AIMS: To evaluate the prevalence of DF in children residing in Salem and also to find any correlation between DF and other related factors.
MATERIALS AND METHODS: One school from each block of Salem (total 21 blocks) was selected for the study. A single examiner had evaluated untreated caries, lesions, and DF (for permanent anterior teeth and molars) using the Dean's fluorosis index, in all children. Water fluoride level determination at each school was done using the Tamil Nadu Water Fluoridation and Drainage Board field kit. Other factors that may have contributed to DF were assessed using a questionnaire, which was provided to each student. The data obtained were statistically analyzed using the SPSS software version 11.5.
STATISTICAL ANALYSIS: Chi-square test was used for statistical analysis.
RESULTS: DF was present in 56.9% of the children examined. It was mostly seen in 9 years old (72%) and male (59%) children. A positive correlation was found between the occurrence of DF and the duration of residence in a place with high water fluoride content, consumption of borewell water (64%), the parts per million of fluoride in drinking water, consumption of black tea (59%). However, no correlation was found between DF, dental caries, consumption of milk, or consumption of foods cooked in aluminum vessels.
CONCLUSION: There was a correlation between DF and factors such as male gender, bore well water consumption, black tea consumption and the duration of residence in a place with high water fluoride content.
OBJECTIVE: To elaborate on the clinical findings, biochemical data, molecular genetic analysis, and short-term prognosis of 13 GSD1a patients in Malaysia.
METHODS: The information about 13 clinically classified GSD1a patients was retrospectively studied. The G6PC mutation analysis was performed by PCR-DNA sequencing.
RESULTS: Patients were presented with hepatomegaly (92%), hypoglycaemia (38%), poor weight gain (23%), and short stature (15%). Mutation analysis revealed nine heterozygous mutations; eight previously reported mutations (c.155 A > T, c.209 G > A, c.226 A > T, c.248 G > A, c.648 G > T, c.706 T > A, c.1022 T > A, c.262delG) and a novel mutation (c.325 T > C). The most common mutation found in Malaysian patients was c.648 G > T in ten patients (77%) of mostly Malay ethnicity, followed by c.248 G > A in 4 patients of Chinese ethnicity (30%). A novel missense mutation (c.325 T > C) was predicted to be disease-causing by various in silico software.
CONCLUSIONS: The establishment of G6PC molecular genetic testing will enable the detection of presymptomatic patients, assisting in genetic counselling while avoiding the invasive methods of liver biopsy.
METHODS: Predialysis CKD patients were included in this cross-sectional study. Patient demographics, medical/medication histories, and laboratory parameters (serum 25-hydroxyvitamin D (25(OH)D), creatinine, phosphate (P), calcium, albumin, and intact-PTH (i-PTH)) were collected and compared among patients with various CKD stages. The association between 25(OH)D and these parameters was determined by multiple linear regression.
RESULTS: A total of 196 patients with mean ± SD eGFR of 26.4 ± 11.2 mL/min/1.73 m2 was included. Vitamin D deficiency (25(OH)D concentration < 15 ng/mL) and insufficiency (25(OH)D concentration 16 - 30 ng/mL) was found in 29.1% and 57.7% of the patients, respectively. Mean ± SD serum 25(OH)D was 20.8 ± 9.3 ng/mL. Female patients had lower vitamin D concentrations than males (16.9 ng/mL vs. 23.9 ng/mL; p < 0.001). Vitamin D levels were also higher in Chinese (22.3 ng/mL) than Malay (17.3 ng/mL) and Indian (13.1 ng/mL) patients (p < 0.05). Nonadjusted analyses showed higher i-PTH concentration in vitamin D deficient patients (p < 0.05).
CONCLUSION: Despite being a sun-rich country all year round, the majority (86.8%) of predialysis CKD patients in Singapore have suboptimal vitamin D status. Lower vitamin D concentrations were found in females and in those with darker skin tone. Vitamin D deficient patients also tended to have higher i-PTH levels.