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1.
Chinese Journal of Medical Genetics ; (6): 981-984, 2021.
Article in Chinese | WPRIM | ID: wpr-921981

ABSTRACT

OBJECTIVE@#To explore the genetic basis for a girl with febrile convulsion as the main manifestation.@*METHODS@#The child was subjected to whole exome sequencing (WES) and copy number variation sequencing(CNV-seq). Fluorescence quantitative PCR was carried out to validate the microdeletion in her family.@*RESULTS@#The 7-year-old girl was diagnosed with febrile convulsion (complex type) for having fever for 3 days, mild cough and low thermal convulsion once. Her father, mother and aunt also had a history of febrile convulsion. A heterozygous deletion with a size of approximately 1.5 Mb was detected in the 16p13.11 region by WES and CNV-seq. The deletion has derived from her father and was confirmed by fluorescence quantitative PCR.@*CONCLUSION@#16p13.11 microdeletion syndrome has significant clinical heterogeneity. Different from those with epilepsy, mental retardation, autism, multiple malformations, carriers of 16p13.11 deletion may only manifest with febrile convulsion. Deletion of certain gene(s) from the region may be related to febrile convulsion and underlay the symptom of this child.


Subject(s)
Child , Female , Humans , DNA Copy Number Variations , Epilepsy , Seizures/genetics , Seizures, Febrile/genetics , Exome Sequencing
2.
Chinese Pharmacological Bulletin ; (12): 191-197, 2018.
Article in Chinese | WPRIM | ID: wpr-705016

ABSTRACT

Aim To observe the effect of capsaicin on the experimental autoimmune neuritis (EAN) in rats and explore the mechanism.Methods To induce EAN,male Lewis rats were immunized with peripheralnerve myelin sheath antigen (P257481) peptide and complete Freund's adjuvant (CFA) mixed liquor.Rapamycin (RAPA,2.5 mg · kg-1) was administered by intraperitoneal injection 0.5 h after immunization and capsaicin (1 mg · kg-1 · d-1) was administered by intragastric administration 1.0 h after immunization for 15 days.The incidence and clinical characteristics of EAN were observed.The clinical scores of neurological signs were completed and body weight was measured.Pathological morphology of sciatic nerve was observed by HE staining and Lauck fast blue staining.Ultrastructure of sciatic nerve was observed by transmission electron microscope.Levels of serum tumor necrosis factor alpha (TNF-α),interferon gamma (IFN-γ),interleukin 1β (IL-1β) and intedeukin-6 (IL-6) were tested by enzyme linked immunosorbent assay (ELISA).Expressions of autophagy related protein were measured by Western blot.Results Compared with EAN group,the clinical scores of neurological signs significantly decreased from day 7 to day 16 of post-immunization (P < 0.05),body weight significantly increased from day 3 to day 16 of post-immunization (P < 0.05),demyelination obviously decreased,inflammatory cell infiltration number obviously decreased (P < 0.05),the levels of TNF-α,IFN-γ,IL-1β and IL-6 significantly decreased (P < 0.05),the number of autophagosome in axon of sciatic nerve significantly decreased (P < 0.05),and expressions of Beclin-1 and LC3-Ⅱ and the ratio of LC3-Ⅱ and LC3-Ⅰ were significantly down-regulated,and the expression of p62 was significantly up-regulated (P < 0.05) in EAN + capsaicin group.Rapamycin partially reversed the action of capsaicin.Conclusions Capsaicin inhibits EAN in rats,and the mechanism may be related with the inhibition of autophagy activity.

3.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 482-485, 2017.
Article in Chinese | WPRIM | ID: wpr-658057

