X-linked dominant hypophosphatemic rickets are the most common form of familial hypophosphatemic rickets resulting from hypophosphatemia caused by renal phosphate wasting, which in turn is a result of loss-of-function mutations in PHEX. Herein, we report a 39-year-old female with short stature and skeletal deformities and 12-month-old asymptomatic daughter. The female has a history of multiple surgical treatments because of lower limb deformities. Her biochemical findings revealed low serum phosphorus levels with elevated serum alkaline phosphatase activity and normal serum calcium levels, suggesting presence of hypophosphatemic rickets. To identify the molecular causes, we used a multigene testing panel and found a mutation, c.667dup (p.Asp223GlyfsTer15), in PHEX gene. To the best of our knowledge, this is a novel mutation. A heterozygous form of the same variant was detected in daughter, who showed no typical symptoms such as bow legs, frontal bossing, or waddling gate, but presented early signs of impaired mineralization in both X-ray and biochemical findings. The daughter was initiated onto early medical treatment with oral phosphate supplementation and an active vitamin D analog. Because the daughter was genetically diagnosed based on a family history before the onset of symptoms, appropriate medical management was possible from early infancy.
The prevalence of iron deficiency in later infancy and the toddler years(25% to 40% at 1 year of age) has not decreased remarkably , except in Western countries. The purpose of this study was to 1) determine the relationship between current feeding practices and iron status, and 2) assess compliance to infant feeding instructions. Two groupsof infants were examined. The first group of 302 infants aged 6 to 24months was seen at a well baby clinic while the second group of 135 infants of the same age group was assessed by venipuncture. Cutoff values for laboratory tests were as follows ; hemoglobin<11g/dL, mean corpuscular volume (MCV) <72fl ; red cell distribution width(RDW)>15% ; serum ferritin level<10ng/ml ; and transferrin saturation (serum iron(TIBC)<10%. The diagnosis of iron deficiency anemia (IDA) was made when a low hemoglobin level was associated with either low ferritin orlow transferrin saturation . Of the 302 children brought to the well baby clinic , 12.3%(n=37) were found to have anemia (hemoglobin<11.0/dL). In terms of children grouped according to feeding practices, it was found that children with anemial comprised 32.0% (24/75) of the prolonged breast-fed group (Group A), significantly more than the 4.0%(7/176) of the artificial milk feeding group(Group B). and 3.9%(2/51) of the switched from breast milk to iron -fortified weaning foods group(Group C).Among the 107 children with IDA , iron deficiency in 105 children(98.1%) was suggested by their dietary histories ; exclusive or prolonged breast-feeding for more than 6 months without iron fortification in 98 infants ; cow's milk consumption> 500ml/day without iron fortification during infancy(n=12), or >800ml without iron-fortified foods after infancy(n=15) ; and the use of unfortified forumula or unbalanced diets, mainly limited to rice gruel. Despite the relatively high (79.6%) motivation on the part of the infants mothers and supervison by professional personnel, the poor results in the infants receiving iron fortified foods were due to poor compliance(85.75). Among the mothers of 98 IDA patients who were contacted by telephone , it was revealed that 29% did not give the oral iron preparation for more than 2 months. Furthermore, negligence or disregard by the parents occurred in 14% of the case , discontinuance of the oral iron preparation by the parents due to side effects occurred in 6%, and the children's refusal or poor oral intake and no further trial occurred in 6%. The dietary history of a large group of infants was highly predictive of their risk for anemia . Continued consumption of breast milk until the age of 1 year is not warranted unless iron-fortified foods are given concomitantly. Because there is a problem with compliance, more successful and safe strategies for preventing iron deficiency woold included dual coverage in the from of therapeutic iron supplementation as well use of iron-fortified foods for teddlers who are at risk of iron deficiency.
