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1.
Annals of the Academy of Medicine, Singapore ; : 71-79, 2023.
Article in English | WPRIM | ID: wpr-970013

ABSTRACT

INTRODUCTION@#To compare epidemiological features and clinical presentations of deep infiltrating endometriosis with endometrioma and adenomyosis, as well as to identify risk factors for the respective histologically confirmed conditions.@*METHOD@#Patients undergoing index surgery at the National University Hospital, Singapore for endometriosis or adenomyosis over a 7-year period-from 2015 to 2021-were identified from hospital databases using the Table of Surgical Procedures coding. Social and epidemiological features of cases with histologically confirmed diagnoses of endometrioma only, adenomyosis only, and deep infiltrating endometriosis were compared. Significant variables from univariate analysis were entered into 3 binary multivariate logistic regression models to obtain independent risk factors for: deep infiltrating endometriosis versus endometrioma only, deep infiltrating endometriosis versus adenomyosis only, and adenomyosis only versus endometrioma only.@*RESULTS@#A total of 258 patients were included with 59 ovarian endometrioma only, 47 adenomyosis only, and 152 deep infiltrating endometrioses. Compared to endometrioma only, deep infiltrating endometriosis was associated with higher rates of severe dysmenorrhoea (odds ratio [OR] 2.80, 95% confidence interval [CI] 1.02-7.70) and out-of-pocket private surgical care (OR 4.72, 95% CI 1.85-12.04). Compared to adenomyosis only, deep infiltrating endometriosis was associated with a higher fertility desire (OR 13.47, 95% CI 1.01-180.59) and a lower body mass index (OR 0.89, 95% CI 0.79-0.99). In contrast, heavy menstrual bleeding was the hallmark of adenomyosis, being less common in patients with endometriosis.@*CONCLUSION@#Deep infiltrating endometriosis is associated with severe dysmenorrhoea, pain related to urinary and gastrointestinal tracts, higher fertility desire and infertility rate. Patients with pain symptomatology and subfertility should be referred early to a tertiary centre with the capability to diagnose and manage deep infiltrating endometriosis.


Subject(s)
Female , Humans , Endometriosis/surgery , Adenomyosis/surgery , Dysmenorrhea/etiology , Risk Factors , Databases, Factual
2.
China Occupational Medicine ; (6): 621-625, 2022.
Article in Chinese | WPRIM | ID: wpr-976086

ABSTRACT

@#Objective ( ) To investigate the association between urinary polycyclic aromatic hydrocarbons PAHs metabolites - Methods and high normal blood pressure in coke oven workers. A total of 433 coke oven workers were selected as the study - subjects using convenient sampling method. They were divided into normal blood pressure group and high normal blood pressure group according to their blood pressure level. The levels of ten kinds of urinary hydroxylated PAHs metabolites were measured by - Results - high performance liquid chromatography mass spectrometry. Among the subjects,57.5% had high normal blood - , - , - pressure. The levels of 1 hydroxynathalene 2 hydroxyphenanthrene 1 hydroxyphenanthrene and the metabolite of total PAHs - ( P ) in the high normal blood pressure group were higher than those in the normal blood pressure group all <0.05 . The results of - , - , - , the multivariate logistic regression analysis showed that urinary 1 hydroxynathalene 2 hydroxyfluorene 3 hydroxychrysene - ( P ), and metabolite of total PAHs were all risk factors for high normal blood pressure in coke oven workers all <0.05 after , , , , , adjusting for confounding factors such as gender length of service body mass index smoking index alcohol consumption tea , , , Conclusion consumption night shift exercise frequency and other PAHs metabolites. Exposure to PAHs in coke oven plants may increase the risk of elevated blood pressure within the normal range among coke oven workers.