ABSTRACT

Objective:To explore improving effect of cognitive restructuring intervention on control attitude,mental state and compliance in patients with coronary heart disease (CHD).Methods:A total of 112 CHD patients were selected.Ac-cording to random number table,they were randomly and equally divided into routine nursing group and cognitive restructu-ring group.Control attitude score,mental state change and compliance were compared between two groups before and after nursing.Results:Compared with before nursing and routine nursing group after nursing,there was significant rise in control attitude score [(26.51±2.04)scores,(27.22±3.58)scores vs.(31.96±3.13)scores]in cognitive restructuring group, P =0.001 both;compared with before nursing,there were significant reductions in scores of Zung's anxiety self-rating scale (SAS)and Zung's depression self-rating scale (SDS)after nursing in both groups,and compared with routine nursing group after nursing,there were significant reductions in scores of SAS [(41.62±6.55)scores vs.(35.02±4.31)scores]and SDS[(48.24±7.32)scores vs.(41.02±5.33)scores]in cognitive restructuring group,P <0.01 all;therapeutic compliance of cognitive restructuring group was significantly better than that of routine nursing group (96.43% vs.75.00%,P =0.003). Conclusion:Cognitive restructuring intervention can significantly improve control force,relieve negative emotions and im-prove therapeutic compliance in CHD patients,which is worth extending.

4.
The Singapore Family Physician ; : 53-57, 2017.
Article | WPRIM | ID: wpr-633987

ABSTRACT

Superior Mesenteric Artery (SMA) syndrome is a well-known but rare complication following corrective surgery for scoliosis. It can be easily missed if not thought of in patients presenting with abdominal pain and vomiting post-scoliosis surgery. SMA syndrome is most commonly associated with conditions resulting in significant weight loss but can also occur as a result of biomechanical changes following scoliosis surgery. We present a case of a 13 year-old girl who developed SMA syndrome following scoliosis surgery. A high index of suspicion and early surgical referral are paramount for the successful management of SMA syndrome.

5.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 482-485, 2017.
Article in Chinese | WPRIM | ID: wpr-660760

ABSTRACT

Objective:To explore improving effect of cognitive restructuring intervention on control attitude,mental state and compliance in patients with coronary heart disease (CHD).Methods:A total of 112 CHD patients were selected.Ac-cording to random number table,they were randomly and equally divided into routine nursing group and cognitive restructu-ring group.Control attitude score,mental state change and compliance were compared between two groups before and after nursing.Results:Compared with before nursing and routine nursing group after nursing,there was significant rise in control attitude score [(26.51±2.04)scores,(27.22±3.58)scores vs.(31.96±3.13)scores]in cognitive restructuring group, P =0.001 both;compared with before nursing,there were significant reductions in scores of Zung's anxiety self-rating scale (SAS)and Zung's depression self-rating scale (SDS)after nursing in both groups,and compared with routine nursing group after nursing,there were significant reductions in scores of SAS [(41.62±6.55)scores vs.(35.02±4.31)scores]and SDS[(48.24±7.32)scores vs.(41.02±5.33)scores]in cognitive restructuring group,P <0.01 all;therapeutic compliance of cognitive restructuring group was significantly better than that of routine nursing group (96.43% vs.75.00%,P =0.003). Conclusion:Cognitive restructuring intervention can significantly improve control force,relieve negative emotions and im-prove therapeutic compliance in CHD patients,which is worth extending.

6.
Chinese Pharmacological Bulletin ; (12): 1493-1495, 2017.
Article in Chinese | WPRIM | ID: wpr-667522

ABSTRACT

Tumor is a disease with high mortality rate,which seriously threatens the human life and health.To study the antitumor effect,sensitization and anti-drug-resistant action of effective ingredients extracted from traditional Chinese medicine or natural medicine is a hotspot.Polymethoxyflavone is a class of flavonoids with strong anti-tumor activity found in recent years.In this paper,the research progress on anti-tumor action and its mechanisms of polymethoxyflavonoids is reviewed.

