Chinese medical journal
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Chinese medical journal · Oct 2011
A novel missense mutation of the TYR gene in a pedigree with oculocutaneous albinism type 1 from China.
The mutation of the tyrosinase (TYR) gene results in oculocutaneous albinism type 1 (OCA1), an autosomal recessive genetic disorder. OCA1 is the most common type of OCA in the Chinese population. Hence, the TYR gene was tested in this study. We also delineated the genetic analysis of OCA1 in a Chinese family. ⋯ This study provided new information about a novel mutation, p.I151S, in the TYR gene in a Chinese family with OCA1. Further investigation of the proband would be helpful to determine the effects of this mutation on TYR activity.
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Chinese medical journal · Oct 2011
A diagnosis-based health economic analysis of postural orthostatic tachycardia syndrome in Chinese children.
Postural orthostatic tachycardia syndrome (POTS) is a common clinical problem in children and adolescents. The previous diagnostic approach to POTS of children and adolescents is based on a series of tests to exclude all other causes, which is time and medical resource consuming. Recently, a new diagnostic approach has been developed. The present study was designed to statistically analyze the results of clinical investigation items and the cost for the diagnosis of POTS in children patients, and evaluate cost changes in the diagnosis of POTS. ⋯ The cost of POTS diagnosis has been declined in recent years, but the cost of exclusive diagnosis is still its major part.
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Chinese medical journal · Oct 2011
Calcineurin is involved in cardioprotection induced by ischemic postconditioning through attenuating endoplasmic reticulum stress.
Ischemic postconditioning (I-postC) is a newly discovered and more amenable cardioprotective strategy capable of protecting the myocardium from ischemia/reperfusion (I/R) injury. Endoplasmic reticulum (ER) is a principal site for secretary protein synthesis and calcium storage. Myocardial I/R causes ER stress and emerging studies suggest that the cardioprotection has been linked to the modulation of ER stress. The aim of the present study was to determine whether cardioprotection of I-postC involves reduction in ER stress through calcineurin pathway. ⋯ I-postC protects myocardium from I/R injury by suppressing ER stress and calcineurin pathways are not associated with the I-postC-induced suppression of ER stress-related apoptosis.
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Chinese medical journal · Oct 2011
Effect of periodontal treatment on glycosylated hemoglobin levels in elderly patients with periodontal disease and type 2 diabetes.
Periodontal disease is closely related to type 2 diabetes and is an important complication of diabetes. This study aimed to investigate the effect of periodontal treatment on levels of blood glucose (Glu) and glycosylated hemoglobin (HbA1c) among elderly patients with type 2 diabetes and periodontal disease. ⋯ Periodontal condition is related to the control of Glu level among elderly patients with type 2 diabetes and periodontal disease. Periodontal treatment can effectively reduce the level of Glu and HbA1c as well as improve the periodontal condition in elderly type-2 diabetes patients with periodontal disease.
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Chinese medical journal · Oct 2011
Comparative StudyClinical effects of autologous stem cell transplantation as consolidation treatment in 70 multiple myeloma patients: a case-controlled study.
Autologous stem cell transplantation (ASCT) is a part of the standard induction therapy of multiple myeloma (MM). This case-controlled clinical trial aimed to further evaluate the therapeutic effects of ASCT as a consolidation therapy for MM and discuss factors influencing the prognosis. ⋯ Used as a consolidation therapy, ASCT can achieve better responses and higher OS and PFS of MM patients.