3.
Chinese Journal of Burns ; (6): 306-312, 2022.
Article in Chinese | WPRIM | ID: wpr-936011

ABSTRACT

Objective: The surgical reconstruction strategy for scar contracture deformity in chin and neck was explored, aiming to obtain better aesthetic outcome. Methods: A retrospective observational study was conducted. From December 2017 to April 2021, 34 patients with scar contracture deformity in chin and neck after burns were hospitalized in the Department of Plastic Surgery of the First Affiliated Hospital of Army Medical University (the Third Military Medical University), aged 12-54 years, including 13 males and 21 females, 4 cases with chin affected only, 7 cases with neck affected only, and 23 cases with both chin and neck affected. The scar areas were 48-252 cm2. All the patients were treated by operation with expanded flaps, following the "MRIS" principle of matching of the color and thickness of the repair flaps (match), reconstructing of the aesthetic features of subunits (reconstruction), design of incision according to the plastic principle (incision), and prevention of the surgical incision scar (scar). The rectangular or kidney shaped skin and soft tissue expander (hereinafter referred to as the expander) with rated capacity of 80-400 mL was embedded in the first stage, which was routinely expanded to 3-5 times of the rated capacity of the expander. In the second stage, scar resection and expanded flap excision were performed to repair the secondary wound, and the flap donor site was sutured directly. The expansion ratio of the expander (with average value being calculated), the type of flaps used, the reconstruction of local aesthetic morphology, the appearance of postoperative incision, the survival of flap, and the situation of donor and recipient sites observed during follow-up were recorded. Results: Among the 34 patients, the average expansion ratio of the implanted expander was 3.82 times of the rated capacity of the expander. Three cases were repaired by the expanded local pedicled flap only, 19 cases by the expanded shoulder and/or chest perforator pedicled flap only, 10 cases by the expanded local pedicled flap combined with the expanded shoulder and/or chest perforator pedicled flap, and 2 cases by the expanded local pedicled flap combined with the expanded free flap of the second intercostal perforator of internal thoracic artery. After scar resection, the shapes of lower lip and chin-lip groove were reconstructed in 10 cases, chin process reconstruction and chin lengthening were performed in 16 cases, and the cervico-mental angle and mandibular margin contour were reconstructed in 28 cases. The surgical incision was concealed, most of which were located at the natural junction or turning point of the chin and neck subunits. The vertical incision of neck was Z-shaped or fishtail-shaped. All the expanded flaps in 34 patients survived after operation, of which 8 patients had minor necrosis at the edge or tip of the expanded flaps 1-3 days after operation and healed after dressing change. During the follow-up of 3-18 months, little difference in color and thickness between the expanded flap and the skin of chin and neck was observed, and the aesthetic shape of chin and neck was significantly improved, with mild scar hyperplasia of surgical incision. Conclusions: Reconstruction of scar contracture deformity in chin and neck by using expanded flaps based on the "MRIS" principle is beneficial to improve the quality of surgery and achieve better aesthetic outcome.


Subject(s)
Female , Humans , Male , Chin/surgery , Cicatrix/surgery , Contracture/surgery , Free Tissue Flaps , Perforator Flap , Plastic Surgery Procedures , Skin Transplantation , Surgical Wound , Treatment Outcome
4.
International Eye Science ; (12): 1079-1084, 2022.
Article in Chinese | WPRIM | ID: wpr-929483

ABSTRACT

AIM: To investigate the effect of modified Zhujing pill on retinal autophagy in mice with form deprivation myopia.METHODS: Thirty C57BL/6 mice were randomly divided into a negative control group, a myopia model group and a traditional Chinese medicine intervention group, with 10 mice in each group. Except for the negative control group, all mice in the myopia model group and the traditional Chinese medicine intervention group used translucent EP tubes to cover their right eyes to make a form deprivation myopia(FDM)model; The traditional Chinese medicine intervention group gavage Zhujing pill modified suspension 0.546g/(kg·d)(0.15mL/d), the negative control group and the myopia model group were given an equal amount of normal saline(0.15mL/d)for 4wk. At the beginning and the end of the experiment respectively, the right eye diopter of the mouse was measured with a strip retinoscope, measurement of the axial length of the right eye of mouse by A-ultrasound. At the end of the experiment, the right eyes of all mice were taken for detection, and immunofluorescence method was used to locate and detect the activity and migration of the retinal microglia marker(Iba1); Transmission electron microscope observation of autophagosome formation in retinal pigment epithelial cells; Western Blot, real-time fluorescent quantitative PCR(q-PCR)to detect the autophagy marker LC3Ⅱ and p62 protein quantitative and gene expression in retinal tissues.RESULTS: At the end of the experiment, the refractive power of the right eyes of mice showed that the myopia model group and the traditional Chinese medicine intervention group formed relative myopia, the myopia model group and the traditional Chinese medicine intervention group were significantly lower than those of the negative control group(all P&#x003C;0.01). At the end of the experiment, the axial length of the myopia model group and the Chinese medicine intervention group were significantly increased compared with the negative control group(P&#x003C;0.01). Immunofluorescence method for locating and detecting Iba1 showed that the average optical density of Iba1 in the retina of the myopia model group increased the most obviously, followed by the increase in the negative control group, and the decrease in the traditional Chinese medicine intervention group. Compared with the negative control group, the myopia model group increased significantly(P&#x003C;0.05), and the traditional Chinese medicine intervention group was significantly lower than the myopia model group(P&#x003C;0.05). It was found that Iba1 migrated to the ganglion cell layer in the myopia model group and the traditional Chinese medicine intervention group. Transmission electron microscopy showed that autophagosomes were observed in the retinal pigment epithelial cells of the myopia model group and the Chinese medicine intervention group. The results of Western Blot and q-PCR showed that the expression of LC3Ⅱ and p62 increased most obviously in the traditional Chinese medicine intervention group, followed by the myopia model group, and the negative control group was the lowest.CONCLUSION: The results of the study show that modified Zhujing pill may enhance retinal autophagy in mice with FDM by inhibiting the activation of microglia.