7.
China Journal of Orthopaedics and Traumatology ; (12): 244-247, 2014.
Article in Chinese | WPRIM | ID: wpr-301846

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effects of locking plate fixation through lateral deltoid approach for proximal humeral fracture combined with micro-invasive percutaneous plating (MIPPO) technique.</p><p><b>METHODS</b>From April 2009 to March 2012,26 patients with proximal humeral fractures were treated with proximal humeral locking system plate fixation through lateral deltoid approach, including 17 males and 9 females with an average age of 58 years old ranging from 28 to 76 years old. The time from injury to operation was 3 to 10 days (averaged 5.6 days). According to Neer typing for the proximal humeral fractures, 7 cases had 2 parts of fracture,15 had 3 parts of fracture,and 4 had 4 parts of fracture. The Neer score for shoulder function was evaluated.</p><p><b>RESULTS</b>All patients were followed up,and the duration ranged from 10 to 21 months (averaged 13.6 months). All patients were achieved bony union,the average healing time was 12.5 weeks (ranged from 10 to 21 weeks). No humeral head necrosis and axillary nerve injury occurred. According to Neer scoring system,the total score was 88.36 +/- 7.82, pain 30.82 +/- 3.24, function 23.76 +/- 5.71, activity 17.59 +/- 5.36, anatomical position 7.03 +/- 2.39; the result was excellent in 18 cases, good in 5 cases, fair in 2 cases, poor in 1 case.</p><p><b>CONCLUSION</b>Lateral deltoid approach combined with locking plate fixation for treatment of proximal humeral fracture has advantages of small invasion,less blood lossing, short operative time, stable fixation, high rate of fracture healing, and satisfactory functional recovery.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Bone Plates , Fracture Fixation, Internal , Methods , Humeral Fractures , General Surgery , Shoulder Fractures , General Surgery , Treatment Outcome
8.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 626-633, 2014.
Article in English | WPRIM | ID: wpr-351027

ABSTRACT

This study was aimed to establish a stable animal model of left ventricular hypertrophy (LVH) to provide theoretical and experimental basis for understanding the development of LVH. The abdominal aorta of male Wistar rats (80-100 g) was constricted to a diameter of 0.55 mm between the branches of the celiac and anterior mesenteric arteries. Echocardiography using a linear phased array probe was performed as well as pathological examination and plasma B-type natriuretic peptide (BNP) measurement at 3, 4 and 6 weeks after abdominal aortic constriction (AAC). The results showed that the acute mortality rate (within 24 h) of this modified rat model was 8%. Animals who underwent AAC demonstrated significantly increased interventricular septal (IVS), LV posterior wall (LVPWd), LV mass index (LVMI), cross-sectional area (CSA) of myocytes, and perivascular fibrosis; the ejection fraction (EF), fractional shortening (FS), and cardiac output (CO) were consistently lower at each time point after AAC. Notably, differences in these parameters between AAC group and sham group were significant by 3 weeks and reached peaks at 4th week. Following AAC, the plasma BNP was gradually elevated compared with the sham group at 3rd and 6th week. It was concluded that this modified AAC model can develop LVH, both stably and safely, by week four post-surgery; echocardiography is able to assess changes in chamber dimensions and systolic properties accurately in rats with LVH.


Subject(s)
Animals , Male , Aorta, Abdominal , Pathology , Constriction, Pathologic , Disease Models, Animal , Echocardiography , Methods , Enzyme-Linked Immunosorbent Assay , Heart , Hypertrophy, Left Ventricular , Blood , Pathology , Myocardium , Pathology , Natriuretic Peptide, Brain , Blood , Rats, Wistar , Time Factors
9.
Journal of Zhejiang University. Medical sciences ; (6): 240-244, 2014.
Article in Chinese | WPRIM | ID: wpr-252676

ABSTRACT

<p><b>OBJECTIVE</b>To construct a satisfaction evaluation indicator system based on patients' experiences of medical services.</p><p><b>METHODS</b>A questionnaire was designed by expert interview and literature review and 400 copies were randomly handed out to inpatients and outpatients from five 3A-public hospitals in Shanghai. The patient's evaluation of importance of various factors in medical services was analyzed and the mean and weight of indicators in terms of recognition, importance and evaluation were determined to establish a satisfaction evaluation indicator system.</p><p><b>RESULTS</b>A total of 396 valid questionnaires were retrieved, with an effective response rate of 99%. By analyzing survey data, the patient satisfaction evaluation indicator system was constructed with 5 primary indicators (hospital environment, medical procedures, attitude, and quality of care and patient rights) and 25 secondary indicators (convenient hospital environment, auxiliary facilities, reasonable arrangement, clearly mark, convenient appointment, simple procedures, short time, the attitude of medical staff, solutions of medical dispute, medical technology, treatment, medical equipment, medical expenses, respect, patient privacy, etc.).</p><p><b>CONCLUSION</b>A patient satisfaction evaluation indicator system has been established based on patients' experience of medical services in the study, which may be applicable to measure patients' satisfaction and to improve medical services in hospitals.</p>


