis and prompt treatment is therefore crucial to preventing early mortality. We recommend the use of c.472C>T and c.841G>A mutations as first choice genetic markers for molecular diagnosis of FBPase deficiency in Pakistan.

Matrix metalloproteinase-9 predicts pulmonary status declines in α1-antitrypsin deficiency

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Rames Alexis

2011-03-01

Full Text Available Abstract Background Matrix metalloproteinase-9 (MMP-9 may be important in the progression of emphysema, but there have been few longitudinal clinical studies of MMP-9 including pulmonary status and COPD exacerbation outcomes. Methods We utilized data from the placebo arm (n = 126 of a clinical trial of patients with alpha1-antitrypsin deficiency (AATD and emphysema to examine the links between plasma MMP-9 levels, pulmonary status, and COPD exacerbations over a one year observation period. Pulmonary function, computed tomography lung density, incremental shuttle walk test (ISWT, and COPD exacerbations were assessed at regular intervals over 12 months. Prospective analyses used generalized estimating equations to incorporate repeated longitudinal measurements of MMP-9 and all endpoints, controlling for age, gender, race-ethnicity, leukocyte count, and tobacco history. A secondary analysis also incorporated highly-sensitive C-reactive protein levels in predictive models. Results At baseline, higher plasma MMP-9 levels were cross-sectionally associated with lower FEV1 (p = 0.03, FVC (p Conclusions Increased plasma MMP-9 levels generally predicted pulmonary status declines, including worsening transfer factor and lung density as well as greater COPD exacerbations in AATD-associated emphysema.

A study of clinical profile of vitamin B 12 deficiency with special reference to dermatologic manifestations in a Tertiary Care Hospital in sub-Himalayan Bengal

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Kaushik Sen

2015-01-01

Full Text Available Background: Vitamin B 12 deficiency is thought to be uncommon in the eastern parts of India including Bengal and the eastern states as compared to the northern and southern parts of India. The importance of cutaneous features in relation to vitamin B 12 deficiency is not well described in literature. Aim: To know the clinical profile of vitamin B 12 deficiency in this region and to find out if there is any relationship between dermatologic manifestations with vitamin B 12 deficiency. Materials and Methods: All symptomatic patients of anemia requiring blood transfusions who had either raised mean corpuscular volume (MCV or bicytopenia/pancytopenia on complete blood count or were symptomatic in the form of skin hyperpigmentation were screened for vitamin B 12 deficiency. Results: Twenty-five patients were tested for vitamin B 12 deficiency. Of them 19 patients were found to be having vitamin B 12 deficiency. Conclusions: Vitamin B 12 deficiency is not uncommon in the eastern parts of India, contrasting the previous thoughts that it was uncommon in this area, though larger studies are required to know it better. This study included only those requiring blood transfusions, thus a much higher prevalence is expected in this area. Patients with vitamin B 12 deficiency do present with severe anemia requiring blood transfusions and often have skin hyperpigmentation.

Breastfeeding woman are at higher risk of vitamin D deficiency than non-breastfeeding women - insights from the German VitaMinFemin study.

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Gellert, Sandra; Ströhle, Alexander; Hahn, Andreas

2016-01-01

Despite increased awareness of the adverse health effects of vitamin D deficiency, only a few studies have evaluated the vitamin D status (25-hydroxyvitamin D [25(OHD)]) of breastfeeding women and up to now, no information exits for German breastfeeding women. Therefore, the aim of study was to determine the vitamin D status of breastfeeding women compared to non-pregnant and non-breastfeeding (NPNB) women. This cross-sectional study investigated 124 breastfeeding women and 124 age and season matched NPNB women from the German "Vitamin and mineral status among German women" study. The study participants were recruited from April 2013 to March 2015 and did not take vitamin D supplements. Serum 25(OH)D was analyzed by chemiluminescent immunoassay. Vitamin D deficiency (risk of vitamin D deficiency was higher in the winter and spring months (OR: 2.6, 95% CI 1.1, 6.3) and increased with lower longitude per one unit (OR 0.7, 95% CI 0.6, 0.9). Breastfeeding women in Germany had a higher risk of deficient vitamin D levels than NPNB women. In further studies, the optimal vitamin D status for breastfeeding women should be investigated and also the required vitamin D doses to ensure this vitamin D status. German Clinical Trial Register (identification number: DRKS00004789).

Sintomas visuais de deficiência de macronutrientes e de boro em abacaxizeiro 'imperial' Visual symptons of macronutrients and boron deficiency in 'imperial' pineapple

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Maria José Mota Ramos

2009-03-01

Full Text Available O objetivo deste trabalho foi caracterizar os sintomas visuais de deficiências de macronutrientes e de boro no abacaxizeiro 'Imperial', e associá-los à diagnose foliar. Os tratamentos: Completo, - N, - P, - K, -Ca, - Mg, - S e - B foram aplicados como soluções nutritivas, em vasos plásticos com 14 kg de areia de praia purificada e uma muda de abacaxi, como unidade experimental. O delineamento foi em blocos casualizados completos, com seis repetições. Os sintomas visuais de deficiência nutricional foram fotografados e descritos durante todo o processo de crescimento e desenvolvimento das plantas. Avaliaram-se, também, as concentrações foliares de N, P, K, Ca, Mg, S e B na folha 'D', aos cinco, sete, nove e 12 meses após o plantio. A deficiência de N causou amarelecimento das folhas da planta e da coroa dos frutos e descoramento da polpa do fruto; a de P, folhas novas vermelho-arroxeadas e frutos com a casca avermelhada; a de K, necrose do ápice das folhas mais velhas e escurecimento da polpa do fruto; a de Mg, necrose na base das folhas da coroa do fruto, e na deficiência de B, frutos com cortiça e rachadura nos frutilhos e entre eles. Apesar dos baixos teores foliares de S e de Ca, na época da colheita dos frutos, não foram observados sintomas visuais de deficiência nos frutos. Os teores foliares no início dos sintomas de deficiência e na época da colheita dos frutos foram, respectivamente: N = 8,7 e 6,8; P = 0,70 e 0,32; K = 11,6 e 3,2; Mg = 0,73 e 0,54 g kg-1, e B = 5,8 e 5,5 mg kg-1.The objective of this study was to characterize the visual symptoms of macronutrients and boron deficiencies in the pineapple 'Imperial', and involve them in the foliar diagnosis. The full treatment, - N, - P - K, - Ca, - Mg, - and S - B was applied as nutrient solutions in plastic pots with 14 kg of purified sand beach and a seedling of pineapple, as an experimental unit . The design was a randomized complete block with six replicates. The

Marginal Biotin Deficiency Is Teratogenic in ICR Mice1,2

OpenAIRE

Mock, Donald M.; Mock, Nell I.; Stewart, Christopher W.; LaBorde, James B.; Hansen, Deborah K.

2003-01-01

The incidence of marginal biotin deficiency in normal human gestation is approximately one in three. In ICR mice, maternal biotin deficiency results in cleft palate, micrognathia, microglossia and limb hypoplasia. However, the relationships among the severity of maternal biotin deficiency, fetal biotin status and malformations have not been reported. This study utilized validated indices of biotin status to investigate the relationships among maternal biotin status, fetal biotin status and th...

Increased numbers of spleen colony forming units in B cell deficient CBA/N mice

International Nuclear Information System (INIS)

Wiktor-Jedrzejczak, W.; Krupienicz, A.; Scher, I.

1986-01-01

The formation of exogenous and endogenous spleen colonies was studied in immune-defective mice expressing the CBA/N X-linked xid gene. Bone marrow and spleen cells of immune deficient mice formed increased numbers of eight-day exogenous spleen colonies when transferred to either normal or B cell deficient lethally irradiated recipients. Moreover, defective mice showed increased formation of five-day endogenous spleen colonies (derived from transient endogenous colony forming units; T-CFU) and of ten-day endogenous spleen colonies (derived from CFU-S). Among the possible mechanisms responsible for the observed effects, the most probable appears the one in which decreased numbers of B cell precursors stimulate stem cell pools through a feedback mechanism. (orig.) [de

Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines for rasburicase therapy in the context of G6PD deficiency genotype.

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Relling, M V; McDonagh, E M; Chang, T; Caudle, K E; McLeod, H L; Haidar, C E; Klein, T; Luzzatto, L

2014-08-01

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is associated with development of acute hemolytic anemia (AHA) induced by a number of drugs. We provide guidance as to which G6PD genotypes are associated with G6PD deficiency in males and females. Rasburicase is contraindicated in G6PD-deficient patients due to the risk of AHA and possibly methemoglobinemia. Unless preemptive genotyping has established a positive diagnosis of G6PD deficiency, quantitative enzyme assay remains the mainstay of screening prior to rasburicase use. The purpose of this article is to help interpret the results of clinical G6PD genotype tests so that they can guide the use of rasburicase. Detailed guidelines on other aspects of the use of rasburicase, including analyses of cost-effectiveness, are beyond the scope of this document. Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines are published and updated periodically on https://www.pharmgkb.org/page/cpic to reflect new developments in the field.

The role of ZIP transporters and group F bZIP transcription factors in the Zn-deficiency response of wheat (Triticum aestivum).

