deficiency has been observed widespread amongst heart failure (HF) patients, which could have harmful effects on their health condition. This study aims to investigate the effect of vitamin D supplements on blood pressure (BP) and physical activity of HF patients. Thirty-nine systolic HF patients with low ejection fraction (EF) < 50% and class III of New York Heart Association functional classification were randomly divided into 2 groups including intervention and placebo to enroll in an 8 weeks double-blind clinical trial. During the trial 6-minute walk test (6MWT), 25-hydroxyvitamin D (25[OH]D) level, BP, sodium and potassium intakes were assessed. The mean 25(OH)D level increased to 28.9 ± 11.7 ng/mL (p < 0.001) in the intervention group. There was a poor but non-significant reduction in systolic BP (−0.033 ± 4.71 mmHg, p = 0.531) in the intervention group. The BP also did not change in the placebo group at the end of the trial. A negligible decrease of 6MWT was observed in the intervention group (−6.6 ± 29.2 m) compared to the placebo (−14.1 ± 40.5 m). However, differences between the 2 groups were not statistically significant (p = 0.325). The results solely showed a slight positive correlation between 25(OH)D level and 6MWT. No significant improvements in BP and 6MWT were observed after vitamin D3 supplementation.TRIAL REGISTRATION: Iranian Registry of Clinical Trials Identifier: IRCT2016102113678N13]]>
Blood Pressure ; Cholecalciferol ; Classification ; Endothelial Cells ; Exercise Test ; Exercise Tolerance ; Heart Failure ; Heart ; Humans ; Motor Activity ; Myocytes, Cardiac ; Potassium ; Sodium ; Vitamin D ; Vitamin D Deficiency ; Vitamins

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is an inborn error of bile acid metabolism caused by mutations of SLC10A1 gene. This paper reports the clinical and genetic features of a patient with this disease. A 3.3-month-old male infant was referred to the hospital with the complaint of jaundiced skin and sclera over 3 months. Physical examination revealed moderate jaundice of the skin and sclera. The liver was palpable 3.5 cm below the right subcostal margin with a medium texture. Serum biochemistry analysis revealed markedly elevated bilirubin (predominantly direct bilirubin) and total bile acids (TBA), as well as decreased 25-OH-VitD level. On pathological analysis of the biopsied liver tissue, hepatocyte ballooning and cholestatic multinucleate giant cells were noted. The lobular architecture was distorted. Infiltration of inflammatory cells, predominantly lymphocytes, was seen in the portal tracts. In response to the anti-inflammatory and liver protective drugs as well as fat-soluble vitamins over 2 months, the bilirubin and transaminases levels were improved markedly while the TBA kept elevated. Because of persisting hypercholanemia on the follow-up, SLC10A1 gene analysis was performed at his age of 17.2 months. The child proved to be a homozygote of the reportedly pathogenic variant c.800C>T (p. Ser267Phe), while the parents were both carriers. NTCP deficiency was thus diagnosed. The infant was followed up until 34.3 months old. He developed well in terms of the anthropometric indices and neurobehavioral milestones. The jaundice disappeared completely. The liver size, texture and function indices all recovered. However, the hypercholanemia persisted, and the long-term outcome needs to be observed.
Humans ; Infant ; Male ; Organic Anion Transporters, Sodium-Dependent ; deficiency ; genetics ; Symporters ; deficiency ; genetics

Sodium taurocholate cotransporting polypeptide (NTCP) deficiency is caused by SLC10A1 mutations impairing the NTCP function to uptake plasma bile salts into the hepatocyte. Thus far, patients with NTCP deficiency were rarely reported. The patient in this paper was a 5-month-19-day male infant with the complaint of jaundiced skin and sclera for 5.5 months as well as abnormal liver function revealed over 4 months. His jaundice was noticed on the second day after birth, and remained visible till his age of 1 month and 13 days, when a liver function test unveiled markedly elevated total, direct and indirect bilirubin as well as total bile acids (TBA). Cholestatic liver disease was thus diagnosed. Due to unsatisfactory response to medical treatment, the patient underwent exploratory laparotomy, cholecystostomy and cholangiography when aged 2 months. This revealed inspissated bile but unobstructed bile ducts. Thereafter, his jaundice subsided, but the aminotransferases and TBA levels gradually rose. Of note, his mother also had mildly elevated plasma TBA. Since the etiology was unclear, no specific medication was introduced. The infant has been followed up over 2 years. The aminotransferases recovered gradually, but TBA levels fluctuated within 23.3-277.7 μmol/L (reference range: 0-10 μmol/L). On SLC10A1 genetic analysis at 2 years and 9 months, both the infant and his mother proved to be homozygous for a pathogenic variant c.800C>T(p.S267F), and NTCP deficiency was thus definitely diagnosed. The findings suggest that, although only mildly increased plasma TBA is presented in adults with NTCP deficiency, pediatric patients with this disorder exhibit persistent and remarkable hypercholanemia, and some patients might manifest as cholestatic jaundice in early infancy.
Humans ; Infant ; Jaundice, Obstructive ; etiology ; Male ; Organic Anion Transporters, Sodium-Dependent ; blood ; deficiency ; genetics ; Symporters ; blood ; deficiency ; genetics