Subject(s)
Humans , China , Patient Satisfaction , Surveys and Questionnaires
10.
Allergy, Asthma & Immunology Research ; : 478-484, 2014.
Article in English | WPRIM | ID: wpr-197339

ABSTRACT

The prevalence of asthma and allergic disease has increased worldwide over the last few decades. Many common environmental factors are associated with this increase. Several theories have been proposed to account for this trend, especially those concerning the impact of environmental toxicants. The development of the immune system, particularly in the prenatal period, has far-reaching consequences for health during early childhood, and throughout adult life. One underlying mechanism for the increased levels of allergic responses, secondary to exposure, appears to be an imbalance in the T-helper function caused by exposure to the toxicants. Exposure to environmental endocrine-disrupting chemicals can result in dramatic changes in cytokine production, the activity of the immune system, the overall Th1 and Th2 balance, and in mediators of type 1 hypersensitivity mediators, such as IgE. Passive exposure to tobacco smoke is a common risk factor for wheezing and asthma in children. People living in urban areas and close to roads with a high volume of traffic, and high levels of diesel exhaust fumes, have the highest exposure to environmental compounds, and these people are strongly linked with type 1 hypersensitivity disorders and enhanced Th2 responses. These data are consistent with epidemiological research that has consistently detected increased incidences of allergies and asthma in people living in these locations. During recent decades more than 100,000 new chemicals have been used in common consumer products and are released into the everyday environment. Therefore, in this review, we discuss the environmental effects on allergies of indoor and outside exposure.


Subject(s)
Adult , Child , Humans , Asthma , Hypersensitivity , Immune System , Immunoglobulin E , Incidence , Inflammation , Prevalence , Respiratory Sounds , Risk Factors , Smoke , Smoking , Nicotiana , Vehicle Emissions
11.
Journal of Huazhong University of Science and Technology (Medical Sciences) ; (6): 626-33, 2014.
Article in English | WPRIM | ID: wpr-636709

ABSTRACT

This study was aimed to establish a stable animal model of left ventricular hypertrophy (LVH) to provide theoretical and experimental basis for understanding the development of LVH. The abdominal aorta of male Wistar rats (80-100 g) was constricted to a diameter of 0.55 mm between the branches of the celiac and anterior mesenteric arteries. Echocardiography using a linear phased array probe was performed as well as pathological examination and plasma B-type natriuretic peptide (BNP) measurement at 3, 4 and 6 weeks after abdominal aortic constriction (AAC). The results showed that the acute mortality rate (within 24 h) of this modified rat model was 8%. Animals who underwent AAC demonstrated significantly increased interventricular septal (IVS), LV posterior wall (LVPWd), LV mass index (LVMI), cross-sectional area (CSA) of myocytes, and perivascular fibrosis; the ejection fraction (EF), fractional shortening (FS), and cardiac output (CO) were consistently lower at each time point after AAC. Notably, differences in these parameters between AAC group and sham group were significant by 3 weeks and reached peaks at 4th week. Following AAC, the plasma BNP was gradually elevated compared with the sham group at 3rd and 6th week. It was concluded that this modified AAC model can develop LVH, both stably and safely, by week four post-surgery; echocardiography is able to assess changes in chamber dimensions and systolic properties accurately in rats with LVH.