This study was aimed at evaluating the effect of red-yeast-rice supplementation on cholesterol-lowering and glucose control in subjects with impaired fasting glucose (IFT) or impaired glucose tolerance (IGT). We conducted a doubleblind, placebo-controlled study with 3 groups; placebo, low dose group (red yeast rice 210.0mg/capsule, 2.52g/day) and high dose group (red yeast rice 420.0mg/capsule, 5.04g/day), which were randomly assigned to subjects with impaired fasting glucose or impaired glucose tolerance. We measured fasting serum concentrations of total-, LDL-, HDL-cholesterol, triglyceride, glucose, insulin, free fatty acid (FFA) and 2 h oral glucose tolerence test (OGTT) before and after the supplementation. Both low dose and high dose groups had significant decrease in LDL cholesterol and atherogenic index (AI) compared with placebo group (p<0.05). Additionally, total and HDL cholesterol improved significantly in high dose group compared with placebo group (p<0.05). Fasting serum glucose decreased in test groups and increased in placebo group after intervention. However, it was not significant differences. In subjects which fasting blood glucose is more than 110mg/dL, fasting glucose had a tendency to decrease in high dose group (p<0.1) and Hemoglobin A1c (HbA1c) had significant decrease in low dose group (p<0.05), while insulin and HOMA-IR had a tendency to increase in placebo group after intervention. Mean changes of glucose related parameters (fasting glucose, insulin, HOMA-IR) compared with placebo group did not show significant differences. In conclusion, subjects with impaired fasting glucose or impaired glucose tolerance were significantly improved in serum lipid profile by red yeast rice supplementation without serious side effects. These are more effective in the case of a high dose. The effects of red yeast rice supplementation on glucose control were insignificant.
Two field studies were conducted to determine the efficacy of difructose anhydride III (DFA III) as a supplement in colostrum replacer (CR) for improving the general health status (judged on the basis of incidence of enteritis, bronchitis, and pneumonia) of group-housed suckling Japanese Black calves. In a preliminary study, CR supplemented with DFA III (6 g) was orally administered within 24 h of calving to eight individually reared calves fed colostrum (DFA III group) (Exp. 1). Subsequently, CR supplemented with DFA III (6 g) was orally administered twice within 2 and 12 h of calving to four calves (DFA III group) that were not fed colostrum (Exp. 2). In both experiments, the health status of the calves was assessed during the preweaning period. In Exp. 2, hematological and blood-chemistry parameters were analyzed 24 h after the second administration of CR and at 1 wk and 1 month after calving. The results were compared between the DFA III and control groups (without DFA III supplementation; Exp. 1: n = 10, Exp. 2: n = 4). In Exp. 1, the number of calves requiring medications for the treatment of enteritis, bronchitis, and pneumonia during the preweaning period was significantly (p<0.05) lower in the DFA III group than in the control group. In Exp. 2, supplementation of DFA III did not influence the gain in body weight of calves during the pre-weaning period. Calves in the DFA III group tended to require medications for a shorter duration than those in the control group (DFA III: 10.3 d/calf, control: 21.3 d/calf; p = 0.07). Significant differences (p<0.05) in the level of mean corpuscular hemoglobin, total protein, total cholesterol, and immunoglobulin (Ig)G were observed between the DFA III and control groups. These differences probably reflect the health and nutritional status of the calves. Additionally, the serum iron and lactoferrin concentrations at 24 h and 1 wk after calving, respectively, differed significantly between the 2 groups. These concentrations might reflect the incidence of infections after calving. The present study revealed that the administration of DFA III as a CR supplement may prevent diseases in group-housed calves during the pre-weaning period.
The purpose of this study was to investigate the effects of glucuronic acid on antioxidative defense system and recovery of muscle fatigue in rat artier aerobic exercise. Sprague-Dawley male rats weighing 150 $\pm$ 10g were randomly assigned to one normal(N) group and three exercise training groups. Exercise training groups were classified into glucuronic acid free intubation group(T group), 250mg glucuronic acid/kg bw intubation group(TU group), and 500 mg glucuronic acid/kg bw intubation group(2TU group) according to glucuronic acid supplementation level. The glucuronic acids were administered to rats by oral intubation before exercise training. The experimental rats in exercise training groups(T, TU and 2TU) were exercised on glucuronic acid supplementation or rats in normal group were confined in cage for 4 weeks. And rats were sacrificed with an overdose of pentobarbital injection just after running. Liver xanthine oxidase(XOD) activities were not significantly different among four groups. The activity of superoxide dismutase(SOD) in T group was no significant difference from N group, but those of TU and 2TU groups were increased by 9% and 18%, respectively, compared with that of T group. Liver glutathione peroxidase(GSHpx) activites of T and TU groups showed a similar tendency to that of normal group, but increase 17% in 2TU group compared with normal group. The ratio of GSH/GSSG in liver of T group was lower than that of normal group, but those of TU and 2TU groups were a similar tendency to that of normal group. Contents of thiobarbituric acid reactive substance(TBARS) in T group was increased by 47%, compared with that of normal group but those of TU group and 2TU group were lower 27% and 35%, respectively, compared with that of T group. The contents of glycogen in soleus muscle significantly lower in all three trained exercise groups than that of normal group, but there were no significant differences among the trained exercise groups. Contents of hepatic glycogen in T group were decreased 27% compared with those of normal group while those of TU and 2TU groups were the same as normal group levels. The contents of serum lactic acid in T group were increased 240% of normal group, but hose of TU and 2TU groups were decreased 38%, 39%, respectively, by glucuronic acid supplementations, compared with that of T group. In conclusion, the effects of glucuronic acids in exercise training rats would appear to reduce peroxidation of tissue as an antioxidative defense mechanism and promote recovery of muscle fatigue.
