Maternal exposure to diethylene glycol monomethyl ether: a possible role in the etiology of retrocaval ureter

Retrocaval ureter is a very rare condition. In light of the experimental studies, one of the etiologic factors seems to be maternal contact with diethylene glycol monomethyl ether or ethylene glycol monomethyl ether. A case of cardiovascular, skeletal, and retrocaval ureter anomalies caused by possible maternal contact while pregnant with these materials at her work in a textile factory is presented. J Pediatr Surg 37:E23.     

Alleles at the Nicastrin locus modify presenilin 1- deficiency phenotype

Presenilin 1 (PS1), presenilin 2, and nicastrin form high molecular weight complexes that are necessary for the endoproteolysis of several type 1 transmembrane proteins, including amyloid precursor protein (APP) and the Notch receptor, by apparently similar mechanisms. The cleavage of the Notch receptor at the "S3-site" releases a C-terminal cytoplasmic fragment (Notch intracellular domain) that acts as the intracellular transduction molecule for Notch activation. Missense mutations in the presenilins cause familial Alzheimer's disease by augmenting the "gamma-secretase" cleavage of APP and overproducing one of the proteolytic derivatives, the Abeta peptide. Null mutations in PS1 inhibit both gamma-secretase cleavage of APP and S3-site cleavage of the Notch receptor. Mice lacking PS1 function have defective Notch signaling and die perinatally with severe skeletal and brain deformities. We report here that a genetic modifier on mouse distal chromosome 1, coinciding with the locus containing Nicastrin, influences presenilin-mediated Notch S3-site cleavage and the resultant Notch phenotype without affecting presenilin-mediated APP gamma-site cleavage. Two missense substitutions of residues conserved among vertebrates have been identified in nicastrin. These results indicate that Notch S3-site cleavage and APP gamma-site cleavage are distinct presenilin-dependent processes and support a functional interaction between nicastrin and presenilins in vertebrates. The dissociation of Notch S3-site and APP gamma-site cleavage activities will facilitate development of gamma-secretase inhibitors for treatment of Alzheimer's disease.     

Are C‐reactive protein and homocysteine cardiovascular risk factors in obese children and adolescents?

Background: Several prospective epidemiological studies have demonstrated that high-sensitivity C-reactive protein (hsCRP) and plasma homocysteine (hcy) are predictors of future coronary events among healthy men and women. The aim of the present study was therefore to investigate a possible relationship between hsCRP, hcy levels and body mass index (BMI), relative weight (RW), serum leptin levels, and cardiovascular risk factors in obese children and adolescents.
Methods: The study involved 28 obese children and adolescents (13 girls, 15 boys; BMI>95‰ for age and sex), 4.5–15 years of age (mean 10.7 ± 0.6 years), who attended hospital for a basic obesity check-up. The association between hsCRP, hcy levels and BMI, RW, serum leptin levels, and cardiovascular risk factors such as blood pressure (BP), lipid profile, serum fasting insulin levels, and insulin resistance indexes, was investigated.
Results: Serum hsCRP level was positively correlated with BMI ( r = 0.512, P  < 0.01), RW ( r = 0.438, P  < 0.05), systolic and diastolic BP ( r = 0.498, P  < 0.01), serum leptin levels ( r = 0.457, P  < 0.05), but not with serum lipid, glucose, fasting insulin, plasma hcy levels or insulin resistance indexes. For hcy level, in contrast, no correlation was found with BMI, RW, systolic and diastolic BP, serum lipid levels, leptin, hsCRP, glucose, fasting insulin levels, or insulin resistance indexes.
Conclusions: hsCRP is correlated with BMI, RW, BP and leptin, which are risk factors for coronary heart disease, which supports the relationship between obesity, inflammation and atherosclerosis. hsCRP in childhood obesity might be a useful index to predict possible atherosclerotic events.     

Tumoral calcinosis: a case report

Tumoral calcinosis is a rare disorder with the calcified masses in subcutaneous tissues. We report herein a nine-year-old girl, in whom the calcified lesions bilaterally involved the soft tissues in the anterior part of the knee joint. Serum calcium and phosphorus levels were in normal ranges and there was no family history. Surgical excision was performed and recurrence was not observed in early follow-up. Review of the literature shows that only clinical and radiological appearance of tumoral calcinosis are generally agreed while its epidemiology, etiology and treatment are still under discussion.     

The relationship between mother and infant plasma trace element and heavy metal levels and the risk of neural tube defect in infants

Objective: To determine levels of trace elements [copper (Cu), zinc (Zn), selenium (Se), and cobalt (Co)] and heavy metals [arsenic (As), mercury (Hg), lead (Pb), and cadmium (Cd)] in the plasma of mothers and infants and investigate the relationship between those levels and neural tube defects (NTD).

Methods: A total of 100 neonates diagnosed with NTD and placed in the Neonatal Intensive Care Unit of Yuzuncu Yil University, Turkey between May 2013 and December 2016 comprised the study group. The control group consisted of 70 healthy neonates not diagnosed with NTD or any other congenital anomalies. For both the groups, mother and infant plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared. Plasma levels of Cu, Zn, Co, Cd, Se, Hg, As, and Pb were measured and compared between two groups of mothers and infants.

Findings: Mother and infant plasma levels of trace elements Zn and Se were determined to be significantly lower in the study group compared with the control group, while Cu levels were significant elevated in the study group (all p values p?p?>?.05). Differences in maternal age, birth weight, length of gestation, and infant gender for the two groups were also determined not to be statistically significant.