12.
Asia Pacific Allergy ; (4): 14-18, 2014.
Article in English | WPRIM | ID: wpr-749976

ABSTRACT

Asthma, a chronic inflammatory disorder of the airway, has features of both heritability as well as environmental influences which can be introduced in utero exposures and modified through aging, and the features may attribute to epigenetic regulation. Epigenetic regulation explains the association between early prenatal maternal smoking and later asthma-related outcomes. Epigenetic marks (DNA methylation, modifications of histone tails or noncoding RNAs) work with other components of the cellular regulatory machinery to control the levels of expressed genes, and several allergy- and asthma-related genes have been found to be susceptible to epigenetic regulation, including genes important to T-effector pathways (IFN-γ, interleukin [IL] 4, IL-13, IL-17) and T-regulatory pathways (FoxP3). Therefore, the mechanism by which epigenetic regulation contributes to allergic diseases is a critical issue. In the past most published experimental work, with few exceptions, has only comprised small observational studies and models in cell systems and animals. However, very recently exciting and elegant experimental studies and novel translational research works were published with new and advanced technologies investigating epigenetic mark on a genomic scale and comprehensive approaches to data analysis. Interestingly, a potential link between exposure to environmental pollutants and the occurrence of allergic diseases is revealed recently, particular in developed and industrialized countries, and endocrine disrupting chemicals (EDCs) as environmental hormone may play a key role. This review addresses the important question of how EDCs (nonylphenol, 4 octylphenol, and phthalates) influences on asthma-related gene expression via epigenetic regulation in immune cells, and how anti-asthmatic agents prohibit expression of inflammatory genes via epigenetic modification. The discovery and validation of epigenetic biomarkers linking exposure to allergic diseases might lead to better epigenotyping of risk, prognosis, treatment prediction, and development of novel therapies.


Subject(s)
Animals , Acetylation , Aging , Anti-Asthmatic Agents , Asthma , Biomarkers , Developed Countries , Endocrine Disruptors , Environmental Pollutants , Epigenomics , Gene Expression , Histones , Hypersensitivity , Interleukin-13 , Interleukins , Methylation , Prognosis , Smoke , Smoking , Statistics as Topic , Tail , Translational Research, Biomedical
13.
Chinese Acupuncture & Moxibustion ; (12): 193-197, 2013.
Article in Chinese | WPRIM | ID: wpr-246270

ABSTRACT

<p><b>OBJECTIVE</b>To observe therapeutic efficacy of osteoarthritis treated by electroacupuncture, and explore its function of promoting cartilage restoration.</p><p><b>METHODS</b>According to random digital table, sixty cases of knee osteoarthritis (60 knees) were randomly divided into an electroacupuncture group and a physiotherapy group, 15 cases (30 knees) in each one. The electroacupuncture was applied at Neixiyan (EX-LE 4), Dubi (ST 35), Heding (EX-LE 2) and Xuehai (SP 10) in the electroacupuncture group, once every other day. The physiotherapy group was treated by medium-frequency therapeutic apparatus every day. For both groups, 4 weeks of treatment were required. The Lysholm knee scoring scale (LKSS) was used to evaluate and compare the knee joints function before and after treatment. At the same time, the GE Signa EXCITE Twin Speed HD 1.5T was used to take MRI examination of knee joints, and measure the T2 values in 10 sub-regions of the cartilage of tibiofemoral joints.</p><p><b>RESULTS</b>Compared before treatment, the LKSS score of both groups were improved with significant differences except item demands for support (P < 0.01, P < 0.05). Between the two groups after treatment, there were significant differences on total score, item instability and swelling (all P < 0.05), the electroacupuncture group was better than the physiotherapy group, but no significant difference on the other items (all P > 0.05). In the electroacupuncture group after treatment, T2 value in anterior lateral tibial sub-region (LTa) was significantly lowered (P < 0.05), but no significant difference in the other nine sub-regions (all P > 0.05). In the physiotherapy group, T2 value in any sub-region was not significantly different before and after treatment (all P > 0.05).</p><p><b>CONCLUSION</b>Electroacupuncture could effectively improve the symptom, sign and knee joint's function of patients with knee osteoarthritis. Compared with physiotherapy, it has more superior effect and considered as a better non-operative treatment for osteoarthritis. Electroacupuncture also has positive influence on T2 value in cartilage, indicating that electroacupuncture may have the function of promoting cartilage restoration.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Cartilage, Articular , Diagnostic Imaging , Electroacupuncture , Magnetic Resonance Imaging , Osteoarthritis, Knee , Diagnostic Imaging , Therapeutics , Radiography , Treatment Outcome
14.
Braz. j. med. biol. res ; 45(12): 1150-1156, Dec. 2012. ilus, tab
Article in English | LILACS | ID: lil-659639