BACKGROUND/OBSECTIVE: Airway inflammation by eosinophils, neutrophils and alveolar macrophages is a characteristic feature of asthma that leads to pathological subepithelial thickening and remodeling. Our previous study showed that oxidative stress in airways resulted in eosinophilia and epithelial apoptosis. The current study investigated whether glutathione-containing dry yeast extract (dry-YE) ameliorated eosinophilia, goblet cell hyperplasia and mucus overproduction. MATERIALS/METHOD: This study employed $2{\mu}g$/mL lipopolysaccharide (LPS)- or 20 ng/mL eotaxin-1-exposed human bronchial epithelial cells and ovalbumin (OVA)-challenged mice. Dry-YE employed in this study contained a significant amount of glutathione (140 mg in 100 g dry yeast). RESULTS: Human bronchial epithelial cell eotaxin-1 and mucin 5AC (MUC5AC) were markedly induced by the endotoxin LPS, which was dose-dependently attenuated by nontoxic dry-YE at 10-50 ${\mu}g$/mL. Moreover, dry-YE inhibited the MUC5AC induction enhanced by eotaxin-1, indicating that eotaxin-1-mediated eosinophilia may prompt the MUC5AC induction. Oral supplementation with 10-100 mg/kg dry-YE inhibited inflammatory cell accumulation in airway subepithelial regions with a reduction of lung tissue level of intracellular adhesion molecule-1. In addition, ${\geq}50$ mg/kg dry-YE diminished the lung tissue levels of eotaxin-1, eosinophil major basic protein and MUC5AC in OVA-exposed mice. Alcian blue/periodic acid schiff staining revealed that the dry-YE supplementation inhibited goblet cell hyperplasia and mucus overproduction in the trachea and bronchiolar airways of OVA-challenged mice. CONCLUSIONS: Oxidative stress may be involved in the induction of eotaxin-1 and MUC5AC by endotoxin episode and OVA challenge. Dry-YE effectively ameliorated oxidative stress-responsive epithelial eosinophilia and mucus-secreting goblet cell hyperplasia in cellular and murine models of asthma.
This study was designed to test the effect of Korean traditional tea materials on oxygen-free radical metabolism in lead (Pb) -administered rats. Male rats were divided into normal, Pb-control (Pb-Con) and Pb-water extract of green tea (Camellia sinensis; GT) , persimmon leaf (Diospyros kaki; PL) , safflower seed (Carhamus tinctorius: SS) , Du-Zhong (Eucommia ulmoides; EU) groups, respectively. Pb intoxication was induced by administration of lead acetate (25 mg/kg. B.W., oral) weekly. The extract was administered based on 1.26 g of raw material/kg B.W./day for 4 weeks. When the GT, PL, SS and EU were supplemented to the Pb-administered rats, hepatic lipid peroxide levels were significantly lower compared to the Pb-Con group. Hepatic cytochrom P-450 content and aminopyrine N-demethylase activity was lower in the Pb-Con group than in the normal group, whereas xanthine oxidase activity was significantly elevated in Pb-administered rats. The water extract of GT, PL, SS and EU supplementation attenuated changes in enzyme activities generating reactive oxygen species in the liver. Hepatic superoxide dismutase, catalase and glucose 6-phosphate dehydrogenase activities were significantly higher in the Pb-Con group than in the normal group, while monoamine oxidase activity also tended to increase in the Pb-administered rats. However, glutathione peroxidase and glutathione S-transferase activities, and glutathione content significantly decreased through Pb intoxication. The supplementation of GT, PL, SS and EU induced alleviation changes of hepatic antioxidant enzyme activity.
Acrodermatitis enteropathica (AE) is a rare autosomal recessive disorder of early infancy, and is characterized by periorificial dermatitis, alopecia, and intractable diarrhea. Serum zinc levels are usually low in untreated patients and the oral administration of zinc sulfate can clear skin lesions and other symptoms. Although premature and cow's milk-fed infants are at particular risk of developing AE, there have been a few reports about AE in term and breast-fed infants. We report a case of transient AE in a 4-month-old breast-fed infant. This patient suffered from diarrhea and dermatitis for more than a month. Her skin lesions were erythematous, scaly, crusted, psoriasiform, eczematous, with an eruption at the chin, and a periorificial disposition with involvement of the flexural areas of lower extremities. Her serum zinc level was almost normal at $129{\mu}g/dL$ (reference range: $60-121{\mu}g/dL$), but the zinc level in her hair was low: 8 mg percent (reference range: 10-21 mg percent). Skin biopsy findings were consistent with AE. Seven days after zinc supplementation, the skin lesions and diarrhea improved. The authors recommend that a clinical trial of zinc supplementation be considered in cases where there are suspicious of AE, even when the serum zinc level is normal.