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Evens, Nicholas P; Buchner, Peter; Williams, Lorraine E; Hawkesford, Malcolm J

2017-10-01

Understanding the molecular basis of zinc (Zn) uptake and transport in staple cereal crops is critical for improving both Zn content and tolerance to low-Zn soils. This study demonstrates the importance of group F bZIP transcription factors and ZIP transporters in responses to Zn deficiency in wheat (Triticum aestivum). Seven group F TabZIP genes and 14 ZIPs with homeologs were identified in hexaploid wheat. Promoter analysis revealed the presence of Zn-deficiency-response elements (ZDREs) in a number of the ZIPs. Functional complementation of the zrt1/zrt2 yeast mutant by TaZIP3, -6, -7, -9 and -13 supported an ability to transport Zn. Group F TabZIPs contain the group-defining cysteine-histidine-rich motifs, which are the predicted binding site of Zn 2+ in the Zn-deficiency response. Conservation of these motifs varied between the TabZIPs suggesting that individual TabZIPs may have specific roles in the wheat Zn-homeostatic network. Increased expression in response to low Zn levels was observed for several of the wheat ZIPs and bZIPs; this varied temporally and spatially suggesting specific functions in the response mechanism. The ability of the group F TabZIPs to bind to specific ZDREs in the promoters of TaZIPs indicates a conserved mechanism in monocots and dicots in responding to Zn deficiency. In support of this, TabZIPF1-7DL and TabZIPF4-7AL afforded a strong level of rescue to the Arabidopsis hypersensitive bzip19 bzip23 double mutant under Zn deficiency. These results provide a greater understanding of Zn-homeostatic mechanisms in wheat, demonstrating an expanded repertoire of group F bZIP transcription factors, adding to the complexity of Zn homeostasis. © 2017 The Authors The Plant Journal published by John Wiley & Sons Ltd and Society for Experimental Biology.

Vitamin B2, vitamin B12 and total homocysteine status in children and their associations with dietary intake of B-vitamins from different food groups: the Healthy Growth Study.

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Manios, Yannis; Moschonis, George; Dekkers, Renske; Mavrogianni, Christina; Grammatikaki, Eva; van den Heuvel, Ellen

2017-02-01

To examine the associations between the dietary intakes of certain B-vitamins from different food sources with the relevant plasma status indices in children. A representative subsample of 600 children aged 9-13 years from the Healthy Growth Study was selected. Dietary intakes of vitamins B 2 , B 12 , B 6 and folate derived from different food sources were estimated. Plasma levels of vitamin B 2 (or riboflavin), methylmalonic acid (MMA) and total homocysteine (tHcy) were also measured. Plasma concentrations of vitamin B 2 below 3 μg/L were found in 22.8 % of the children. Children in the lower quartile of dietary vitamin B 2 intake were found to have the lowest plasma vitamin B 2 levels compared to children in the upper three quartiles (5.06 ± 7.63 vs. 6.48 ± 7.88, 6.34 ± 7.63 and 6.05 ± 4.94 μg/L respectively; P = 0.003). Regarding vitamin B 12 children in the lower quartile of dietary intake had higher mean plasma tHcy levels compared to children in the upper two quartiles, respectively (6.00 ± 1.79 vs. 5.41 ± 1.43 and 5.46 ± 1.64 μmol/L; P = 0.012). Positive linear associations were observed between plasma vitamin B 2 levels and dietary vitamin B 2 derived from milk and fruits (β = 0.133; P = 0.001 and β = 0.086; P = 0.037). Additionally, nonlinear associations were also observed between plasma vitamin B 2 levels and vitamin B 2 derived from red meat, as well as between tHcy levels and vitamins B 12 and B 6 derived from milk; vitamins B 12 , B 6 and folate derived from cereal products and folate derived from fruits. A considerably high prevalence of poor plasma vitamin B 2 status was observed in children. The intake of milk, fruits and cereals was associated with more favorable tHcy levels, while the intake of milk and fruits with more favorable plasma B2 levels. However, these findings need to be further confirmed from controlled dietary intervention studies examining the modulation of biomarkers of B-vitamins.

Natural history-driven, plant-mediated RNAi-based study reveals CYP6B46's role in a nicotine-mediated antipredator herbivore defense.

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Kumar, Pavan; Pandit, Sagar S; Steppuhn, Anke; Baldwin, Ian T

2014-01-28

Manduca sexta (Ms) larvae are known to efficiently excrete ingested nicotine when feeding on their nicotine-producing native hostplant, Nicotiana attenuata. Here we describe how ingested nicotine is co-opted for larval defense by a unique mechanism. Plant-mediated RNAi was used to silence a midgut-expressed, nicotine-induced cytochrome P450 6B46 (CYP6B46) in larvae consuming transgenic N. attenuata plants producing MsCYP6B46 dsRNA. These and transgenic nicotine-deficient plants were planted into native habitats to study the phenotypes of larvae feeding on these plants and the behavior of their predators. The attack-behavior of a native wolf spider (Camptocosa parallela), a major nocturnal predator, provided the key to understanding MsCYP6B46's function: spiders clearly preferred CYP6B46-silenced larvae, just as they had preferred larvae fed nicotine-deficient plants. MsCYP6B46 redirects a small amount (0.65%) of ingested nicotine from the midgut into hemolymph, from which nicotine is exhaled through the spiracles as an antispider signal. CYP6B46-silenced larvae were more susceptible to spider-attack because they exhaled less nicotine because of lower hemolymph nicotine concentrations. CYP6B46-silenced larvae were impaired in distributing ingested nicotine from midgut to hemolymph, but not in the clearing of hemolymph nicotine or in the exhalation of nicotine from hemolymph. MsCYP6B46 could be a component of a previously hypothesized pump that converts nicotine to a short-lived, transportable, metabolite. Other predators, big-eyed bugs, and antlion larvae were insensitive to this defense. Thus, chemical defenses, too toxic to sequester, can be repurposed for defensive functions through respiration as a form of defensive halitosis, and predators can assist the functional elucidation of herbivore genes.

Prevalence of G6PD deficiency in selected populations from two previously high malaria endemic areas of Sri Lanka.

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Sharmini Gunawardena

Full Text Available Glucose-6-Phosphate Dehydrogenase (G6PD enzyme deficiency is known to offer protection against malaria and an increased selection of mutant genes in malaria endemic regions is expected. However, anti-malarial drugs such as primaquine can cause haemolytic anaemia in persons with G6PD deficiency. We studied the extent of G6PD deficiency in selected persons attending Teaching Hospitals of Anuradhapura and Kurunegala, two previously high malaria endemic districts in Sri Lanka. A total of 2059 filter-paper blood spots collected between November 2013 and June 2014 were analysed for phenotypic G6PD deficiency using the modified WST-8/1-methoxy PMS method. Each assay was conducted with a set of controls and the colour development assessed visually as well as with a microplate reader at OD450-630nm. Overall, 142/1018 (13.95% and 83/1041 (7.97% were G6PD deficient in Anuradhapura and Kurunegala districts respectively. The G6PD prevalence was significantly greater in Anuradhapura when compared to Kurunegala (P0.05. Severe deficiency (<10% normal was seen among 28/1018 (2.75% in Anuradhapura (7 males; 21 females and 17/1041 (1.63% in Kurunegala (7 males; 10 females. Enzyme activity between 10-30% was observed among 114/1018 (11.20%; 28 males; 86 females in Anuradhapura while it was 66/1041 (6.34%; 18 males; 48 females in Kurunegala. Screening and educational programmes for G6PD deficiency are warranted in these high risk areas irrespective of gender for the prevention of disease states related to this condition.

[The vitamin status of pregnant women in Moscow: effect of multivitamin-mineral supplements].

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Beketova, N A; Sokolnikov, A A; Kodentsova, V M; Pereverzeva, O G; Vrzhesinskaya, O A; Kosheleva, O V; Gmoshinskaya, M V

2016-01-01

Examination of the vitamin status of 102 pregnant women (19-41 years old) from Moscow (gestational age 6-38 weeks) in winter and spring 2015 has been conducted. The lack of vitamin B2 (blood serum level of riboflavin vitamin B6 (vitamin A (vitamins C (>0.4 mg/dL) and B12 (>150 ng/L). The frequency of the combined deficiency of two vitamins was 29%, of three vitamins - 21%, four - 10%, five - 5%. Only 8% of women were sufficiently supplied with all 8 studied vitamins and β-carotene. A positive correlation (pvitamin E and gestation term occurred. β-Carotene blood serum level raised with increasing gestation term in women receiving multivitamin-mineral supplements (VMS) and directly correlated (pvitamin E serum level. In 63 women who were not taking VMS, blood serum level of vitamins A, D, C, B2, B6, B12, folic acid and β-carotene was lower, and the frequency of inadequate supply, on the contrary, was significantly higher, compared to 39 women receiving VMS. Blood serum concentration of vitamins C, A, D, B6 and folic acid in women who were not taking VMS was significantly reduced (pvitamin blood serum level was maintained at a constant level. The data obtained demonstrate advisability of VMS intake during pregnancy to maintain vitamin status of pregnant women at a satisfactory level and to reduce the risk of birth defects in infants.

Iron deficiency and hematinic deficiencies in atrial fibrillation: A new insight into comorbidities.

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Keskin, Muhammed; Ural, Dilek; Altay, Servet; Argan, Onur; Börklü, Edibe Betül; Kozan, Ömer

2018-03-01

Iron deficiency (ID) is the most common nutritional deficiency, and iron metabolism becomes further deteriorated in the presence of certain conditions, such as heart failure (HF). Atrial fibrillation (AF) has many similarities to HF, including a chronic inflammatory pathophysiology; however, the prevalence of ID and other hematinic deficiencies in AF patients have not been determined. In this study, the prevalence of iron (serum ferritin <100 µg/L or ferritin 100-299 µg/L with transferrin saturation <20%), vitamin B12 (<200 pg/mL), and folate deficiency (<4.0 ng/mL) was evaluated in 101 patients with non-valvular AF with preserved left ventricular ejection fraction and no signs of HF, and the results were compared with 35 age- and gender-matched controls. Anemia was detected in 26% of the patients. A total of 48 (47.6%) patients had ID, 10 (9.9%) had a vitamin B12 deficiency, and 13 (12.9%) had a folate deficiency. The prevalence of ID was similar in the controls and the paroxysmal AF patients, but increased gradually in persistent and permanent AF. Univariate logistic regression analysis demonstrated that permanent vs. paroxysmal AF [Odds ratio (OR): 2.17; 95% confidence interval (CI): 0.82-5.69; p=0.011], high sensitive C-reactive protein (OR: 1.47; 95% CI: 0.93-2.36; p=0.019), N-terminal pro b-type natriuretic peptide (OR: 1.24; 95% CI: 0.96-1.71; p=0.034), and white blood cell count (OR: 1.21; 95% CI: 0.95-1.58; p=0.041) were associated with ID. In multivariable analysis, permanent AF remained as an independent clinical associate of ID (OR: 4.30; 95% CI: 0.83-12.07; p=0.039). ID is common in permanent AF, as in HF. Inflammation and neurohormonal activation seem to contribute to its development.