PURPOSE: Vitamin D is associated with various pathological conditions such as cardiovascular diseases and cancer. We investigated the relationship between vitamin D and Kawasaki disease (KD). METHODS: We performed a retrospective review of the medical records of patients with KD between February 2013 and March 2016 in Daegu Fatima Hospital. Study participants were grouped according to vitamin D serum concentration. Group 1 included patients with 25(OH)-vitamin D ≥20 ng/mL. Group 2 included patients with 25(OH)-vitamin D <20 ng/mL. We analyzed the clinical characteristics and laboratory data of the 2 groups. RESULTS: Of the 91 patients, 52 were included in group 1, and 39 in group 2. Group 1 patients had significantly higher levels of calcium, phosphate, albumin and sodium than group 2 patients did. There were no differences in clinical characteristics, but the proportion of patients with polymorphic rash was significantly higher in group 2. Resistance to intravenous immunoglobulin was more frequent in group 2 (P=0.023). No significant difference in the incidence of coronary artery complications was observed. CONCLUSION: Low vitamin D levels are associated with resistance to intravenous immunoglobulin therapy in KD. Vitamin D deficiency might be a risk factor for immunoglobulin resistance in KD.
Calcium ; Cardiovascular Diseases ; Coronary Vessels ; Daegu ; Exanthema ; Humans ; Immunization, Passive ; Immunoglobulins* ; Incidence ; Inflammation ; Medical Records ; Mucocutaneous Lymph Node Syndrome* ; Retrospective Studies ; Risk Factors ; Sodium ; Vitamin D Deficiency ; Vitamin D* ; Vitamins*

Bile Salt Export Pump (BSEP) Deficiency disease, including Progressive Familial Intrahepatic Cholestasis type 2 (PFIC2), is a rare disease, usually leading within the first ten years to portal hypertension, liver failure, hepatocellular carcinoma. Often liver transplantation is needed. Sodium 4-phenylbutyrate (4-PB) seems to be a potential therapeutic compound for PFIC2. Psychiatric side effects in the adolescent population are little known and little studied since the drug used to treat children and infants. So we described a case of Caucasian boy, suffering from a late onset PFIC2, listed for a liver transplant when he was sixteen and treated with 4-FB (200 mg per kilogram of body weight per day). The drug was discontinued for the onset of bipolar and related disorders. This case illustrates possible psychiatric side effects of the drug.
Adolescent* ; Bile* ; Bipolar and Related Disorders* ; Body Weight ; Carcinoma, Hepatocellular ; Child ; Cholestasis, Intrahepatic ; Deficiency Diseases* ; Humans ; Hypertension, Portal ; Infant ; Liver ; Liver Failure ; Liver Transplantation ; Male* ; Rare Diseases ; Sodium*

OBJECTIVETo assess the effect of different levels of salt iodine content on thyroid volume (ThV) distribution using data from the 1999, 2011, and 2014 Chinese national iodine deficiency disorder (IDD) surveys.

METHODSProbability proportion to size (PPS) sampling method was used to obtain a representative national sample of 34,547, 38,932, and 47,188 Chinese children aged 8-10 years in 1999, 2011, and 2014 Chinese national IDD surveys, respectively. The iodine content in household iodized salt and urinary iodine concentration were measured and thyroid ultrasound examination was performed. The data were analyzed by SAS software using histograms and box plots. The skewness and kurtosis were calculated for testing the normality of ThV.

RESULTSThe median iodine content in household iodized salt dropped from 42.30 mg/kg in 1999 to 25.00 mg/kg in 2014. The median urinary iodine concentration of children aged 8-10 years decreased from 306.0 μg/L in 1999 to 197.9 μg/L in 2014. The median and interquartile range (IQR) of ThV in 1999, 2011, and 2014 surveys were 3.44 mL and 1.50 mL, 2.60 mL and 1.37 mL, 2.63 mL and 1.25 mL, respectively. The skewness and kurtosis of ThV distribution in 1999, 2011, and 2014 surveys were 1.34 and 5.84, 0.98 and 3.54, 1.27 and 5.49, respectively.

CONCLUSIONWith reduced salt iodization levels, the median urinary iodine concentration and median ThV of children decreased significantly, and the symmetry of the ThV distribution improved.