Wang, Yujue;Huang, Mengwei;Yang, Xiaofeng;Yang, Zhongmei;Li, Lingling;Mei, Jie
The Korean Journal of Physiology and Pharmacology
/
v.22
no.4
/
pp.409-417
/
2018
Pre-eclampsia (PE) is a pregnancy disorder that is characterised by severe hypertension and increased risks of foetal and maternal mortality. The aetiology of PE not completely understood; however, maternal nutrition and oxidative stress play important roles in the development of hypertension. The treatment options for PE are currently limited to anti-hypertensive drugs. Punicalagin, a polyphenol present in pomegranate juice, has a range of bioactive properties. The effects of supplementation with punicalagin on angiogenesis and oxidative stress in pregnant rats with induced hypertension were investigated. The pregnant rats were randomly divided into five experimental groups (n=12 per group). Hypertension was induced using an oral dose of NG-nitro-L-arginine methyl ester (L-NAME, 50 mg/kg/day) on days 14-19 of pregnancy. Punicalagin (25, 50 or 100 mg/kg) was given orally on days 14-21 of pregnancy. Punicalagin treatment at the tested doses significantly reduced diastolic, systolic, and mean arterial blood pressure in L-NAME treated rats from day 14. Punicalagin also restored angiogenic balance by increasing the expression of vascular endothelial growth factor and downregulating vascular endothelial growth factor receptor-1/fms-like tyrosine kinase-1. Punicalagin, significantly increased the placental nitric oxide levels as compared to PE group. The increased levels of oxidative stress in rats with PE were markedly decreased by treatment with punicalagin. Punicalagin at the tested doses markedly (p<0.05) enhanced the placental antioxidant capacity in L-NAME-treated rats. The raised catalase activity observed following L-NAME induction was significantly (p<0.05) and restored to normal activity levels in punicalagin treatment. Further, 100 mg dose of punicalagin exhibited higher protective effects as compared to lower doses of 25 and 50 mg. This study shows that supplementation with punicalagin decreased blood pressure and oxidative stress and restored angiogenic balance in pregnant rats with induced PE.
In order to investigate the types of enteral nutrition formulas currently used in hospitals and evaluate and categorize the commercially prepared enteral nutrition formulas formulas available in the domestic market, we asked dietitians working in 6 hospitals in Seoul to complete the questionnaire and obtained compositional characteristics of 12 commercially prepared enteral nutrition formulas. The average proportion of patients receiving the commercially prepared enteral nutrition formulas(60.6%) was greater than that of patients receiving the in-hospital preparations(31.9%). In the group of patients receiving the in-hospital prepared formulas, the enteral feeding was mainly administered orally, whereas, in the group of patients receiving the commercially prepared formulas, tube feeding was the primary route of formula administration. In both groups, however, a greater proportion of patients received the formulas as total replacements of their meals and for the purpose of dietary supplementation. On the basis of major criteria for evaluation of the commercially prepared enteral nutrition formulas, the 6 products out of the 9 nutritionally complete products formulated for the purpose of dietary supplementation were grouped into the same category(standard protein, caloric density of 1kcal/ml, and tube/oral), so they were considered therapeutically comparable. However, the remaining 3 products were different in protein content(high protein) or route of administration(tube only). Of the 3 nutritionally complete products formulated specifically for the purpose of dietary therapy, 2 products were formulated for patients with renal disease, and the one product was formulated for diabetic patients. Therefore, the data in this study showed that the commercially prepared enteral nutriton formulas became an important part of the enteral nutrition for hospitalized patients in Korea, but the domestic market has not yet generated a wide variety of the formulas, not providing many choices for clinicians to manage the diets for their patients. The results of this study would be helpful for clinicians in choosing appropriate products for their patients, for manufactures in developing new products, and for regulatory authorities to establish the regulation for the broad group of heterogeneous products that are marketed and will be developed as medical foods. In addition, the process of maintaining the categories for evaluation of the commercially prepared enteral nutrition formulas should be dynamic because new products may not reasonably fit any of the existing categories.
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