Nutritional status of the cauliflower cultivar 'verona' grown with omission of out added macronutrients.

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Bianco, Matheus Saraiva; Cecílio Filho, Arthur Bernardes; de Carvalho, Leonardo Bianco

2015-01-01

Knowledge of plant nutritional status allows an understanding of the physiological responses of plants to crop fertilization. A hydroponic experiment evaluated the symptoms of macronutrient deficiency in cauliflower 'Verona' and determined: a) the macronutrient contents of foliar tissues when visual symptoms were observed, b) macronutrients content of foliar and inflorescence tissues at harvest. The effect of nutrient deficiency on inflorescence mass was also evaluated. Nitrogen deficiency caused chlorosis followed by purple color in the old leaves, while P deficiency caused only chlorosis in old leaves. Chlorosis at the edge of old leaves progressing to the center of the leaves was observed with the omission of K, and after was observed necrosis in the chlorotic areas. Ca deficiency caused tip burn in new leaves, while Mg deficiency caused internerval chlorosis in old leaves. The omission of each macronutrient reduced inflorescence dry matter. This deleterious effect was larger for N, P, and K deficiencies, reducing inflorescence dry matter by 87, 49, and 42%, respectively. When the nutrient solutions without N, P, K, Ca, or Mg were supplied to cauliflower plants, the macronutrient contents at harvest were 8.8, 0.6, 3.5, 13.0, and 0.8 g kg-1 in the foliar tissues and 27.3, 2.2, 21.6, 1.1, and 0.7 g kg-1 in the inflorescence tissues, respectively.

Prevalence of glucose-6-phosphate dehydrogenase deficiency and diagnostic challenges in 1500 immigrants in Denmark examined for haemoglobinopathies

DEFF Research Database (Denmark)

Warny, Marie; Klausen, Tobias Wirenfeldt; Petersen, Jesper

2015-01-01

Similar to the thalassaemia syndromes, glucose-6-phosphate dehydrogenase (G6PD) deficiency is highly prevalent in areas historically exposed to malaria. In the present study, we used quantitative and molecular methods to determine the prevalence of G6PD deficiency in a population of 1508 immigran...

[Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou].

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Tang, F; Huang, Y L; Jiang, X; Jia, X F; Li, B; Feng, Y; Chen, Q Y; Tang, C F

2018-05-02

Objective: To reveal the molecular epidemiologic characteristics of glucose-6-phosphate dehydrogenase (G6PD) gene and to evaluate based on the genetic analysis the newborn screening program performance and enzymatic diagnosis of G6PD deficiency in Guangzhou. Methods: G6PD enzyme activities were measured by quantitative fluorescence assay in dry blood spots of 16 319 newborns(8 725 males, 7 594 females) 3-7 days after birth in Guangzhou Newborn Center. They were born in Guangzhou form Oct. 1 to 20, 2016. The cutoff value of G6PD was less than 2.6 U/g Hb in dry blood spots. G6PD deficiency was diagnosed when G6PDblood cells. Genetic analysis of G6PD gene was performed on the dry blood spot samples of 823 newborns (including positive 346, negative 477)with various levels of G6PD enzyme activities through fluorescence PCR melting curve analysis(FMCA) to detect 15 kinds of mutations reported to be common among Chinese.G6PD gene Sanger sequency was performed in seven highly suspicious patients with negative results by FMCA. Results: (1) Using the cutoff value of G6PDT, c.551C>T, c.835A>T hemizygote were found in 3 male's samples, respectively. (3) The estimated prevalence of harboring mutation was 6.0% in males and 13.5% in females according to rates of mutation in samples with various levels of G6PD enzyme activities. Six common mutations were c.1388G>A、c.1376G>T, c.95A> G, c.871G>A, c.1024C>T, c.392G>T, accounting for 95.5% of detected alleles .(4) based on results of G6PD gene analysis, the newborn scereening of G6PD deficiency with cutoff value G6PDblood cells were 95.5%, 97.2%, respectively. Conclusions: The prevalence of G6PD deficiency in males was 6.0% in Guangzhou. Six mutations c.1388G>A, c.1376G>T, c.95A>G, c.871G>A, c.1024C>T, c.392G>T accounted for 95.5%. The cutoff value of G6PD<2.6 U/g Hb innewborn screening program and the criteria of biochemical diagnosis could accurately identify G6PD deficiency . Combined with biochemical and molecular analysis will

Glucose-6-phosphate dehydrogenase deficiency and Alzheimer's disease: Partners in crime? The hypothesis.

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Ulusu, N Nuray

2015-08-01

Alzheimer's disease is a multifaceted brain disorder which involves various coupled irreversible, progressive biochemical reactions that significantly reduce quality of life as well as the actual life expectancy. Aging, genetic predispositions, head trauma, diabetes, cardiovascular disease, deficiencies in insulin signaling, dysfunction of mitochondria-associated membranes, cerebrovascular changes, high cholesterol level, increased oxidative stress and free radical formation, DNA damage, disturbed energy metabolism, and synaptic dysfunction, high blood pressure, obesity, dietary habits, exercise, social engagement, and mental stress are noted among the risk factors of this disease. In this hypothesis review I would like to draw the attention on glucose-6-phosphate dehydrogenase deficiency and its relationship with Alzheimer's disease. This enzymopathy is the most common human congenital defect of metabolism and defined by decrease in NADPH+H(+) and reduced form of glutathione concentration and that might in turn, amplify oxidative stress due to essentiality of the enzyme. This most common enzymopathy may manifest itself in severe forms, however most of the individuals with this deficiency are not essentially symptomatic. To understand the sporadic Alzheimer's disease, the writer of this paper thinks that, looking into a crystal ball might not yield much of a benefit but glucose-6-phosphate dehydrogenase deficiency could effortlessly give some clues. Copyright © 2015 Elsevier Ltd. All rights reserved.

Prevalence of Vitamin B12 and folic acid deficiency in HIV-positive patients and its association with neuropsychiatric symptoms and immunological response.

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Adhikari, Prabha M R; Chowta, Mukta N; Ramapuram, John T; Rao, Satish; Udupa, Karthik; Acharya, Sahana Devdas

2016-01-01

Deficiency of micronutrients is prevalent even before the development of symptoms of HIV disease and is associated with accelerated HIV disease progression. This study evaluates the prevalence of folate and Vitamin B 12 deficiency in HIV-positive patients with or without tuberculosis (TB) and its association with neuropsychiatric symptoms and immunological response. Cross-sectional, observational study in an outpatient setting. Four groups of HIV-positive patients with TB (Group I), HIV-positive patients with neuropsychiatric symptoms (Group II), HIV-positive patients without neuropsychiatric symptoms or TB (Group III), and HIV-negative controls with neuropsychiatric symptoms (Group IV). Vitamin B 12 and folate estimation was done using carbonyl metallo-immunoassay method. ANOVA, Kruskal-Wallis and Mann-Whitney, Pearson's correlation. The prevalence of folic acid deficiency was 27.1% in the Group I, 31.9% in the Group II, 23.4% in the Group III, and 32% in the Group IV being higher in patients with neuropsychiatric symptoms in both HIV and non-HIV patients. The prevalence of Vitamin B 12 deficiency was 18.8% in Group I, 9.1% in Group II, 4.8% in Group III, and 16.7% in Group IV. The patients with folate deficiency had more severe depression and anxiety. Nearly, 30% of the HIV patients had a folic acid deficiency, and about 10% of the HIV patients had Vitamin B 12 deficiency. The folate deficiency was highest among neuropsychiatric patients with or without HIV infection and Vitamin B 12 deficiency was higher among HIV patients with TB.

Microstructural characterization of LaB6-ZrB2 eutectic composites

International Nuclear Information System (INIS)

Wang Shengchang; Wei, W.J.; Zhang Litong

2003-01-01

Detail microstructure of LaB 6 -ZrB 2 composites has been characterized by TEM and HRTEM. The directionally solidified ZrB 2 fibers in LaB 6 matrix near LaB 6 -ZrB 2 eutectics present at least three growing relationship systems. In addition to previous report of [001]LaB 6 / [0001]ZrB 2 relationship, [0 anti 11]LaB 6 / [0001]ZrB 2 and [1 anti 20]LaB 6 / [0001]ZrB 2 . were identified. Different with [001]LaB 6 / [0001]ZrB 2 system, the interfaces of [0 anti 11]LaB 6 / [0001]ZrB 2 and [1 anti 20]LaB 6 / [0001]ZrB 2 . show non-coherent and clean interfaces. There is neither glassy phase nor reaction products found at the interfaces (orig.)

Iron deficiency and anemia: a common problem in female elite soccer players.

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Landahl, Göran; Adolfsson, Peter; Börjesson, Mats; Mannheimer, Clas; Rödjer, Stig

2005-12-01

The objective of the study was to determine the prevalence of iron deficiency and iron deficiency anemia among elite women soccer players. Hemoglobin, serum iron, serum total iron binding capacity, and ferritin were determined in 28 female soccer players called up for the national team. Of the investigated female soccer players, 57% had iron deficiency and 29% iron deficiency anemia 6 months before the FIFA Women's World Cup. It is concluded that iron deficiency and iron deficiency anemia is common in female soccer players at the top international level. Some might suffer from relative anemia and measurement of hemoglobin alone is not sufficient to reveal relative anemia. Regular monitoring of hemoglobin concentration and iron status is necessary to institute iron supplementation when indicated.

26 CFR 1.963-6 - Deficiency distribution.

Science.gov (United States)

2010-04-01

... paragraph. (e) Computation of interest on deficiencies in tax. If a United States shareholder, for the... United States shareholder may be relieved from the payment of a deficiency in tax for any taxable year...), when it has been determined that such shareholder has failed to receive a minimum distribution for such...

