• Title/Summary/Keyword: Dent disease

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An overview of Dent disease

  • Eun Mi Yang;Seong Hwan Chang
    • Childhood Kidney Diseases
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    • v.27 no.2
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    • pp.70-75
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    • 2023
  • Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice. A diagnosis is clinically suspected in patients with low-molecular-weight proteinuria, hypercalciuria, and one of the following: hematuria, nephrolithiasis, nephrocalcinosis, hypophosphatemia, or chronic kidney disease. Inheritance is X-linked recessive, meaning, these symptoms are generally only found in males; female carriers may have mild phenotypes. Genetic testing is only a method to confirm the diagnosis, approximately 25% to 35% of patients have neither the CLCN5 nor OCRL1 pathogenic variants (Dent disease 3), making diagnosis more challenging. The genotype-phenotype correlations are not evident with the limited clinical data available. As with many other genetic diseases, the management of patients with Dent disease concentrates on symptom relief rather than any causative process. The current treatments are mainly supportive to reduce hypercalciuria and prevent nephrolithiasis. Chronic kidney disease progresses to end-stage between the ages of the third to fifth decades in 30% to 80% of affected males. In this review, we aimed to summarize the literature on Dent disease and reveal the clinical characteristics and molecular basis of Korean patients with Dent disease.

Origin of Proteinuria as Observed from Qualitative and Quantitative Analysis of Serum and Urinary Proteins

  • Takahashi, Shori
    • Childhood Kidney Diseases
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    • v.19 no.2
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    • pp.65-70
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    • 2015
  • It is well known that proteins present in the primary urine are reabsorbed in the renal proximal tubules, and that this reabsorption is mediated via the megalin-cubilin complex and the neonatal $Fc{\gamma}$ receptor. However, the reabsorption is also thought to be influenced by an electrostatic interaction between protein molecules and the microvilli of the renal proximal tubules. By analyzing the charge diversity of urinary IgG, we showed that this reabsorption process occurs in a cationic charge-preferential manner. The charge-selective molecular sieving function of the glomerular capillary walls has long been a target of research since Brenner et al. demonstrated the existence of this function by a differential clearance study by using the anionic dextran sulfate polymer. However, conclusive evidence was not obtained when the study was performed using differential clearance of serum proteins. We noted that immunoglobulin (Ig) A and IgG have similar molecular sizes but distinct molecular isoelectric points. Therefore, we studied the differential clearance of these serum proteins (clearance IgA/clearance IgG) in podocyte diseases and glomerulonephritis. In addition, we studied this differential clearance in patients with Dent disease rather than in normal subjects because the glomerular sieving function is considered to be normal in subjects with Dent disease. Our results clearly showed that the charge-selective barrier is operational in Dent disease, impaired in podocyte disease, and lacking in glomerulonephritis.

Facial Pain and Acupuncture in Medline (Facial Pain과 acupuncture로 검색된 medline 논문에 대한 고찰)

  • Chung, Chong-Un;Park Dong-Suk;Kang Sung-Keel
    • Journal of Acupuncture Research
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    • v.18 no.1
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    • pp.50-60
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    • 2001
  • In order to review the studies related to the facial pain by acupuncture, we have referred to a PubMed site by using MeSH searching word of "facial pain and acupuncture". 12 journals with 20 papers were reported on the facial pain and acupuncture. Among them, 4 papers were appeared in Am J Chin Med, 3 in Acupunct Electrother Res, 2 in Br. Dent J, J Orofac Pain and Swed Dent J respectively, and 1 in 7 journals respectively. According to the classification of the patterns, 15 papers were done by clinical studies, 2 by review and meta-analysis respectively, and 1 by experimental study. TMD was the most disease that related to facial pain and CMD, neurogenic facial pain (trigeminal neuralgia, postherpetic pain), dental pain and MPS were also appeared. Most of the studies didn't mention the acupuncture points, L14 Habkok in 4 papers and ST36 Chogsamni in a paper were only mentioned. Various modalities were applied in the trials such as classical acupuncture, electroacupuncture, TENS, SSP and auricular acupuncture. By the above results, we concluded that various acupuncture techniques are used with effectiveness on the facial pain. It would be needed further research on the acupuncture point specific and therapeutic techniques as well.

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Current Status and Prospect of Qauality Evaluation in Maize (옥수수의 품질평가 현황과 전망)

  • 김선림;문현귀;류용환
    • KOREAN JOURNAL OF CROP SCIENCE
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    • v.47
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    • pp.107-123
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    • 2002
  • This paper is intented to present a information of various aspects of quality related characteristics and standards for grades in maize. Maize is world's one of the three most popular cereal crops and a primary energy supplement and can contribute up to 30, 60, and 98% of the dairy diet's protein, net energy, and starch, respectively. Maize is also processed into industrial goods by wet or dry milling. Sweet corn is a leader among vegetable crops and its production for fresh or processing markets is a major industry in many countries. Over the years, the combined efforts of breeders and geneticists, biochemists, food scientists, and others have helped bring us to the point where we understand issues related to sweet corn quality. Traditional criteria for selecting corn hybrids have been based primarily on agronomic factors, including grain production, disease resistance, drought tolerance, and storage characteristics. Little emphasis has been placed on the quality and nutritional values of corn. Although there is widespread interest for value-enhanced corns have increased tremendously in the last five years, there is limited information available on the production and comparing the quality attributes of specialty grains with those of normal yellow dent corn. Most countries have developed national maize standards, aiming to provide a framework for trade, both internal and external. Where trading involves direct choice and price negotiation in front of the commodity, grading standards are rarely employed; quality is assessed visually and is influenced by end-use, and the price is determined more by local rather than national factors. The use of an agreed standard will provide an unambiguous description of the quality of the consignment and assist in the formation of a legally-binding contract. Standards can also be seen to protect consumers rights through setting limits to the amount of unsuitable or noxious material.