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Objective To investigate the clinical characteristics of families with Huntington disease in Sichuan, and to make genetic diagnosis and pedigree analysis, and to provide genetic counseling for family members. Methods The detailed clinical data of Huntington disease patients and some family members who visited were collected from provincial people's Hospital of Sichuan between March 2016 and March 2018. The CAG trinucleotide repeats of IT15 gene were examined. The mini mental state examination (MMSE), Montreal cognitive scale (MoCA) were used to evaluate the cognitive function. Hamilton anxiety scale (HAMA), Hamilton Depression scale (HAMD) were used to evaluate the emotion. Activities of daily living scale (ADL) were used to evaluate the ability of daily life. Results Genetic test was conducted on twenty-four individuals from 4 families. Genetic test detected eight HD patients with 41-54 CAG repeats (46.75±4.03) and seven presymptomatic patients with 43~58 CAG repeats (50.00 ±6.40). Four of HD patients required genetic counseling for marriage and childbearing. The number of normal CAG repeats was 12~24, with 17 and 20 being the most common. Correlation analysis found that the number of CAG repeats was negatively correlated with the age of onset (r=-0.967, P＜0.01). ADL score was positively correlated with course of disease (r=0.842, P＜0.01), and negatively correlated with MMSE score (r=-0.930, P＜0.01) and MoCA score (r=-0.932, P＜0.01). Conclusion Genetic test is of great significance in the diagnosis of Huntington's disease, especially in patients with negative family history. The number of CAG repeats is increase from generation to generation and there is genetic anticipation in HD families. The number of CAG repeats can predict the onset age to some extent. Genetic counseling and prenatal diagnosis are important to avoid the birth of a child with HD.
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The article is to study the objective evaluation method of the imaging quality of aspheric intraocular lens with different design concepts by establishing the model eye which is close to the actual corneal spherical aberration characteristics. Combined with the research data of corneal spherical aberration, the simulated cornea corresponding to Zernike c(4,0) coefficient 0.00 μm, 0.10 μm, 0.20 μm and 0.28 μm was established respectively. The optical quality of the measured simulated corneal lenses basically reached the theoretical design effect, and the deviation between the MTF value and the theoretical design value was equivalent to the MTF test repeatability. The establishment of model eye for artificial lens provides a research tool for the evaluation of aspheric intraocular lens imaging quality.
Subject(s)
Cornea , Lens Implantation, Intraocular , Lenses, Intraocular , Reference Standards , Quality Control , Vision, OcularABSTRACT
Objective To evaluate the effect of Xingqi Tongfu Pad on the intestinal functions of children with acute abdomen after surgery. Methods The random digit table was used to randomize 146 patients with acute abdomen into treatment group (n=71) and control group (n=75) according to their registration number. In the control group, the patients only received normal treatment and nursing, while those in the treatment group received Xingqi Tongfu Pad for the acupoint application in addition to routine treatments. The two groups were compared in terms of the time of bowel sound recovery , the exhaust defecation time and gastrointestinal dysfunction score. Results The bowel sounds and the first exhaust and defecation in the treatment group appeared obviously earlier than those in the control group . The score on gastrointestinal dysfunction in the treated group was significantly higher than that of the control group (P<0.05). Conclusions Xingqi Tongfu Pad can promote the recovery of gastrointestinal function after abdominal operation. It deserves popularization for its positive effect, cheap price and easy operation.
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Hypoxia-inducible factor-1 (HIF-1) is an inportant regulatory factor in adapting to hypoxia in the hypoxic environment for cells.The changes of the numbers of HIF-1 in cells may regulate hypoxia-responsive gene transcription.HIF-1 may inhibit neuronal apoptosis and thus play a ncuroptotective role,and may also show a neurotoxic effect by inducing neuronal apoptosis.
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Hypoxia-inducible factor(HIF)is a pivotal transcription factor for hypoxic response.This article reviews the related characteristics of HIF-1 and its target genes vascular endothelial growth factor and the neuroprotective mechanisrms in cerebral ischemia.