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome.

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Cagdas, Deniz; Gur Cetinkaya, Pınar; Karaatmaca, Betül; Esenboga, Saliha; Tan, Cagman; Yılmaz, Togay; Gümüş, Ersin; Barış, Safa; Kuşkonmaz, Barış; Ozgur, Tuba Turul; Bali, Pawan; Santisteban, Ines; Orhan, Diclehan; Yüce, Aysel; Cetinkaya, Duygu; Boztug, Kaan; Hershfield, Michael; Sanal, Ozden; Tezcan, İlhan

2018-05-09

Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT). Measurement of ADA enzyme activity and metabolites and sequencing of the ADA gene were performed in most of the patients with ADA deficiency. One of the patients with late-onset ADA deficiency was diagnosed by the help of primary immunodeficiency panel screening. Ten out of 13 patients were diagnosed as SCID, while 3 out of 13 were diagnosed as delayed-/late-onset ADA deficiency. Late-onset ADA deficiency patients had clinical and laboratory findings of combined immunodeficiency (CID). Eight patients with ADA-SCID were found to have higher levels of ADA metabolite (dAXP%) (62.1% (34.6-71.9)) than 3 patients with delayed-/late-onset ADA deficiency (6.9% (2.1-8.9). All but one patient with SCID had T-B-NK- phenotype, one had T-B-NK+ phenotype. Genetic defect was documented in 11 patients. Four out of 11 patients had compound heterozygous defects. Three out of 4 patients with compound heterozygous defects had delayed-onset/late-onset ADA deficiency. Seven out of 11 patients with SCID had homozygous defects. Five out of 7 had the same homozygous indel frameshift mutation (c.955-959delGAAGA) showing a founder effect. There were two novel splice site defects: one (IVS10+2T>C) was heterozygous in a patient with late-onset ADA deficiency, and the other was homozygous (IVS2delT+2) in a SCID patient. Other defects were missense defects. Nine out of 13 patients were put on pegylated ADA ERT. Four out of six patients were transplanted without using a conditioning

Seasonal variation in the nutritional status of children aged 6 to 60 months in a resettlement village in West Timor.

Science.gov (United States)

Miller, Jacqueline; Ritchie, Brett; Tran, Cuong; Beggs, Sean; Lada, Christina Olly; Whetter, Kathryn; Cobiac, Lynne

2013-01-01

Childhood malnutrition remains a public health issue in Indonesia with a national prevalence of wasting of 13% and stunting of 36%. In rural areas nutritional status depends on local agriculture and may fluctuate in relation to harvest time. The aim of this study was to characterise seasonal variations in nutritional status in two resettlement villages in the Oesao district, Nusa Tenggara Timur. A cross sectional study was conducted in a convenience sample of children after the wet season (March). Children aged 6 to 60 months were assessed for nutritional status using anthropometric and biochemical measures. A subset of these children was re-assessed for anthropometry after the dry season (November). Weight-for-height z scores improved significantly from mean±SD of -1.7± 0.9 in March to -1.3±0.9 in November (p<0.001). There was no significant change in height between seasons. Prevalence of wasting, (weight-for-height z score <-2), was 42% in March and 19% in November (p<0.001). However, stunting rates increased significantly from 42% in March to 45% in November (p<0.001). Thirty six per cent of children were anaemic (Hb level <11 mg/100 mL), 68% were vitamin A deficient (plasma vitamin A level <0.8 μmol/L) and 50% were zinc deficient (plasma zinc <9.94 μmol/L). All children except one were positive for intestinal parasites. These data indicate seasonal changes in anthropometry with inconsistent effects depending on the anthropometric index measured. Wasting and stunting were higher than the national average, alongside high rates of anaemia, zinc and vitamin A deficiencies.

Ascorbic acid deficiency decreases hepatic cytochrome P-450, especially CYP2B1/2B2, and simultaneously induces heme oxygenase-1 gene expression in scurvy-prone ODS rats.

Science.gov (United States)

Kobayashi, Misato; Hoshinaga, Yukiko; Miura, Natsuko; Tokuda, Yuki; Shigeoka, Shigeru; Murai, Atsushi; Horio, Fumihiko

2014-01-01

The mechanisms underlying the decrease in hepatic cytochrome P-450 (CYP) content in ascorbic acid deficiency was investigated in scurvy-prone ODS rats. First, male ODS rats were fed a diet containing sufficient ascorbic acid (control) or a diet without ascorbic acid (deficient) for 18 days, with or without the intraperitoneal injection of phenobarbital. Ascorbic acid deficiency decreased hepatic microsomal total CYP content, CYP2B1/2B2 protein, and mitochondrial cytochrome oxidase (COX) complex IV subunit I protein, and simultaneously increased heme oxygenase-1 protein in microsomes and mitochondria. Next, heme oxygenase-1 inducers, that is lipopolysaccharide and hemin, were administered to phenobaribital-treated ODS rats fed sufficient ascorbic acid. The administration of these inducers decreased hepatic microsomal total CYP content, CYP2B1/2B2 protein, and mitochondrial COX complex IV subunit I protein. These results suggested that the stimulation of hepatic heme oxygenase-1 expression by ascorbic acid deficiency caused the decrease in CYP content in liver.

Vitamin C Deficiency Reduces Muscarinic Receptor Coronary Artery Vasoconstriction and Plasma Tetrahydrobiopterin Concentration in Guinea Pigs

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Gry Freja Skovsted

2017-07-01

Full Text Available Vitamin C (vitC deficiency is associated with increased cardiovascular disease risk, but its specific interplay with arteriolar function is unclear. This study investigates the effect of vitC deficiency in guinea pigs on plasma biopterin status and the vasomotor responses in coronary arteries exposed to vasoconstrictor/-dilator agents. Dunkin Hartley female guinea pigs (n = 32 were randomized to high (1500 mg/kg diet or low (0 to 50 mg/kg diet vitC for 10–12 weeks. At euthanasia, coronary artery segments were dissected and mounted in a wire-myograph. Vasomotor responses to potassium, carbachol, sodium nitroprusside (SNP, U46619, sarafotoxin 6c (S6c and endothelin-1 (ET-1 were recorded. Plasma vitC and tetrahydrobiopterin were measured by HPLC. Plasma vitC status reflected the diets with deficient animals displaying reduced tetrahydrobiopterin. Vasoconstrictor responses to carbachol were significantly decreased in vitC deficient coronary arteries independent of their general vasoconstrictor/vasodilator capacity (p < 0.001. Moreover, in vitC deficient animals, carbachol-induced vasodilator responses correlated with coronary artery diameter (p < 0.001. Inhibition of cyclooxygenases with indomethacin increased carbachol-induced vasoconstriction, suggesting an augmented carbachol-induced release of vasodilator prostanoids. Atropine abolished carbachol-induced vasomotion, supporting a specific muscarinic receptor effect. Arterial responses to SNP, potassium, S6c, U46619 and ET-1 were unaffected by vitC status. The study shows that vitC deficiency decreases tetrahydrobiopterin concentrations and muscarinic receptor mediated contraction in coronary arteries. This attenuated vasoconstrictor response may be linked to altered production of vasoactive arachidonic acid metabolites and reduced muscarinic receptor expression/signaling.

Bulk and surface electron transport in topological insulator candidate YbB{sub 6-δ}

Energy Technology Data Exchange (ETDEWEB)

Glushkov, Vladimir V.; Demishev, Sergey V.; Sluchanko, Nikolay E. [Prokhorov General Physics Institute of RAS, Vavilov str. 38, 119991, Moscow (Russian Federation); Moscow Institute of Physics and Technology, Institutskii per. 9, 141700, Dolgoprudny, Moscow Region (Russian Federation); Bozhko, Alexey D.; Bogach, Alexey V.; Semeno, Alexey V.; Voronov, Valeriy V. [Prokhorov General Physics Institute of RAS, Vavilov str. 38, 119991, Moscow (Russian Federation); Dukhnenko, Anatoliy V.; Filipov, Volodimir B.; Shitsevalova, Natalya Yu. [Frantsevich Institute for Problems of Materials Science NAS, Krzhyzhanovsky str. 3, 03680, Kiev (Ukraine); Kondrin, Mikhail V. [Vereshchagin Institute of High Pressure Physics of RAS, 142190, Troitsk, Moscow (Russian Federation); Kuznetsov, Alexey V.; Sannikov, Ilia I. [National Research Nuclear University ' ' MEPhI' ' , Kashirskoe Shosse 31, 115409, Moscow (Russian Federation)

2016-04-15

We report the study of transport and magnetic properties of the YbB{sub 6-δ}single crystals grown by inductive zone melting. A strong disparity in the low temperature resistivity, Seebeck and Hall coefficients is established for the samples with the different level of boron deficiency. The effective parameters of the charge transport in YbB{sub 6-δ} are shown to depend on the concentration of intrinsic defects, which is estimated to range from 0.09% to 0.6%. The pronounced variation of Hall mobility μ{sub H} found for bulk holes is induced by the decrease of transport relaxation time from τ ∼ 7.7 fs for YbB{sub 5.994} to τ ∼ 2.2 fs for YbB{sub 5.96}. An extra contribution to conductivity from electrons with μ{sub H}∼ -1000 cm{sup 2} V{sup -1} s{sup -1} and the very low concentration n /n{sub Yb}∼ 10{sup -6} discovered below 20 K for all the single crystals under investigation is suggested to arise from the surface electron states appeared in the inversion layer due to the band bending. (copyright 2016 WILEY-VCH Verlag GmbH and Co. KGaA, Weinheim)

Interesting case of G6PD deficiency anemia with severe hemolysis

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Anupam Chhabra

2013-01-01

Full Text Available Severe hemolysis was observed in a critically ill patient with G6Pd deficiency where the causative trigger could not be identified. We describe one young patient with severe hemolysis treated with two cycles of plasmapheresis which proved to be an effective tool in the treatment. The patient presented with diffuse pain abdomen, vomiting, yellowish discoloration of sclera and skin and acute breathlessness. Hemoglobin 5.4 mg/dl and total (T serum bilirubin 17.08 mg/dl: Direct (D 4.10 mg/dl and Indirect (I 12.98 mg/dl. Subsequently patient started passing black color urine. As the patient developed severe hemolysis and the trigger agent of hemolysis was unknown, two cycles of plasmapheresis were performed with the aim to remove unknown causative agent. Consequently no trace of hemolysis was found and patient stabilized. Plasmapheresis can be used to treat G6PD deficient patients with severe hemolysis due to unidentified trigger agent.

