Abstract:Citrullinemia is the earliest identifiable biochemical abnormality in neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has been included in newborn screening panels using tandem mass spectrometry. However, only one neonate was positive among 600,000 infants born in Sapporo city and Hokkaido, Japan between 2006 and 2017. We investigated 12 neonates with NICCD who were initially considered normal in newborn mass screening (NBS) by tandem mass spectrometry, but were later diagnosed with NICCD by DNA tests. Using their initial NBS data, we examined citrulline concentrations and ratios of citrulline to total amino acids. Although their citrulline values exceeded the mean of the normal neonates and 80% of them surpassed +3 SD (standard deviation), all were below the cutoff of 40 nmol/mL. The ratios of citrulline to total amino acids significantly elevated in patients with NICCD compared to the control. By evaluating two indicators simultaneously, we could select about 80% of patients with missed NICCD. Introducing an estimated index comprising citrulline values and citrulline to total amino acid ratios could assure NICCD detection by NBS.
Although exposure to environmental toxicants, including endocrine-disrupting chemicals, is thought to be a possible cause of male infertility, the pathogenesis of male reproductive disorders remains unclear. In the present study, we used Gulo-/- mutant mice, which are unable to synthesize ascorbic acid, to study the importance of dietary vitamin C (VC) on spermatogenesis. Regular chow containing approximately 110 mg/kg VC is unable to support the growth of these mutant mice, but a VC supplement in their drinking water (330 mg/L) is able to ameliorate the VC deficiency. Testes of Gulo-/- mutants born from heterozygous mothers without VC supplement (VC-deficient mice) and those born from mothers given a VC supplement (VC-sufficient mice) were examined by morphological and biochemical analyses. Morphological analysis revealed that apoptosis of spermatocytes occurred frequently in VC-deficient mice at 20 days of age. Two-dimensional electrophoresis analysis revealed the specific disappearance of heat-shock protein (Hsp) 70 in the testes of 20-day-old VC-deficient mice. In the present study, the relationship between the apoptosis of spermatocytes and Hsp70 in VC-deficient mice is discussed.
Abstract:Citrullinemia is the earliest identifiable biochemical abnormality in 13neonates with intrahepatic cholestasis due to a citrin deficiency (NICCD) and it has 14 been included in newborn screening panels using tandem mass spectrometry. 15However, only one neonate was positive among 600,000 infants born in Sapporo 16 city and Hokkaido, Japan between 2006 and 2017. We investigated 12 neonates with 17 NICCD who were initially considered normal in newborn mass screening (NBS) by 18 tandem mass spectrometry, but were later diagnosed with NICCD by DNA tests. 19Using their initial NBS data, we examined citrulline concentrations and ratios of 20 citrulline to total amino acids. Although their citrulline values exceeded the mean 21 of the normal neonates and 80 % of them surpassed +3SD, all were below the cutoff 22 of 40 nmol/mL. The ratios of citrulline to total amino acids significantly elevated in 23 patients with NICCD compared to the control. By evaluating two indicators 24 simultaneously, we could select about 80% of patients with missed NICCD. 25Introducing an estimated index comprising citrulline values and citrulline to total 26 amino acid ratios could assure NICCD detection by NBS. 27 Keywords: SLC25A13; amino acid ratio; citrullinemia; latent liver dysfunction; 28 mitochondrial aspartate-glutamate carrier 29 30
A girl, 7 years of age, was reported who had been suffered from migratory arthralgia, bone pain and erythematous rash. She had increased inflammatory markers such as C-reactive protein, erythrocyte sedimentation rate, and mild anemia for more than 6 months. In the beginning, she was suspected of having either juvenile idiopathic arthritis or chronic recurrent multifocal osteomyelitis. However, after about 6 months, there were abrupt increases of LDH in serum titers and blast cells were also revealed by bone marrow examination. Upon these findings, she was diagnosed with acute lymphocytic leukemia. Since bone pain and arthralgia bone pain and arthralgia are both indicative of numerous inflammatory disorders such as infectious myelitis, juvenile chronic arthritis, childhood leukemia and malignancies, and auto-inflammatory bone diseases, especially chronic recurrent multifocal osteomyelitis, it is difficult to accurately diagnose right away. For now, these aforementioned inflammatory responses are the sole key findings for clinical investigations. Other than that, there are not enough reports yet to help diagnose incases similar to this. Therefore, it is difficult to differentiate between the disorders above even after blood tests, Ga-scincigraphy, and imaging examinations. Moreover, in the case of childhood leukemia, it was difficult to differentiate these diseases by routine X-ray surveys in the general pediatric fields. The reasons are because there are only a few descriptions on X-ray bone examinations on findings of X-ray bone investigations, and both are usually non-specific. However, according to the pediatric radiology specialists, of which there are only a few in Japan, the imaging results show somewhat abnormal findings could be spotted from the early stage. Through this present case, it is suggested to us that it is important to consult the pediatric radiology specialists in order to speed up the diagnostic process. Furthermore, the accumulation of radiological findings of leukemia in children with bone pain and arthralgia will attribute to an early diagnosis and lead to the resolution of pathogenesis of leukemia.
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