ABSTRACT

Angiotensin II (Ang II) plays an important role in cardiomyocyte hypertrophy. The combined effect of hepatocyte growth factor (HGF) and Ang II on cardiomyocytes is unknown. The present study was designed to determine the effect of HGF on cardiomyocyte hypertrophy and to explore the combined effect of HGF and Ang II on cardiomyocyte hypertrophy. Primary cardiomyocytes were isolated from neonatal rat hearts and cultured in vitro. Cells were treated with Ang II (1 µM) alone, HGF (10 ng/mL) alone, and Ang II (1 µM) plus HGF (10 ng/mL) for 24, 48, and 72 h. The amount of [³H]-leucine incorporation was then measured to evaluate protein synthesis. The mRNA levels of β-myosin heavy chain and atrial natriuretic factor were determined by real-time PCR to evaluate the presence of fetal phenotypes of gene expression. The cell size of cardiomyocytes was also studied. Ang II (1 µM) increased cardiomyocyte hypertrophy. Similar to Ang II, treatment with 1 µM HGF promoted cardiomyocyte hypertrophy. Moreover, the combination of 1 µM Ang II and 10 ng/mL HGF clearly induced a combined pro-hypertrophy effect on cardiomyocytes. The present study demonstrates for the first time a novel, combined effect of HGF and Ang II in promoting cardiomyocyte hypertrophy.


Subject(s)
Animals , Rats , Angiotensin II/pharmacology , Hepatocyte Growth Factor/pharmacology , Myocytes, Cardiac/drug effects , Animals, Newborn , Cells, Cultured , Dose-Response Relationship, Drug , Hypertrophy/chemically induced , Hypertrophy/pathology , Myocytes, Cardiac/pathology , Rats, Sprague-Dawley , Real-Time Polymerase Chain Reaction , RNA, Messenger/genetics , RNA, Messenger/metabolism
15.
Chinese Journal of Pancreatology ; (6): 329-332, 2012.
Article in Chinese | WPRIM | ID: wpr-420395

ABSTRACT

Objective To investigate the expression and significance of E-selectin in lung tissue of rat of acute necrotizing pancreatitis (ANP)-induced lung injury.Methods Rats were randomly divided into control and ANP groups.ANP model was induced by retrograde injection of sodium taurocholate into the biliary and pancreatic duct.The rats were sacrificed at 3,6,12 and 24 h.Serum amylase,albumin,Ca2+ and lung wet/dry (W/D) weight ratio were determined,and pancreas and lung tissues underwent routine pathological examination and histopathological scores were evaluated.The expression of E-selectin mRNA and protein in lung tissue of rat was measured by real-time fluorescence quantitative RT-PCR and immunohistochemistry.Results In ANP group at 6h,the serum level of amylase,histopathological scores of pancreas and lung tissues,lung W/D weight ratio were (3978 ± 476) U/L,8.22 ± 0.63,( 12.31 ± 1.58,5.21 ± 0.20,which were significantly higher than those in control group [ (843 ± 90)U/L,0.22 ± 0.36,0.13 ± 0.34,4.46 ±0.17,P < 0.05 or < 0.01 ],the serum level of albumin was (12.9 ± 1.0)g/L,which was significantly lower than that in control group [ ( 15.6 ± 0.7 ) g/L,P < 0.01 ],the serum level of Ca2 + at 12 h was ( 2.33 ±0.15) mmoL/L,which was significantly lower than that in control group [(2.57 ± 0.23)mmoL/L,P < 0.01 ].E-selectin was located in the cell membrane and cytoplasm of vascular endothelial cells.Expression of E-seleetin mRuNA and protein in the lung tissue at 6h was significantly higher than those in control group (3.51 ±0.45 vs 0.95 ± 0.16,0.174 ± 0.019 vs 0.060 ± 006,P < 0.01 ).Conclusions Pulmonary expression of E-selectin of vascular endothelial cell is significantly up-regulated in a time dependant manner when ANPinduced ALI occurs; and it is involved in leukocyte mural and extravasation,and can promote lung injury.