Child ; China ; Female ; Humans ; Iodine ; analysis ; deficiency ; Male ; Nutritional Status ; Sodium Chloride, Dietary ; analysis ; Thyroid Gland ; diagnostic imaging ; Ultrasonography

Iodine, an essential component of the hormones produced by the thyroid gland, is widely but unevenly distributed in the earth's environment. Great difference exists in the iodine nutritional status of populations residing in different region. Both iodine deficiency and iodine excess can injure the thyroid gland. Iodine deficiency tigers endemic goiter, cretinism, and hyperthyroidism, while iodine excess can result in high iodine goiter, chronic lymphocytic thyroiditis, iodine-induced hyperthyroidism, and hypothyroidism; also, iodine deficiency or excess may affect the histological type of thyroid cancer. In 1996, China began to implement the universal salt iodization policy, which has basically eliminated the iodine deficiency disorders nationwide; however, it also caused the changes in the spectra of other thyroid diseases including iodine-induced hyperthyroidism, autoimmune thyroid disease, and papillary thyroid carcinoma. Individualized iodine nutritional status assessment for the populations, particularly those with thyroid diseases, will be beneficial.
China ; epidemiology ; Humans ; Iodine ; administration & dosage ; adverse effects ; deficiency ; Sodium Chloride, Dietary ; adverse effects ; Thyroid Diseases ; epidemiology ; etiology

Ornithine carbamoyltransferase (OTC) deficiency is a urea cycle disorder that causes the accumulation of ammonia, which can lead to encephalopathy. Adults presenting with hyperammonemia who are subsequently diagnosed with urea cycle disorders are rare. Herein, we report a case of a late-onset OTC deficient patient who was successfully treated with arginine, benzoate and hemodialysis. A 59-yr-old man was admitted to our hospital with progressive lethargy and confusion. Although hyperammonemia was suspected as the cause of the patient's mental changes, there was no evidence of chronic liver disease. A plasma amino acid and urine organic acid analysis revealed OTC deficiency. Despite the administration of a lactulose enema, the patient's serum ammonia level increased and he remained confused, leading us to initiate acute hemodialysis. After treatment with arginine, sodium benzoate and hemodialysis, the patient's serum ammonia level stabilized and his mental status returned to normal.
Age of Onset ; Ammonia/blood ; Arginine/therapeutic use ; Citrulline/blood ; Humans ; Hyperammonemia/*etiology ; Male ; Middle Aged ; Ornithine/blood ; Ornithine Carbamoyltransferase Deficiency Disease/complications/*diagnosis/drug therapy ; Pedigree ; Renal Dialysis ; Sodium Benzoate/therapeutic use

The importance of vitamin D for skeletal health is well known. Vitamin D deficiency causes secondary hyperparathyroidism, high bone turnover, bone loss, and osteoporotic fractures. We report a case of a 60-year-old women presenting with brown tumor in the proximal femur secondary to vitamin D deficiency and secondary hyperparathyroidism. She took calcium supplements and vitamin D3 for 1 year and half dose of risedronate was prescribed for 5 months. After 1 year, pain in the pelvis was much improved and Bone mineral density of the lumbar spine and femoral neck increased by 37% and 29%, respectively.
Bone Density ; Calcium ; Cholecalciferol ; Etidronic Acid ; Female ; Femur ; Femur Neck ; Humans ; Hyperparathyroidism ; Hyperparathyroidism, Secondary ; Middle Aged ; Osteoporosis ; Osteoporotic Fractures ; Pelvis ; Spine ; Vitamin D ; Vitamin D Deficiency ; Vitamins ; Risedronate Sodium

OBJECTIVETo evaluate dietary iodine intake and its potential risks among the Chinese population.

METHODSIndividual dietary iodine intake was calculated using food consumption data multiplying by iodine concentration in foods, table salt and drinking water, followed by summing, and then compared with the corresponding age-specific reference values, including Upper Intake Level (UL) and Recommended Nutrient Intake (RNI).

RESULTSIn areas with water iodine concentration (WI) lower than 150 μg/L, 80.8% of residents had iodine intake between the RNI and UL, 5.8% higher than UL, and the remaining (13.4%) lower than RNI if iodized salt was consumed. However, in the uniodized salt consumption scenario, only 1.0% of residents between RNI and UL, 1.4% higher than UL, and a large part of residents (97.6%) lower than RNI. In areas with WI higher than 150 μg/L, all residents had iodine intake between RNI and UL if iodized salt was consumed, except 10.5% and 24.9% of residents higher than UL in areas with WI at 150-300 μg/L and higher than 300 μg/L respectively. However, in the uniodized salt consumption scenario, only 1.5% and 1.7% of residents had higher iodine intake than UL respectively.

CONCLUSIONThe findings suggested that in general, the dietary iodine intake by the Chinese population was appropriate and safe at the present stage. People in areas with WI lower than 150 μg/L were more likely to have iodine deficiency. While people in areas with WI higher than 150 μg/L were more likely to have excessive iodine intake if iodized salt was consumed.

Adolescent ; Child ; Child, Preschool ; China ; epidemiology ; Diet ; Drinking Water ; chemistry ; standards ; Female ; Goiter ; epidemiology ; prevention & control ; Humans ; Iodine ; administration & dosage ; analysis ; deficiency ; Male ; Nutritional Status ; Sodium Chloride, Dietary ; administration & dosage ; analysis