散发内淋巴囊瘤VHL基因位点微卫星标志杂合性丢失的研究

目的 探讨散发内淋巴囊瘤发病与VHL基因异常之间的关系。方法 采用组织微切割技术和多聚酶链式反应等方法对3例散发内淋巴囊瘤肿瘤细胞VHL基因位点染色体微卫星标志的杂合性丢失进行分析。结果 3例散发内淋巴囊瘤中有2例发生VHL基因位点微卫星标志的杂合性丢失,进一步的研究证实,该两例肿瘤细胞中分别存在着VHL基因第二外显子的异常。结论 VHL基因的异常导致其功能改变不但是VHL的致病原因,而且是散发性内淋巴囊瘤发病的重要的基因遗传学基础。     

Phenotypic diversity in siblings with partial androgen insensitivity syndrome

The androgen insensitivity syndrome is a heterogeneous disorder with a wide spectrum of phenotypic abnormalities, ranging from complete female to ambiguous forms that more closely resemble males. The primary abnormality is a defective androgen receptor protein due to a mutation of the androgen receptor gene. This prevents normal androgen action and thus leads to impaired virilisation. A point mutation of the androgen receptor gene affecting two siblings with partial androgen insensitivity syndrome is described. One had cliteromegaly and labial fusion and was raised as a girl, whereas the other sibling had micropenis and penoscrotal hypospadias and was raised as a boy. Both were shown to have the arginine 840 to cysteine mutation. The phenotypic variation in this family is thus dependent on factors other than abnormalities of the androgen receptor gene alone.     

Search for an optimal therapy of patients with atrial fibrillation (results of many years of comparison of three treatment strategies).

Patients with nonrheumatic atrial fibrillation (n=465, mean age 59.4+/-3.8 years) received controlled therapy for 7.4+/-1.6 years. Group 1 comprised 306 patients with paroxysmal and persistent atrial fibrillation who after restoration of sinus rhythm received antiarrhythmic therapy aimed at prevention of recurrences and repetitive cardioversions. Group 2 consisted of 67 similar patients who did not receive continuous antiarrhythmic therapy. Therapy of patients with persistent atrial fibrillation (group 3, n=92) included heart rate slowing drugs and anticoagulants. Group 1 was characterized by lowest rate of complications and all cause mortality, and best quality of life. There were more nonfatal strokes in group 2. All cause mortality in group 2 was 15% (p<0.05). Highest rate of nonfatal strokes, and deaths due to chronic heart failure was observed in group 3. All cause mortality in this group was 22.8% (p<0.001 vs group 1).     

Compression asymmetric static experimental model of degenerative disk diseases

We propose an experimental model of degenerative-dystrophic changes in intervertebral disks of rat tail. The results of X-ray examination and histological studies showed that degenerative changes in the disk tissues caused by experimental compression of intervertebral disks in rat tails are identical to those in humans. __________ Translated from Kletochnye Tehnologii v Biologii i Medicine, No. 3, pp. 139–142, July, 2007     

Prospective assessment of a training effect in correction of endothelial dysfunction and atherosclerosis risk factors in students (results of examination of Tomsk male students)

AIM: To assess a training effect correcting endothelial dysfunction (ED), neurovegetative status and atherosclerosis risk factors (ARF) in male students. MATERIAL AND METHODS: Ninety healthy students aged 18-25 years with ARF and ED were followed up after bicycle exercise (BE) 3 times a week: 30 males did BE for 1 month, 30--for 2 months and 30--for 3 months. Blood lipids, exercise tolerance (ET), parameters of cardiointervalography, dopplerangiography of the brachial artery and rheovasography of the forearm at rest and in tests with reactive hyperemia, hyperventilation were estimated immediately after, 1 and 3 months after BE. RESULTS: Two-month BE forms adequate structural trace the effect of which can be partially found 3 months later. Three-month BE tells on adaptation as it produces proatherogenic shifts in blood lipids. After the two-month cycle of BE positive effects regress in the following order: normalization of blood lipids, improvement of vegetovascular reactivity, high exercise tolerance and endothelium-related vasodilation. CONCLUSION: Two-month exercise is effective and safe, forms adaptive reserve of the body, structural effect of which partially persists for 3 months.     