Results: High plasma levels of heavy metals As, Pb, and Cd and trace element Cu were identified as risk factors for the development of NTD. At the same time, low plasma levels of trace elements Zn and Se were also found to be risk factors for NTD. However, no association between Hg and Co plasma levels and increased risk for the development of NTD was observed. This study, while being the most comprehensive case study to date investigating the relationship between heavy metals and trace element levels and increased risk of NTD, nonetheless highlights the need for further research in order to make definite statements regarding this relationship.     

Protective effect of aqueous garlic extract against naphthalene-induced oxidative stress in mice

The aim of this study was to investigate the possible protective effects of aqueous garlic extract (AGE) against naphthalene-induced oxidative changes in liver, kidney, lung and brain of mice. Balb/c mice (25-30 g) of either sex were divided into five groups each comprising 10 animals. Mice received for 30 days: 0.9% NaCl, i.p. (control); corn oil, i.p; AGE in a dose of 125 mg kg-1, i.p.; naphthalene in a dose of 100 mg kg-1, i.p. (dissolved in corn oil); and AGE (in a dose of 125 mg kg-1, i.p.) plus naphthalene (in a dose of 100 mg kg-1, i.p.). After decapitation, liver, kidney, lung and brain tissues were excised. Malondialdehyde (MDA) and glutathione (GSH) levels and myeloperoxidase activity (MPO) were determined in the tissues, while oxidant-induced tissue fibrosis was determined by collagen content. Tissues were also examined microscopically. Serum aspartate aminotransferase, alanine aminotransferase levels and blood urea nitrogen and creatinine concentrations were measured for the evaluation of hepatic and renal function, respectively. MDA and GSH levels were also assayed in serum samples. In the naphthalene-treated group, GSH levels decreased significantly, while MDA levels, MPO activity and collagen content increased in the tissues (P<0.01-0.001), suggesting oxidative organ damage, which was also verified histologically. In the AGE-treated naphthalene group, all of these oxidant responses were reversed significantly (P<0.05-0.01). Hepatic and renal function test parameters, which increased significantly (P<0.001) following naphthalene administration, decreased (P<0.05-0.001) after AGE treatment. The results demonstrate the role of oxidative mechanisms in naphthalene-induced tissue damage. The antioxidant properties of AGE ameliorated oxidative organ injury due to naphthalene toxicity.     

A quantitative look at fluorosis, fluoride exposure, and intake in children using a health risk assessment approach

The prevalence of dental fluorosis in the United States has increased during the last 30 years. In this study, we used a mathematical model commonly employed by the U.S. Environmental Protection Agency to estimate average daily intake of fluoride via all applicable exposure pathways contributing to fluorosis risk for infants and children living in hypothetical fluoridated and nonfluoridated communities. We also estimated hazard quotients for each exposure pathway and hazard indices for exposure conditions representative of central tendency exposure (CTE) and reasonable maximum exposure (RME) conditions. The exposure pathways considered were uptake of fluoride via fluoridated drinking water, beverages, cow's milk, foods, and fluoride supplements for both age groups. Additionally, consumption of infant formula for infants and inadvertent swallowing of toothpaste while brushing and incidental ingestion of soil for children were also considered. The cumulative daily fluoride intake in fluoridated areas was estimated as 0.20 and 0.11 mg/kg-day for RME and CTE scenarios, respectively, for infants. On the other hand, the RME and CTE estimates for children were 0.23 and 0.06 mg/kg-day, respectively. In areas where municipal water is not fluoridated, our RME and CTE estimates for cumulative daily average intake were, respectively, 0.11 and 0.08 mg/kg-day for infants and 0.21 and 0.06 mg/kg-day for children. Our theoretical estimates are in good agreement with measurement-based estimates reported in the literature. Although CTE estimates were within the optimum range for dental caries prevention, the RME estimates were above the upper tolerable intake limit. This suggests that some children may be at risk for fluorosis.     

Case Report: A Case of Bladder Dysfunction due to Myasthenia Gravis

Detrusor underactivity, due to myasthenia gravis (MG) is extremely rare. Only 4 cases of de novo dysfunction have been reported. We report a case of detrusor underactivity and increased post-void residual urine in a woman with MG. The patient has been managed by clean intermittent catheterization 6 times a day.     

Endovascular stent graft treatment in a patient with splenic artery aneurysm

Splenic artery aneurysms are rare but important vascular lesions that constitute approximately 60% of all visceral arterial aneurysms. Splenic artery is the third most common localization of intraabdominal aneurysm formation. Rupture is the main complication that occurs in 3%-10% of the cases. We describe a case with a proximal splenic artery aneurysm. To preserve splenic function and reduce the risk of aneurysmal rupture, we used stent-graft to embolize the aneurysm treated percutaneously. The follow up of patient was uneventful after embolization. Endovascular embolization of the splenic artery aneurysm may prevent the need for emergency surgery and also offer an effective alternative surgical treatment.     

Intravenous patient-controlled analgesia using remifentanil in a child with Axenfeld-Rieger syndrome

Patient-controlled analgesia (PCA) using intravenous opioids is increasing in popularity for children aged 5 years and over. To our knowledge there are no reports on the use of PCA in children with remifentanil in the postoperative period. We report successful use of remifentanil for intravenous (IV) PCA in a child scheduled for suprasellar arachnoid cystectomy with Axenfeld-Rieger syndrome who needed good postoperative analgesia because of accompanying serious problems.