16.
IJFS-International Journal of Fertility and Sterility. 2012; 5 (4): 259-262
in English | IMEMR | ID: emr-163655

ABSTRACT

Fetal dural sinus thrombosis is a rare finding. Most cases have been terminated without long-term follow-ups. Recently some reports have indicated the potentially favorable evolution of fetal dural sinus thrombosis. Most of the fetuses showing symptoms have been delivered with normal neurologic outcome. We report a case of fetal dural sinus thrombosis. Serial ultrasound and magnetic resonance images [MRI] showed the shrinkage of the thrombosis which indicated good prognosis. No physical or neurological abnormality was observed at 8-months follow-up. Conservative treatment is appropriate to prenatally diagnosed dural sinus thrombosis with favorable prognostic factors. Serial MRI or ultrasound should be taken every 1-2 months to monitor the thrombosis development and fetal well-beings


Subject(s)
Humans , Female , Adult , Sinus Thrombosis, Intracranial/therapy , Fetus , Prenatal Diagnosis , Pregnancy , Review Literature as Topic
17.
Chinese Journal of Perinatal Medicine ; (12): 277-282, 2011.
Article in Chinese | WPRIM | ID: wpr-412578

ABSTRACT

Objective To investigate the effect of different amplification methods and probes with various length on the results of comparative genomic hybridization (CGH) analysis of pre-implanted single blastomere and to establish the basis for preimplantation genetic diagnosis.Methods Twenty blastomeres of embryo at 6-8 cells stage were randomly divided into A and B group with 10 in each.Twenty peripheral blood lymphocytes from a healthy man were similarly divided into C and D group with 10 in each.Degenerate oligonucleotide primed polymerase chain reaction (DOP-PCR) was used to amplify whole genomic DNA in group A and C,and multiple displacement amplification (MDA) was used in group B and D for whole genome amplification (WGA).The specificity of resultant products was confirmed by amplification of TBX1 gene exon 2.CGH was performed respectively with 250-750 bp and 750-2000 bp probes prepared from the amplified whole genomic DNA.The result of CGH was verified by sex-determining region of Y (SRY).Results (1) Nine of the 10 samples in group A and all in group C were amplifiable by DOP-PCR,but there were multiple non-specific bands in the amplification of TBX1 exon 2 when WGA products were used as templates.When 250~750 bp probe was used in CGH,1 of the 5 blastomeres was failed and another one had different karyotype from that analyzed by SRY.(2) All samples in group B and D were successfully amplified by MDA,and the non-specific bands were significantly less in the amplification of TBX1 exon 2.All 5 blastomeres were successful in CGH with the 250~750 bp probe.Moreover,the karyotype was in agreement with that of SRY.(3) When 750 ~ 2000 bp probe was used,the CGH results were suboptimal.Conclusions In WGA of single blastomere,MDA is superior to DOP-PCR in the stability and specificity.The karyotype image detected by CGH with the 250~750 bp probe is clear and homogenous.

18.
National Journal of Andrology ; (12): 244-249, 2010.
Article in Chinese | WPRIM | ID: wpr-252822

ABSTRACT

<p><b>OBJECTIVE</b>The Ala499Val (C > T) and Lys939Gln (A > C) of the XPC gene are two potentially functional nonsynonymous polymorphisms, which affect the rate of DNA repair and might change XPC production and activity. This study aimed to explore the distribution of these two polymorphisms in the Chinese Han population and their relationship with male infertility.</p><p><b>METHODS</b>We genotyped the two polymorphisms of the XPC gene by the PCR-restriction fragment length polymorphism (PCR-RFLP) method in 318 infertile patients and 228 fertile male controls, detected the frequency of the alleles, and analyzed both the individual and the joint contribution of the two polymorphisms to male infertility.</p><p><b>RESULTS</b>For the Ala499Val (C > T) polymorphism, the frequencies of the CC, CT, and TT genotypes were significantly different in distribution between the patients and the controls (P = 0.020). Males with the TT genotype had a lower risk of male infertility than those with the CC genotype (adjusted OR = 0.49, 95% CI: 0.23-0.88), and even lower than those with both CC and CT genotypes (adjusted OR = 0.39, 95% CI: 0.22-0.71). The Lys939Gln (A > C) polymorphism was not related with male infertility. The combined genotype analysis showed that the individuals with 1-4 risk alleles had a significantly higher risk of male infertility (adjusted OR = 2.75, 95% CI = 1.50-5.04) than those with 0 risk allele.</p><p><b>CONCLUSION</b>The Ala499Val (C > T) polymorphism of the XPC gene is correlated with male infertility and may be a potential genetic risk factor for male infertility in the Chinese Han population.</p>