Multiple nutritional deficiencies in cerebral palsy compounding physical and functional impairments

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P G Hariprasad

2017-01-01

Full Text Available Introduction: Cerebral palsy (CP refers to a spectrum of disorders causing physical and intellectual morbidity. Macro and micro nutrient deficiencies often contribute to the subnormal physical and mental capabilities of them. Objectives: To assess the growth, nutritional status, physical and functional ability and quality of life in cerebral palsy children and to determine any relation with their gross motor and functional capabilities. Method: The study was conducted at a Tertiary Care Centre, with the participants in the age group 1-16 years. A pretested evaluation tool was prepared which included Anthropometric measurements, tests for hemoglobin and Vitamin D estimation, evidence of micronutrient deficiencies, Dietary patterns, Epidemiological factors, Functional assessment using GMFM (Gross Motor Function Measure and FIM (Functional Independent Measurement scales and Quality of life (QOL assessment. The data was statistically analyzed. Results: Out of the 41 children, 30 had quadriplegia, 3 had hemiplegia and 8 had spastic diplegia. 34 (82.9% were severely underweight, 35 (85.4% had severe stunting and 38 (92.7% had severe wasting. Micronutrient deficiencies were noted like vitamin B complex deficiency in 37 (90.2%, vitamin A deficiency in 31 (75.6%, low vitamin D levels in 27 (65.9% and insufficient levels in 9 (22%, severe anemia in 5 (12.2% and moderate anemia in 26 (63.4%.The gross motor and functional scores were suboptimum in the majority of patients and the care givers had significant impairment in the quality of life. Conclusion: Majority of children with cerebral palsy had multiple nutritional deficiencies, gross motor and functional disabilities. QOL of the children and their care givers were suboptimum. A comprehensive package that address dietary intake, correction of micronutrient deficiencies especially anemia and vitamin D deficiency, physical and emotional support is recommended for the wellbeing of the affected children.

Erythrocyte glucose-6-phosphate dehydrogenase deficiency in male newborn babies and its relationship with neonatal jaundice Deficiência de glicose-6-fosfato desidrogenase eritrocitária em recém-nascidos do sexo masculino e sua relação com a icterícia neonatal

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Marli Auxiliadora C. Iglessias

2010-01-01

Full Text Available Glucose-6-phosphate dehydrogenase (G6PD deficiency, the commonest red cell enzymopathy in humans, has an X-linked inheritance. The major clinical manifestations are drug induced hemolytic anemia, neonatal jaundice and chronic nonspherocytic hemolytic anemia. The incidence of neonatal hyperbilirubinemia is much greater in G6PD-deficient neonates than babies without this deficiency. The aim of this study was to ascertain the presence of neonatal jaundice in erythrocyte G6PD-deficient male newborns. Samples of umbilical cord blood from a total of 204 male newborns of the Januário Cicco School Maternity located in Natal, Rio Grande do Norte, Brazil were analyzed. The G6PD deficiency was identified by the methemoglobin reduction test (Brewer's test. The deficiency was confirmed by quantitative spectrophotometric assay for enzyme activity and cellulose acetate electrophoresis was used to identify the G6PD variant. Eight newborns were found to be G6PD deficient with four of them exhibiting jaundice during the first 48 hours after birth with bilirubin levels higher than 10 mg/dL. All deficient individuals presented the G6PD A- variant at electrophoresis. Our findings confirmed the association between G6PD deficiency and neonatal jaundice. Hence, early diagnosis of the deficiency at birth is essential to control the appearance of jaundice and to prevent the exposure of these newborns to known hemolytic agents.A deficiência de glicose-6-fosfato desidrogenase (G6PD é a anormalidade enzimática hereditária mais frequente. É transmitida como caráter recessivo ligado ao cromossomo X e as principais manifestações clínicas são hemólise induzida por fármacos, icterícia neonatal e anemia hemolítica não esferocítica. O objetivo do estudo foi determinar a presença de icterícia neonatal em recém-nascidos do sexo masculino deficientes de glicose-6-fosfato desidrogenase. Foram analisadas 204 amostras de sangue umbilical de recém-nascidos do sexo

Nutritional Status of the Cauliflower Cultivar ‘Verona’ Grown with Omission of out Added Macronutrients

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Bianco, Matheus Saraiva; Cecílio Filho, Arthur Bernardes; de Carvalho, Leonardo Bianco

2015-01-01

Knowledge of plant nutritional status allows an understanding of the physiological responses of plants to crop fertilization. A hydroponic experiment evaluated the symptoms of macronutrient deficiency in cauliflower ‘Verona’ and determined: a) the macronutrient contents of foliar tissues when visual symptoms were observed, b) macronutrients content of foliar and inflorescence tissues at harvest. The effect of nutrient deficiency on inflorescence mass was also evaluated. Nitrogen deficiency caused chlorosis followed by purple color in the old leaves, while P deficiency caused only chlorosis in old leaves. Chlorosis at the edge of old leaves progressing to the center of the leaves was observed with the omission of K, and after was observed necrosis in the chlorotic areas. Ca deficiency caused tip burn in new leaves, while Mg deficiency caused internerval chlorosis in old leaves. The omission of each macronutrient reduced inflorescence dry matter. This deleterious effect was larger for N, P, and K deficiencies, reducing inflorescence dry matter by 87, 49, and 42%, respectively. When the nutrient solutions without N, P, K, Ca, or Mg were supplied to cauliflower plants, the macronutrient contents at harvest were 8.8, 0.6, 3.5, 13.0, and 0.8 g kg-1 in the foliar tissues and 27.3, 2.2, 21.6, 1.1, and 0.7 g kg-1 in the inflorescence tissues, respectively. PMID:25856380

STATUS GIZI DAN STATUS IODIUM PADA BALITA DENGAN SUSPECT DOWN SYNDROME

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Hastin Dyah K.

2012-10-01

Full Text Available Background: Nutritional status is one of the factor that determines the human resources and quality of life. Toddlers are one of vulnerable groups for nutritional problems. One of the nutrition problem in Indonesia is Iodine deficiency disorder. Clinical manifestations are not only endemic goiter and cretins, but also abortion, stillbirth, and congenital abnormalities. Congenital abnormalities are commonly found in areas ofendemic iodine deficiency disorder such as Down Syndrome. Objectives: This study aims to determine the iodine nutrition status of children under jive with Down Syndrome Suspect in endemic areas ofiodine deficiency disorder. Method: This research is descriptive study with cross sectional design. The study was conducted in Magelang district, which is endemic iodine deficiency disorder. Total sample of30 under jive years old with Down Syndrome Suspect. Result: The result showed that the nutritional status of respondents based on the weight/age index was 50% had good nutritional status. According to height/age index as much as 70% are short and very short. Based on weight/height index was 73,3% with normal nutritional status. At least 33% of children with Down Syndrome Suspect accompanied hypothyroidism.  Keywords: Suspect Down Syndrome, Nutritional Status, Iodine Status

Vitamin Deficiency Anemia

Science.gov (United States)

... are unique to specific vitamin deficiencies. Folate-deficiency anemia risk factors include: Undergoing hemodialysis for kidney failure. ... the metabolism of folate. Vitamin B-12 deficiency anemia risk factors include: Lack of intrinsic factor. Most ...

Significant Independent Predictors of Vitamin D Deficiency in Inpatients and Outpatients of a Nephrology Unit

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Recep Bentli

2013-01-01

Full Text Available Aims. Kidney disease was found to be a major risk factor for vitamin D deficiency in a population study of patients hospitalized. The aims of the study were to describe the prevalence of vitamin D deficiency inpatients and outpatients in a nephrology department during fall and to evaluate effect of assessing serum 25-hydroxyvitamin D (25(OHD levels and previous supplementation of cholecalciferol on vitamin D status. Methods. We studied 280 subjects in total, between October and January. The subjects were recruited from the following two groups: (a inpatients and (b outpatients in nephrology unit. We examined previous documentary evidence of vitamin D supplementation of the patients. Results. The prevalence of vitamin D deficiency among these 280 patients was 62,1% (174 patients. Fifty-three patients (18.9% had severe vitamin D deficiency, 121 patients (43.2% moderate vitamin D deficiency, and 66 patients (23.6% vitamin D insufficiency. In logistic regression analysis female gender, not having vitamin D supplementation history, low serum albumin, and low blood urea nitrogen levels were significant independent predictors of vitamin D deficiency while no association of vitamin D deficiency with diabetes mellitus, serum creatinine, eGFR, and being hospitalized was found. Conclusion. Vitamin D deficiency, seems to be an important problem in both inpatients and outpatients of nephrology. Monitoring serum 25(OHD concentrations regularly and replacement of vitamin D are important. Women in Turkey are at more risk of deficiency and may therefore need to consume higher doses of vitamin D.

[Vitamin deficiencies in breastfed children due to maternal dietary deficiency

NARCIS (Netherlands)

Kollee, L.A.A.

2006-01-01

Dietary deficiencies of vitamin B12 and vitamin D during pregnancy and lactation may result in health problems in exclusively breastfed infants. Vitamin-B12 deficiency in these infants results in irritability, anorexia and failure to thrive during the first 4-8 months of life. Severe and permanent

Mitogen response of B cells, but not T cells, is impaired in adult vitamin A-deficient rats

NARCIS (Netherlands)

van Bennekum, A. M.; Wong Yen Kong, L. R.; Gijbels, M. J.; Tielen, F. J.; Roholl, P. J.; Brouwer, A.; Hendriks, H. F.