Using mobile technology to overcome language barriers in medicine

Australia has a large migrant population with variable fluency in English. Interpreting services help ensure that healthcare services are delivered appropriately to these populations. However, the use of professional interpreters in hospitals is expensive. There are also issues with service availability and convenience. Mobile devices containing software with translating abilities have promising potential to improve communication between patients and hospital staff as an adjunct to professional interpreters. It is highly convenient and inexpensive. There are concerns about the accuracy of the interpretation done with such software and more research needs to be carried out to support or allay these concerns. For now, clinically important and medicolegal related interpretation should be undertaken by professional interpreters whereas less crucial tasks may be performed with the help of interpreting software on mobile devices.     

分级检验在血脂检验中的应用价值

目的：对分级检验在血脂检验中的应用价值进行评价分析,为今后临床检验工作提供可靠的参考依据。方法选取2012年8月~2014年8月在本院接受血脂检验患者109例,均采集血液标本6 ml,平均分成2份,分别采取拉网式检验和分级检验2种不同的检验方法对血脂水平进行检验,对比分析检验结果。结果2种方法在检测低密度脂蛋白胆固醇、载脂蛋白A值和B值方面的结果有显著性差异(P<0.05),三酰甘油、总胆固醇、高密度脂蛋白胆固醇的检验结果则无明显差异(P>0.05)。结论分级检验能够对高血脂进行直接准确检测,临床价值显著,值得关注并推广。     

Plasma cells induce apoptosis of pre-B cells by interacting with bone marrow stromal cells

By using two-color phenotypic analysis with fluorescein isothiocyanate- anti-CD38 and phycoerythrin-anti-CD19 antibodies, we found that pre-B cells (CD38+CD19+) signifcantly decreased depending on the number of plasma cells (CD38++CD19+) in the bone marrow (BM) in the cases with BM plasmacytosis, such as myelomas and even polyclonal gammopathy. To clarify how plasma cells suppress survival of pre-B cells, we examined the effect of plasma cells on the survival of pre-B cells with or without BM-derived stromal cells in vitro. Pre-B cells alone rapidly entered apoptosis, but interleukin-7 (IL-7), a BM stromal cell line (KM- 102), or culture supernatants of KM-102 cells could support pre-B cell survival. On the other hand, inhibitory factors such as transforming growth factor-beta1 (TGF-beta1) and macrophage inflammatory protein- 1beta (MIP-1beta) could suppress survival of pre-B cells even in the presence of IL-7. Plasma cells alone could not suppress survival of pre- B cells in the presence of IL-7, but coculture of plasma cells with KM- 102 cells or primary BM stromal cells induced apoptosis of pre-B cells. Supernatants of coculture with KM-102 and myeloma cell lines (KMS-5) also could suppress survival of pre-B cells. Furthermore, we examined the expression of IL-7, TGF-beta1, and MIP-1beta mRNA in KM-102 cells and primary stromal cells cocultured with myeloma cell lines (KMS-5). In these cells, IL-7 mRNA was downregulated, but the expression of TGF- beta1 and MIP-1beta mRNA was augmented. Therefore, these results suggest that BM-derived stromal cells attached to plasma (myeloma) cells were modulated to secrete lesser levels of supporting factor (IL- 7) and higher levels of inhibitory factors (TGF-beta1 and MIP-1beta) for pre-B cell survival, which could explain why the increased number of plasma (myeloma) cells induced suppression of pre-B cells in the BM. This phenomenon may represent a feedback loop between pre-B cells and plasma cells via BM stromal cells in the BM.     

Neonatal airway obstruction caused by rapidly growing nasopharyngeal teratoma

A case report is presented of a rapidly growing congenital nasopharyngeal teratoma (epignathus) in a preterm infant, leading to severe upper airway obstruction. Prenatal diagnosis by ultrasonography did not reveal the condition because the tumour masses were initially small and there was no polyhydramnios. Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period and should be treated surgically.
Conclusion:  Epignathus is a rare cause of upper airway obstruction of the newborn that can grow rapidly in the neonatal period.