Subject(s)
Adult , Humans , Male , Alleles , Asian People , Genetics , Case-Control Studies , DNA Repair , DNA-Binding Proteins , Genetics , Gene Frequency , Genetic Predisposition to Disease , Genotype , Infertility, Male , Genetics , Polymorphism, Genetic , Risk Factors
19.
Acta Academiae Medicinae Sinicae ; (6): 666-670, 2010.
Article in Chinese | WPRIM | ID: wpr-341478

ABSTRACT

<p><b>OBJECTIVE</b>To explore the clinical value of "triple-rule-out" protocols using dual-source computed tomography for aortic dissection (AD) assessment.</p><p><b>METHODS</b>Totally 25 patients suspecting of suffering from AD were examined on a dual-source computed tomography scanner. Two-dimensional and three-dimensional reconstruction was performed in all patients by means of multiplanar reconstruction, curved planar reformation, maximum intensity projection, and volume rendering. All images were read by two experienced radiologists in consensus. All patients were divided into AD group (n=12) and NO AD group (n=13) , The average Hounsfield unit values of true and false lumen were compared between superior of the aortic around the first endoleak and inferior of the aortic around renal artery.</p><p><b>RESULTS</b>In AD group, there were 6 patients with DeBakey type 1, 2 patients with DeBakey type 2, and 4 patients with DeBakey type 3. The image quality was rated on a 3-point scale as excellent in 10 patients (83.3%) and good in 2 patients (16.7%) . All cases was fully evaluable in NO AD group. The average Hounsfield unit values of true lumen between superior of the aortic around the first endoleak and inferior of the aortic around renal artery showed no significant difference between AD and NO AD group.</p><p><b>CONCLUSION</b>Dual-source computed tomography offers a non-invasive, accurate, and rapid way to evaluate AD.</p>


Subject(s)
Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Aortic Dissection , Diagnostic Imaging , Angiography , Methods , Aortic Aneurysm , Diagnostic Imaging , Tomography, X-Ray Computed , Methods
20.
Chinese Journal of Surgery ; (12): 1145-1147, 2009.
Article in Chinese | WPRIM | ID: wpr-299712

ABSTRACT

<p><b>OBJECTIVE</b>To report the experience of surgical resection of Bismuth-Corlette type I and II hilar cholangiocarcinoma.</p><p><b>METHODS</b>From January 1998 and January 2008, 52 cases of Bismuth-Corlette type I and II hilar cholangiocarcinoma were operated on. The clinical data and long-term outcome of the patients was retrospectively analyzed.</p><p><b>RESULTS</b>Of the 52 cases, 44 cases (84.6%) received operation, 28 patients underwent radical resection (63.6%) and 16 patients (36.4%) underwent palliative resection.Seven patients were resected on caudate lobe and other section and lobe of the liver; among them, 2 patients received combined portal vein resection and 4 underwent combined hepatic artery resection respectively. Eleven cases developed postoperative complications and another one died in hospital. The median survival was 33.2 months in radical resection group, and 1-, 3-, 5-year survival rate was 82.6%, 47.8%, 34.7%, respectively, which was significant greater than those in the palliative resection group (41.6%, 16.6%, 8.3%, respectively) (P < 0.05). The median survival was 16.7 months in the palliative resection group.</p><p><b>CONCLUSIONS</b>The radical resection is still the best treatment for Bismuth-Corlette type I and II hilar cholangiocarcinoma. Intraoperative pathology for resection margin, and combined liver resection, portal vein resection and hepatic artery resection can help improve the radical resection rate.</p>


Subject(s)
Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Bile Duct Neoplasms , General Surgery , Bile Ducts, Intrahepatic , Cholangiocarcinoma , General Surgery , Follow-Up Studies , Hepatectomy , Hepatic Artery , General Surgery , Portal Vein , General Surgery , Prognosis , Retrospective Studies , Survival Rate
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