1991-01-01

The effect of vitamin A deficiency on the mitogen response of splenic B and T lymphocytes was determined in adult vitamin A-deficient rats. Female weanling Brown Norway/Billingham-Rijswijk (BN/BiRij) and Sprague-Dawley rats were fed a semipurified, essentially vitamin A-free diet, which resulted in

Leitura SPAD em abacaxizeiro imperial cultivado em deficiência de macronutrientes e de boro Spad reading in imperial pineapple under macronutrientes and boron deficiency

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Maria José Mota Ramos

2013-03-01

Full Text Available O equipamento Minolta SPAD-502 mede a intensidade da coloração verde das folhas e tem sido utilizado na quantificação de clorofilas, caracterizando-se pela rapidez, simplicidade e, principalmente, por possibilitar uma avaliação não destrutiva do tecido foliar. O objetivo deste trabalho foi calibrar a leitura SPAD, correlacionando-a com o diagnóstico das deficiências induzidas de macronutrientes e de boro associando às deficiências ao crescimento vegetativo do abacaxizeiro. O experimento constou de oito tratamentos: Completo, -N, -P, -K, -Ca, -Mg, -S e - B, em blocos casualizados completos, com seis repetições. Foram avaliados o comprimento e a largura da folha "D" (marcada e realizadas leituras com o medidor de clorofila SPAD 502. O uso do método de medida indireta da clorofila é adequado para a avaliação do estado nutricional de N e de crescimento vegetativo do abacaxizeiro 'Imperial'. O valor Spad e a concentração foliar de N no tratamento completo são, respectivamente: 75,7 e 14,8 g kg-1, e no deficiente de N: 36,6 e 9,7g kg-1. Com exceção das deficiências de N e P, os demais tratamentos não afetaram a leitura SPAD.The equipment Minolta SPAD-502 measures the intensity of green color of leaves and has been used in the quantification of chlorophyll, characterized by speed, simplicity, and especially by allowing a non-destructive evaluation of the leaf tissue. The objective of this study was to calibrate the SPAD reading and its correlation with the diagnosis of induced deficiencies of macronutrients and boron deficiencies involving the vegetative growth of the pineapple. The experiment consisted of eight treatments: complete, -N,-P, -K, -Ca, -Mg, -S and -B in randomized complete block with six replicates. It was evaluated the length and the width of the sheet "D" (marked and readings taken with the SPAD 502 chlorophyll meter. The use of the method of indirect measurement of chlorophyll is suitable for assessing the

Association between iron deficiency anemia and blood level in egyptian children

International Nuclear Information System (INIS)

Nassar, E.M.; Moawad, A.T.; Abd Alla, A.M.

2003-01-01

The relationship between iron deficiency and blood lead levels was investigated in a cross-sectional study of 200 children of both sexes, aged 6-12 years with mean of 7.8 +- 2.6 years. They were randomly selected from governmental primary school located near a highly contaminated industrial area. Blood samples were collected for measuring blood lead levels, serum iron serum ferritin, hemoglobin, mean corpuscular volume (MCV) and total iron binding capacity (TIBC) and other hematological indices. According to iron status, children were classified into non-anemic healthy controls(n=37),iron depleted children(n=58)and children with iron deficiency anemia (n=105).Iron deficiency is defined when MCV 10 / dl were significantly lower than those for children with blood lead levels < 10 /dl. Comparison of blood lead concentrations between boys and girls revealed highly significant increase in blood lead level in boys than girls. A strong negative correlation was detected between blood lead levels and serum iron in all subjects. However, such correlation vanished between blood lead concentration and serum ferritin,so, it could be concluded from the present study that the blood lead levels were changed according to changes in iron status. Improving iron status, along with reducing exposure to environmental contamination with lead, may help in reducing blood lead levels among most children especially those living in contaminated environment

Current iodine nutrition status and progress toward elimination of iodine deficiency disorders in Jazan, Saudi Arabia

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Alsanosy Rashad Mohammed

2012-11-01

Full Text Available Abstract Background The term iodine deficiency disorders (IDD refers to all the effects of iodine deficiency on growth and development in human and animal populations that can be prevented by correction of the iodine deficiency. The objective of this paper was to determine the iodine nutrition status among schoolchildren in the Jazan Region of the Kingdom of Saudi Arabia (KSA, by measuring urinary iodine concentrations and by clinical assessments of goiter rate. Methods A school-based cross-sectional survey was conducted in the Jazan region of southwestern KSA from May to November 2010. A total of 311 children, aged 6–13 years, drawn from 12 schools, were selected by a three-stage cluster random sampling method. Data on sociodemographic characteristics were collected using a structured questionnaire. Urine samples were collected and physical examinations were conducted to determine the presence or absence of goiter. Data were analyzed using SPSS version 17.0. Chi square and independent t-tests were used for proportions and mean comparisons between groups. Results Out of 360 selected children, 311 were examined. There were 131 males (42% and 180 females (58%. The median urinary iodine concentration (UIC of the study group was 421 μg/L. The study population proportion with UIC > 300 μg/L was 74% with a higher proportion among males and urban populations. The proportion of children with UIC of 100–300 μg/L was only 21% and was significantly higher among females compared with males (p Conclusions The present study demonstrates a remarkable achievement in Universal Salt Iodization (USI and IDD elimination goals in the Jazan area. However, UIC levels reflect excessive iodine intake and may put the population at risk of adverse health consequences like iodine-induced hyperthyroidism and autoimmune thyroid diseases.

Aespoe Task Force on modelling of groundwater flow and transport of solutes. Review of Tasks 6b, 6b and 6b

Energy Technology Data Exchange (ETDEWEB)

Hodgkinson, David [Quintessa, Henley-on-Thames (United Kingdom); Black, John [In Situ Solutions, East Bridgford (United Kingdom)

2005-03-01

This report forms part of an independent review of the specifications, execution and results of Task 6 of the Aespoe Task Force on Modelling of Groundwater Flow and Transport of Solutes, which is seeking to provide a bridge between site characterization and performance assessment approaches to solute transport in fractured rock. The present report is concerned solely with Tasks 6b, 6b and 6b which relate to the transport of tracers on a 5-metre scale in Feature A at the TRUE-1 site. The task objectives, specifications and individual modelling team results are summarised and reviewed, and an evaluation of the overall exercise is presented. The report concludes with assessments of what has been learnt, the implications for the Task 6 objectives, and some possible future directions.

Biotin deficiency up-regulates TNF-alpha production in murine macrophages.

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Kuroishi, Toshinobu; Endo, Yasuo; Muramoto, Koji; Sugawara, Shunji

2008-04-01

Biotin, a water-soluble vitamin of the B complex, functions as a cofactor of carboxylases that catalyze an indispensable cellular metabolism. Although significant decreases in serum biotin levels have been reported in patients with chronic inflammatory diseases, the biological roles of biotin in inflammatory responses are unclear. In this study, we investigated the effects of biotin deficiency on TNF-alpha production. Mice were fed a basal diet or a biotin-deficient diet for 8 weeks. Serum biotin levels were significantly lower in biotin-deficient mice than biotin-sufficient mice. After i.v. administration of LPS, serum TNF-alpha levels were significantly higher in biotin-deficient mice than biotin-sufficient mice. A murine macrophage-like cell line, J774.1, was cultured in a biotin-sufficient or -deficient medium for 4 weeks. Cell proliferation and biotinylation of intracellular proteins were decreased significantly in biotin-deficient cells compared with biotin-sufficient cells. Significantly higher production and mRNA expression of TNF-alpha were detected in biotin-deficient J774.1 cells than biotin-sufficient cells in response to LPS and even without LPS stimulation. Intracellular TNF-alpha expression was inhibited by actinomycin D, indicating that biotin deficiency up-regulates TNF-alpha production at the transcriptional level. However, the expression levels of TNF receptors, CD14, and TLR4/myeloid differentiation protein 2 complex were similar between biotin-sufficient and -deficient cells. No differences were detected in the activities of the NF-kappaB family or AP-1. The TNF-alpha induction by biotin deficiency was down-regulated by biotin supplementation in vitro and in vivo. These results indicate that biotin deficiency may up-regulate TNF-alpha production or that biotin excess down-regulates TNF-alpha production, suggesting that biotin status may influence inflammatory diseases.

Leptin deficiency-induced obesity exacerbates ultraviolet B radiation-induced cyclooxygenase-2 expression and cell survival signals in ultraviolet B-irradiated mouse skin

International Nuclear Information System (INIS)

Sharma, Som D.; Katiyar, Santosh K.

2010-01-01

Obesity has been implicated in several inflammatory diseases and in different types of cancer. Chronic inflammation induced by exposure to ultraviolet (UV) radiation has been implicated in various skin diseases, including melanoma and nonmelanoma skin cancers. As the relationship between obesity and susceptibility to UV radiation-caused inflammation is not clearly understood, we assessed the role of obesity on UVB-induced inflammation, and mediators of this inflammatory response, using the genetically obese (leptin-deficient) mouse model. Leptin-deficient obese (ob/ob) mice and wild-type counterparts (C57/BL6 mice) were exposed to UVB radiation (120 mJ/cm 2 ) on alternate days for 1 month. The mice were then euthanized and skin samples collected for analysis of biomarkers of inflammatory responses using immunohistochemistry, western blotting, ELISA and real-time PCR. Here, we report that the levels of inflammatory responses were higher in the UVB-exposed skin of the ob/ob obese mice than those in the UVB-exposed skin of the wild-type non-obese mice. The levels of UVB-induced cyclooxygenase-2 expression, prostaglandin-E 2 production, proinflammatory cytokines (i.e., tumor necrosis factor-α, interleukin-1β, interleukin-6), and proliferating cell nuclear antigen and cell survival signals (phosphatidylinositol-3-kinase and p-Akt-Ser 473 ) were higher in the skin of the ob/ob obese mice than the those in skin of their wild-type non-obese counterparts. Compared with the wild-type non-obese mice, the leptin-deficient obese mice also exhibited greater activation of NF-κB/p65 and fewer apoptotic cells in the UVB-irradiated skin. Our study suggests for the first time that obesity in mice is associated with greater susceptibility to UVB-induced inflammatory responses and, therefore, obesity may increase susceptibility to UVB-induced inflammation-associated skin diseases, including the risk of skin cancer.

