Precocious puberty in patients with Pompe disease
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Introduction The life expectancy of Pompe disease patients has increased due to improved neonatal screening and enzyme replacement therapy. Nevertheless, the potential effect of frequent medical device exposure on pubertal development in these patients is not well understood, so further investigation is warranted. Methods In this cross-sectional study, we assessed the growth and puberty of nine Pompe disease patients. In addition, to determine the effects of frequent plastic medical device exposure in these patients, we measured urinary phthalate metabolites before and one day after enzyme replacement therapy. Results Five out of nine patients (55%) with Pompe disease on enzyme replacement therapy had precocious puberty. Patients with precocious puberty had significantly shorter predicted adult heights compared to those with normal puberty ( p = 0.014). The levels of mono-2-ethylhexyl phthalate (MEHP) and mono(2-ethyl-5-carboxypentyl) phthalate (MECPP) increased after enzyme replacement therapy, but the average levels of phthalate metabolites did not significantly differ between patients with normal and precocious puberty. Conclusion Pompe disease patients on enzyme replacement therapy tend to have precocious puberty, which may reduce their adult height. There are no significant differences in urinary phthalate metabolites between normal and precocious puberty patients. Regular follow-up of growth and puberty in Pompe disease patients is important to improve their health outcomes.Phthalates are used as plasticizers in many products used in daily life worldwide. Due to industrial and economic developments, exposure among general population to phthalates may vary geographically and temporally. However, studies are lacking for investigating temporal changes in phthalate exposure in the Japanese population. In the present study, the temporal trends in exposure to various phthalates were assessed among a group of Japanese adult female population over 1993-2016 and derived associated risks. For this purpose, urine samples of healthy Japanese females in Kyoto, Japan (N = 132) collected in 1993, 2000, 2003, 2009, 2011, and 2016, were employed and measured for the concentrations of 18 phthalate metabolites. Over this period, the detection rates of mono(3-carboxypropyl) phthalate (MCPP) and monoisobutyl phthalate (MiBP) decreased, and the geometric means of the urinary concentrations of mono(2-ethyl-5-carboxypentyl) phthalate (MECPP), and mono(2-ethyl-5-oxohexyl) phthalate (MEOHP) showed a significant decreasing trend. Cumulative risk due to exposure to dibutyl phthalate (DBP), diisobutyl phthalate (DiBP), butyl benzyl phthalate (BBP), and di-2-ethylhexyl phthalate (DEHP) showed a dramatic decrease only between 1993 and 2000. The maximum hazard quotient (HQM) was attributed to DEHP in most subjects regardless of sampling year. This study showed the temporal trend of the exposure of Japanese females to several phthalate esters over two decades. As of the late 2010's, DEHP was still the predominant component of phthalate ester exposure in the population. The HI value, however, indicates that direct risk due to phthalate exposure was unlikely among the studied population.
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鄰苯二甲酸酯類做為塑化劑常廣泛使用於塑膠工業包裝材質上，因此可能透過不同方式的溶出而污染食物，其為內分泌干擾物質，已被證實與部份癌症發生及造成生殖毒性有關，然而，目前有關臺灣作物中塑化劑的殘留量研究，仍然不足，特別是對於調查未上市田間蔬菜及水果中含量。本研究係利用氣相及液相層析串聯式質譜儀，針對臺灣田間蔬菜及水果中鄰苯二甲酸丁基苯甲酯 (benzyl butyl phthalate, BBP)、鄰苯二甲酸二丁酯 (di-n-butyl phthalate, DBP)、鄰苯二甲酸二 (2-乙基己基) 酯 (di-2-ethylhexyl phthalate, DEHP)、鄰苯二甲酸二異癸酯 (diisodecyl phthalate, DIDP)、鄰苯二甲酸二異壬酯 (diisononyl phthalate, DINP) 及鄰苯二甲酸二辛酯(dinoctyl phthalate, DNOP) 等6種鄰苯二甲酸酯類含量測定。自2011年7月至12月止，直接由臺灣北中南三大蔬果產區各採集未包裝30件蔬菜及30件水果進行檢驗分析，樣品中計有12件蔬菜及5件水果樣品檢出含有鄰苯二甲酸二 (2-乙基己基) 酯塑化劑，殘留量分別為0.02-0.10 mg/kg及0.02-0.08 mg/kg，1件蔬菜樣品檢出鄰苯二甲酸二丁酯，殘留量為0.02 mg/kg，所有蔬果樣品檢出鄰苯二甲酸酯類含量皆低於臺灣衛生福利部食品藥物管理署訂立之食品篩檢值1.0 mg/kg。另以蔬果樣品中檢出鄰苯二甲酸酯類最高殘留量，與臺灣所訂定的每日耐受量參考值 (tolerable daily intake, TDI) 相較，國人經由食入未經包裝處理之蔬果而暴露於鄰苯二甲酸二 (2-乙基己基)酯類的量 (TDI for DEHP: 0.05 mg/kg bw/day)，分別佔每日耐受量參考值的1.08%和0.53%，食入未經包裝處理之蔬菜而暴露於鄰苯二甲酸二丁酯的量，則佔每日耐受量參考值的1.08% (TDI for DBP: 0.01 mg/kg bw/day)。由上述結果得知，國人可能食入含鄰苯二甲酸二 (2-乙基己基) 酯和鄰苯二甲酸二丁酯等塑化劑污染之蔬果，但臺灣栽種蔬果遭受鄰苯二甲酸酯類塑化劑污染情況並不嚴重，產地蔬果中6種鄰苯二甲酸酯類塑化劑濃度仍低於政府訂立之食品篩檢值。
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Central precocious puberty
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Diethyl phthalate
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Phthalates are chemicals widely used in industry and the consequences on human health caused by exposure to these agents are of significant interest currently. The urinary metabolites of phthalates can be measured and used as exposure markers for the assessment of the actual internal contamination of phthalates coming from different sources and absorbed by various ways. The purpose of this paper is to review the markers for exposure and risk assessment of phthalates such as di-methyl phthalate (DMP), di-ethyl phthalate (DEP), di-butyl phthalate (DBP), benzylbutyl phthalate (BBP), di-(2-ethylhexyl)phthalate (DEHP), di-(2-propylheptyl)phthalate (DPHP), di-iso-nonyl phthalate (DINP), di-n-octyl phthalate (DnOP) and di-iso-decyl phthalate (DIDP), and introduction of the analytical approach of three metabolomics data processing approaches that can be used for chemical exposure marker discovery in urine with high-resolution mass spectrometry (HRMS) data.