Widespread episodic thiamine deficiency in Northern Hemisphere wildlife

Science.gov (United States)

Balk, Lennart; Hägerroth, Per-Åke; Gustavsson, Hanna; Sigg, Lisa; Åkerman, Gun; Ruiz Muñoz, Yolanda; Honeyfield, Dale C.; Tjärnlund, Ulla; Oliveira, Kenneth; Ström, Karin; McCormick, Stephen D.; Karlsson, Simon; Ström, Marika; van Manen, Mathijs; Berg, Anna-Lena; Halldórsson, Halldór P.; Strömquist, Jennie; Collier, Tracy K.; Börjeson, Hans; Mörner, Torsten; Hansson, Tomas

2016-12-01

Many wildlife populations are declining at rates higher than can be explained by known threats to biodiversity. Recently, thiamine (vitamin B1) deficiency has emerged as a possible contributing cause. Here, thiamine status was systematically investigated in three animal classes: bivalves, ray-finned fishes, and birds. Thiamine diphosphate is required as a cofactor in at least five life-sustaining enzymes that are required for basic cellular metabolism. Analysis of different phosphorylated forms of thiamine, as well as of activities and amount of holoenzyme and apoenzyme forms of thiamine-dependent enzymes, revealed episodically occurring thiamine deficiency in all three animal classes. These biochemical effects were also linked to secondary effects on growth, condition, liver size, blood chemistry and composition, histopathology, swimming behaviour and endurance, parasite infestation, and reproduction. It is unlikely that the thiamine deficiency is caused by impaired phosphorylation within the cells. Rather, the results point towards insufficient amounts of thiamine in the food. By investigating a large geographic area, by extending the focus from lethal to sublethal thiamine deficiency, and by linking biochemical alterations to secondary effects, we demonstrate that the problem of thiamine deficiency is considerably more widespread and severe than previously reported.

Widespread episodic thiamine deficiency in Northern Hemisphere wildlife

Science.gov (United States)

Balk, Lennart; Hägerroth, Per-Åke; Gustavsson, Hanna; Sigg, Lisa; Akerman, Gun; Ruiz Muñoz, Yolanda; Honeyfield, Dale C.; Tjarnlund, Ulla; Oliveira, Kenneth; Strom, Karin; McCormick, Stephen D.; Karlsson, Simon; Strom, Marika; van Manen, Mathijs; Berg, Anna-Lena; Halldórsson, Halldór P.; Stromquist, Jennie; Collier, Tracy K.; Borjeson, Hans; Morner, Torsten; Hansson, Tomas

2016-01-01

Many wildlife populations are declining at rates higher than can be explained by known threats to biodiversity. Recently, thiamine (vitamin B1) deficiency has emerged as a possible contributing cause. Here, thiamine status was systematically investigated in three animal classes: bivalves, ray-finned fishes, and birds. Thiamine diphosphate is required as a cofactor in at least five life-sustaining enzymes that are required for basic cellular metabolism. Analysis of different phosphorylated forms of thiamine, as well as of activities and amount of holoenzyme and apoenzyme forms of thiamine-dependent enzymes, revealed episodically occurring thiamine deficiency in all three animal classes. These biochemical effects were also linked to secondary effects on growth, condition, liver size, blood chemistry and composition, histopathology, swimming behaviour and endurance, parasite infestation, and reproduction. It is unlikely that the thiamine deficiency is caused by impaired phosphorylation within the cells. Rather, the results point towards insufficient amounts of thiamine in the food. By investigating a large geographic area, by extending the focus from lethal to sublethal thiamine deficiency, and by linking biochemical alterations to secondary effects, we demonstrate that the problem of thiamine deficiency is considerably more widespread and severe than previously reported.

High prevalence of vitamin D deficiency and insufficiency in adolescent inpatients diagnosed with eating disorders.

Science.gov (United States)

Modan-Moses, Dalit; Levy-Shraga, Yael; Pinhas-Hamiel, Orit; Kochavi, Brigitte; Enoch-Levy, Adi; Vered, Iris; Stein, Daniel

2015-09-01

Previous studies assessing vitamin D status in adolescents with eating disorders showed inconsistent results. The aim of the current study was to assess vitamin D status in a large cohort of adolescent inpatients with eating disorders and its relation to bone mineral density (BMD) and depression. 25-Hydroxyvitamin D (25OHD), calcium, phosphorus, and alkaline phosphatase levels as well as BMD and depression were assessed on admission in 87 inpatients (aged 16 ± 2 years, females = 81) with eating disorders [anorexia nervosa (AN) = 64; bulimia nervosa (BN) = 5; eating disorders not otherwise specified-binge/purge type (EDNOS-B/P) = 18]. Mean 25OHD levels were 24.1 ± 7.5 ng/ml (25.0 ± 7.6, 25.4 ± 9.9, and 22.0 ± 9.9 ng/ml in patients with AB, BN, and EDNOS-B/P, respectively). Vitamin D deficiency (32 ng/ml, considered optimal by some experts. No associations were found between 25OHD levels and BMD or comorbid depression. 25OHD levels during winter were significantly lower than summer levels (p EDNOS-B/P type was low (-1.5 ± 1.1) and correlated with body mass index standard deviation score (p = .03). Adolescents with eating disorders show a high prevalence of vitamin D deficiency and insufficiency. Given the risk of osteoporosis in this population, 25OHD levels found in this group may not offer optimal bone protection. Vitamin D levels should be routinely checked and supplementation should be administered as required. © 2014 Wiley Periodicals, Inc.

Gaped deficiency distribution and variants in Saudi Arabia: An overview

International Nuclear Information System (INIS)

El-Hazmi, Mohsen A.F.; Warsy, Arjumand S.

2001-01-01

The first report of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Saudi population of the Eastern Province paved the way for extensive investigations to determine the distribution and molecular pathogenesis of G6PD deficiency in Saudis in different parts of the country. During a national study lasting from 1980 to 1993, 24,407 Saudi in 31 different areas of Saudi Arabia screened for G6PD deficiency using spectrophoretic estimation of enzyme activity and electrophoretic separation of the phenotypes. The results in the males and females were separately analyzed and showed a statistically significant difference in the frequency in the male (0.0905) and female (0.041) population (P<0.05). The frequency in the male varied from 0 to 0.398 and in the female from 0 to 0.214. The phenotypes identified included G6PD-A, G6PD-Mediterranean and G6PD-Med-Like with G6PD-B as the normal phenotype in all areas. This study shows that G6PD deficiency is a frequently identified single-gene disorder in Saudi Arabia and G6PD-Mediterranean is the major variant producing the severe deficiency state in this population. (author)

Iron Deficiency in Long-Term Parenteral Nutrition Therapy.

Science.gov (United States)

Hwa, Yi L; Rashtak, Shahrooz; Kelly, Darlene G; Murray, Joseph A

2016-08-01

Iron is not routinely added to parenteral nutrition (PN) formulations in the United States because of the risk of anaphylaxis and concerns about incompatibilities. Studies have shown that iron dextran in non-lipid-containing PN solutions is safe. Data are limited on iron status, prevalence of iron deficiency anemia (IDA), and efficacy of intravenous iron infusion in long-term home PN (HPN). We aimed to determine the incidence of IDA and to examine the effectiveness of parenteral iron replacement in patients receiving HPN. Medical records of patients receiving HPN at the Mayo Clinic from 1977 to 2010 were reviewed. Diagnoses, time to IDA development, and hemoglobin, ferritin, and mean corpuscular volume (MCV) values were extracted. Response of iron indices to intravenous iron replacement was investigated. Of 185 patients (122 women), 60 (32.4%) were iron deficient. Five patients were iron deficient, and 18 had unknown iron status before HPN. Of 93 patients who had sufficient iron storage, 37 had IDA development after a mean of 27.2 months (range, 2-149 months) of therapy. Iron was replaced by adding maintenance iron dextran to PN or by therapeutic iron infusion. Patients with both replacement methods had significant improvement in iron status. With intravenous iron replacement, mean ferritin increased from 10.9 to 107.6 mcg/L (P Parenteral and Enteral Nutrition.

Estrogen deficiency inhibits the odonto/osteogenic differentiation of dental pulp stem cells via activation of the NF-κB pathway.

Science.gov (United States)

Wang, Yanping; Yan, Ming; Yu, Yan; Wu, Jintao; Yu, Jinhua; Fan, Zhipeng

2013-06-01

Various factors can affect the functions of dental pulp stem cells (DPSCs). However, little knowledge is available about the effects of estrogen deficiency on the differentiation of DPSCs. In this study, an estrogen-deficient rat model was constructed and multi-colony-derived DPSCs were obtained from the incisors of ovariectomized (OVX) or sham-operated rats. Odonto/osteogenic differentiation and the possible involvement of the nuclear factor kappa B (NF-κB) pathway in the OVX-DPSCs/Sham-DPSCs of these rats were then investigated. OVX-DPSCs presented decreased odonto/osteogenic capacity and an activated NF-κB pathway, as compared with Sham-DPSCs. When the cellular NF-κB pathway was specifically inhibited by BMS345541, the odonto/osteogenic potential in OVX-DPSCs was significantly upregulated. Thus, estrogen deficiency down-regulated the odonto/osteogenic differentiation of DPSCs by activating NF-κB signaling and inhibition of the NF-κB pathway effectively rescued the decreased differentiation potential of DPSCs.

Size effect of added LaB6 particles on optical properties of LaB6/Polymer composites

International Nuclear Information System (INIS)

Yuan Yifei; Zhang Lin; Hu Lijie; Wang Wei; Min Guanghui

2011-01-01

Modified LaB 6 particles with sizes ranging from 50 nm to 400 nm were added into polymethyl methacrylate (PMMA) matrix in order to investigate the effect of added LaB 6 particles on optical properties of LaB 6 /PMMA composites. Method of in-situ polymerization was applied to prepare PMMA from raw material—methyl methacrylate (MMA), a process during which LaB 6 particles were dispersed in MMA. Ultraviolet–visible–near infrared (UV–vis–NIR) absorption spectrum was used to study optical properties of the as-prepared materials. The difference in particle size could apparently affect the composites' absorption of visible light around wavelength of 600 nm. Added LaB 6 particles with size of about 70 nm resulted in the best optical properties among these groups of composites. - Graphical abstract: 70 nm LaB 6 particles resulted in the best performance on absorption of VIS and NIR, which could not be apparently achieved by LaB 6 particles beyond nano-scale. Highlights: ► LaB 6 /PMMA composites were prepared using the method of in-situ polymerization. ► LaB 6 particles added in MMA prolonged the time needed for its pre-polymerization. ► Nanosized LaB 6 particles could obviously absorb much NIR but little VIS.

Effects of a large-scale micronutrient powder and young child feeding education program on the micronutrient status of children 6-24 months of age in the Kyrgyz Republic.

Science.gov (United States)

Serdula, M K; Lundeen, E; Nichols, E K; Imanalieva, C; Minbaev, M; Mamyrbaeva, T; Timmer, A; Aburto, N J

2013-07-01

To combat iron and other micronutrient deficiencies, the Ministry of Health of the Kyrgyz Republic launched a regional Infant and Young Child Nutrition (IYCN) program in 2009, which included promotion of home fortification with micronutrient powder (MNP) containing iron (12.5 mg elemental iron), vitamin A (300 μg) and other micronutrients. Every 2 months children aged 6-24 months were provided 30 sachets to be taken on a flexible schedule. The objective was to assess biochemical indicators of iron and vitamin A status among children aged 6-24 months at the baseline and follow-up surveys. Cross-sectional representative cluster surveys were conducted in 2008 (n=571 children) and 2010 (n=541). Data collected included measurement of hemoglobin, serum ferritin, soluble transferrin receptor (sTfR), retinol-binding protein, C-reactive protein (CRP) and α1-glycoprotein acid (AGP). Among all children, declines were observed in the prevalence of: anemia, 50.6% versus 43.8% (P=0.05); total iron deficiency (either low ferritin or high sTfR), 77.3% versus 63.7% (P<0.01); and iron deficiency anemia, 45.5% versus 33.4% (P<0.01). Among children without inflammation as measured by CRP and AGP, similar declines were observed, but only declines in total iron deficiency and iron deficiency anemia reached statistical significance. Among all children and those without inflammation, the prevalence of vitamin A deficiency remained the same. One year after the introduction of home fortification with MNP, within a larger IYCN program, the prevalence of anemia, iron deficiency and iron deficiency anemia declined, but vitamin A deficiency remained unchanged.

Experimental Status of b -> s(d) gamma Decays

Energy Technology Data Exchange (ETDEWEB)

Di Lodovico, F

2004-02-05

Radiative penguin decays provide an indirect probe for physics beyond the Standard Model and contribute to the determination of the CKM matrix elements. Copious quantities of B mesons produced at the B-Factories permit precision measurements of radiative penguin decays. We review the experimental status of the radiative penguin processes b {yields} s(d){gamma}.

Iron status determination in pregnancy using the Thomas plot.

Science.gov (United States)

Weyers, R; Coetzee, M J; Nel, M

2016-04-01

Physiological changes during pregnancy affect routine tests for iron deficiency. The reticulocyte haemoglobin equivalent (RET-He) and serum-soluble transferrin receptor (sTfR) assay are newer diagnostic parameters for the detection of iron deficiency, combined in the Thomas diagnostic plot. We used this plot to determine the iron status of pregnant women presenting for their first visit to an antenatal clinic in Bloemfontein, South Africa. Routine laboratory tests (serum ferritin, full blood count and C-reactive protein) and RET-He and sTfR were performed. The iron status was determined using the Thomas plot. For this study, 103 pregnant women were recruited. According to the Thomas plot, 72.8% of the participants had normal iron stores and erythropoiesis. Iron-deficient erythropoiesis was detected in 12.6%. A third of participants were anaemic. Serum ferritin showed excellent sensitivity but poor specificity for detecting depleted iron stores. HIV status had no influence on the iron status of the participants. Our findings reiterate that causes other than iron deficiency should be considered in anaemic individuals. When compared with the Thomas plot, a low serum ferritin is a sensitive but nonspecific indicator of iron deficiency. The Thomas plot may provide useful information to identify pregnant individuals in whom haematologic parameters indicate limited iron availability for erythropoiesis. © 2015 John Wiley & Sons Ltd.

L-Cysteine in vitro can restore cellular glutathione and inhibits the expression of cell adhesion molecules in G6PD-deficient monocytes.

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Parsanathan, Rajesh; Jain, Sushil K

2018-04-06

L-Cysteine is a precursor of glutathione (GSH), a potent physiological antioxidant. Excess glucose-6-phosphate dehydrogenase (G6PD) deficiency in African Americans and low levels of L-cysteine diet in Hispanics can contributes to GSH deficiency and oxidative stress. Oxidative stress and monocyte adhesion was considered to be an initial event in the progression of vascular dysfunction and atherosclerosis. However, no previous study has investigated the contribution of GSH/G6PD deficiency to the expression of monocyte adhesion molecules. Using human U937 monocytes, this study examined the effect of GSH/G6PD deficiency and L-cysteine supplementation on monocyte adhesion molecules. G6PD/GSH deficiency induced by either siRNA or inhibitors (6AN/BSO, respectively) significantly (p adhesion molecules (ICAM-1, VCAM-1, SELL, ITGB1 and 2); NADPH oxidase (NOX), reactive oxygen species (ROS) and MCP-1 were upregulated, and decreases in levels of GSH, and nitric oxide were observed. The expression of ICAM-1 and VCAM-1 mRNA levels increased in high glucose, MCP-1 or TNF-α-treated G6PD-deficient compared to G6PD-normal cells. L-Cysteine treatment significantly (p adhesion molecules. Thus, GSH/G6PD deficiency increases susceptibility to monocyte adhesion processes, whereas L-cysteine supplementation can restore cellular GSH/G6PD and attenuates NOX activity and expression of cell adhesion molecules.

Hypomethylation of serum blood clot DNA, but not plasma EDTA-blood cell pellet DNA, from vitamin B12-deficient subjects.

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Eoin P Quinlivan

Full Text Available Vitamin B12, a co-factor in methyl-group transfer, is important in maintaining DNA (deoxycytidine methylation. Using two independent assays we examined the effect of vitamin B12-deficiency (plasma vitamin B12<148 pmol/L on DNA methylation in women of childbearing age. Coagulated blood clot DNA from vitamin B12-deficient women had significantly (p<0.001 lower percentage deoxycytidine methylation (3.23±0.66%; n = 248 and greater [3 H]methyl-acceptance (42,859±9,699 cpm; n = 17 than DNA from B12-replete women (4.44±0.18%; n = 128 and 26,049±2,814 cpm; n = 11 [correlation between assays: r = -0.8538; p<0.001; n = 28]. In contrast, uncoagulated EDTA-blood cell pellet DNA from vitamin B12-deficient and B12-replete women exhibited similar percentage methylation (4.45±0.15%; n = 77 vs. 4.47±0.15%; n = 47 and [3 H]methyl-acceptance (27,378±4,094 cpm; n = 17 vs. 26,610±2,292 cpm; n = 11. Therefore, in simultaneously collected paired blood samples, vitamin B12-deficiency was associated with decreased DNA methylation only in coagulated samples. These findings highlight the importance of sample collection methods in epigenetic studies, and the potential impact biological processes can have on DNA methylation during collection.

Dietary pyridoxine deficiency reduced growth performance and impaired intestinal immune function associated with TOR and NF-κB signalling of young grass carp (Ctenopharyngodon idella).

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Zheng, Xin; Feng, Lin; Jiang, Wei-Dan; Wu, Pei; Liu, Yang; Jiang, Jun; Kuang, Sheng-Yao; Tang, Ling; Tang, Wu-Neng; Zhang, Yong-An; Zhou, Xiao-Qiu

2017-11-01

The objective of this study was to evaluate the effects of dietary pyridoxine (PN) deficiency on growth performance, intestinal immune function and the potential regulation mechanisms in young grass carp (Ctenopharyngodon idella). Fish were fed six diets containing graded levels of PN (0.12-7.48 mg/kg) for 70 days. After that, a challenge test was conducted by infection of Aeromonas hydrophila for 14 days. The results showed that compared with the optimal PN level, PN deficiency: (1) reduced the production of innate immune components such as lysozyme (LZ), acid phosphatase (ACP), complements and antimicrobial peptides and adaptive immune components such as immunoglobulins in three intestinal segments of young grass carp (P TOR) signalling [TOR/ribosomal protein S6 kinases 1 (S6K1) and eIF4E-binding proteins (4E-BP)] in three intestinal segments of young grass carp; (3) up-regulated the mRNA levels of pro-inflammatory cytokines such as tumour necrosis factor α (TNF-α) [not in the proximal intestine (PI) and distal intestine (DI)], IL-1β, IL-6, IL-8, IL-12p35, IL-12p40, IL-15 and IL-17D [(rather than interferon γ2 (IFN-γ2)] partly relating to nuclear factor kappa B (NF-κB) signalling [IκB kinase β (IKKβ) and IKKγ/inhibitor of κBα (IκBα)/NF-κB (p65 and c-Rel)] in three intestinal segments of young grass carp. These results suggest that PN deficiency could impair the intestinal immune function, and the potential regulation mechanisms were partly associated with TOR and NF-κB signalling pathways. In addition, based on percent weight gain (PWG), the ability against enteritis and LZ activity, the dietary PN requirements for young grass carp were estimated to be 4.43, 4.75 and 5.07 mg/kg diet, respectively. Copyright © 2017. Published by Elsevier Ltd.