Phthalic acid
Diethyl phthalate
Dimethyl phthalate
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Benzhydryl compounds
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The objective of this study was to determine the level of phthalate ester plasticizers in Ethiope River water samples. Gas chromatography (GC) coupled with mass spectrometer (MS) was used to evaluate the levels of dimethyl phthalate (DMP), diethyl phthalate (DEP), dibuthyl phthalate (DBP), diethylhexyl phthalate (DEHP), buthylbenzyl phthalate (BBP), di-n-octyl phthalate (DnOP in the water samples. Range of total phthalate level in different locations fell between 0.74μg/L and 1.75μg/L. It was found that Sapele-1 and Sapele-2 had highest total phthalates concentrations. The highest concentrations of phthalates were DBP and DEHP, which is consistent with their common use in plastic materials and other industrial chemicals. It was found that the individual phthalates concentration was low but total phthalate levels were high in most stations. The results for phthalates in the water samples is low but there is the need to guide against an upward rise in the concentrations as these may pose grave environmental and health concern for people living downstream of the river. These results can be used as reference levels for future monitoring programs for pollution studies of the river.Keywords: phthalates, acid esters, plasticizers, Ethiope River, surface water, pollution
Plasticizer
Diethyl phthalate
Dimethyl phthalate
Dibutyl phthalate
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To determine the levels of the di-n-butyl phthalate and di-2-ethylhexyl phthalate in the serum of precocious girls in Shanghai, and study the development relationship between DBP, DEHP and precocious girls.The concentrations of two phthalates (di-n-butyl phthalate, DBP, di-2-ethylhexyl phthalate, DEHP) in serum of 110 precocious girls and 100 normal children were measured by using gas chromatography, in the same time, the volumes of the uteruses and ovaries for precocious girls and normal children were measured by B-ultrasound and then did correlation analysis between the concentrations of DBP, DEHP and the volumes of uteruses and ovaries of precocious girls.DBP and DEHP were detected for 27.3% and 22.7% in precocious girls respectively, DBP and DEHP were detected for only 4% and 3% in normal children respectively. From the ratio of DBP and DEHP in serum of precocious girls were higher than normal children. Precocious girls uteruses and ovaries volume were higher than those of normal children respectively (P < 0.05, P < 0.05). DBP in serum of precocious girls had positive correlation with the volumes of the uteruses (r = 0.456, P < 0.05), and had positive correlation with volumes of the ovaries (r = 0.378, P < 0.01). DEHP in serum of precocious puberty had positive correlation with the volumes of uteruses (r = 0.382, P < 0.05), and had positive correlation with volumes of ovaries (r = 0.689, P < 0.01).Precocious girls could be contaminated more severely than normal girls, and DBP, DEHP could influence the volumes of the uteruses and ovaries.
Positive correlation
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Human breast milk
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This study proposed a method for analysis of 10 phthalate esters compounds from wastewater treatment plant sludges. The analytical efficiency of GC-MS for of target compounds was verified by a standard mixture of phthalate esters. The response factors related to the respective internal standards from a five-point calibration curve quantified the phthalate esters in individual compounds. Based on the literature compiled by environmental agencies, new generation phthalate compounds have been developed, such as di-iso-nonyl phthalate (DiNP), di-iso-decyl phthalate (DiDP), as alternative to conventional phthalates. The analytical results showed that the total PAEs concentration was in the range from 7.4 to 138.6 mg kg-1 dw in these seven analyzed sludge samples. More, di-iso-nonyl phthalate (DiNP), di-iso-decyl phthalate (DiDP) and bis(2-ethylhexyl) phthalate (DEHP) contributed to over 99% of PAEs in the sludge. The correlation between total PAEs concentration in household and sewage flow treated at seven WWTPs and concentrations of DEHP, DiNP and DiDP was significant.
Dibutyl phthalate
Sewage sludge
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