5.
Journal of Peking University(Health Sciences) ; (6): 31-39, 2022.
Article in Chinese | WPRIM | ID: wpr-936109

ABSTRACT

OBJECTIVE@#To investigate the effect of porous surface morphology of zirconia on the proliferation and differentiation of osteoblasts.@*METHODS@#According to different manufacturing and pore-forming methods, the zirconia specimens were divided into 4 groups, including milled sintering group (M-Ctrl), milled porous group (M-Porous), 3D printed sintering group (3D-Ctrl) and 3D printed porous group (3D-Porous). The surface micromorphology, surface roughness, contact angle and surface elements of specimens in each group were detected by scanning electron microscope (SEM), 3D laser microscope, contact angle measuring device and energy-dispersion X-ray analysis, respectively. MC3T3-E1 cells were cultured on 4 groups of zirconia discs. The cell morphology of MC3T3-E1 cells on zirconia discs was eva-luated on 1 and 7 days by SEM. The cell proliferation was detected on 1, 3 and 5 days by cell counting kit-8 (CCK-8). After osteogenic induction for 14 days, the relative mRNA expression of alkaline phosphatase (ALP), type Ⅰ collagen (Colla1), Runt-related transcription factor-2 (Runx2) and osteocalcin (OCN) in MC3T3-E1 cells were detected by real-time quantitative polymerase chain reaction.@*RESULTS@#The pore size [(419.72±6.99) μm] and pore depth [(560.38±8.55) μm] of 3D-Porous group were significantly larger than the pore size [(300.55±155.65) μm] and pore depth [(69.97±31.38) μm] of M-Porous group (P < 0.05). The surface of 3D-Porous group appeared with more regular round pores than that of M-Porous group. The contact angles of all the groups were less than 90°. The contact angles of 3D-Ctrl (73.83°±5.34°) and M-Porous group (72.7°±2.72°) were the largest, with no significant difference between them (P>0.05). Cells adhered inside the pores in M-Porous and 3D-Porous groups, and the proliferation activities of them were significantly higher than those of M-Ctrl and 3D-Ctrl groups after 3 and 5 days' culture (P < 0.05). After 14 days' incubation, ALP, Colla1, Runx2 and OCN mRNA expression in 3D-Porous groups were significantly lower than those of M-Ctrl and 3D-Ctrl groups (P < 0.05). Colla1, Runx2 and OCN mRNA expressions in M-Porous group were higher than those of 3D-Porous group (P < 0.05).@*CONCLUSION@#The porous surface morphology of zirconia can promote the proliferation and adhesion but inhibit the differentiation of MC3T3-E1 cells.


Subject(s)
Cell Differentiation , Cell Proliferation , Ceramics , Osteoblasts , Osteogenesis , Porosity , Zirconium
6.
Chinese Journal of Perinatal Medicine ; (12): 65-70, 2021.
Article in Chinese | WPRIM | ID: wpr-885517

ABSTRACT

Fetal alloimmune thrombocytopenia (FAIT) is a severe perinatal complication, which can seriously affect fetal development, and may even lead to intrauterine hemorrhage and intrauterine death. There are controversies in the clinical diagnosis and treatment of the disease due to its low incidence and limited treatment experience. This paper reviews the progress to date in understanding the condition, incidence, screening of high-risk factors, prenatal and delivery management of FAIT based on domestic and foreign guidelines, in order to help obstetricians in the clinical management of FAIT.

7.
Chinese Journal of Cardiology ; (12): 380-386, 2021.
Article in Chinese | WPRIM | ID: wpr-941290

ABSTRACT

Objective: To investigate the effect of bare-metal stent related technique on distal aortic dissection involving abdominal visceral segment. Methods: A retrospective analysis was performed on clinical data of 33 patients with distal aortic dissection involved abdominal visceral segment, who hospitalized in the Vascular Surgery Department of Shanghai Changhai Hospital from July 2012 to September 2019. The effect of the treatment was evaluated according to the clinical and preoperative, intraoperative and follow-up imaging data derived from (aorta computed tomography angiography (CTA) and digital subtraction angiography (DSA)) as well as the changes of the maximal diameter of the aorta and the thrombosis of the false lumen of the dissection. The criteria were as follows: the maximum diameter change of aortic dissection<5 mm was defined as stable; the maximum diameter decrease of aortic dissection≥5 mm was defined as effective reduction; the maximum diameter increase of aortic dissection≥5 mm was defined as expansion; the definition of diameter change of false lumen was the same as above. The hospital complications, clinical symptoms and survival were recorded. Results: There were 28 male patients in this cohort, the mean age was (57.6±4.9) years old. Twenty-one patients were treated with bare-metal stent and coils technique, of which 8 patients were jointly treated with stent grafts. Twelve patients were treated with multi-layer bare-metal stent technique, of which 4 patients were jointly treated with stent grafts. Intraoperative DSA image results showed that the visceral arteries were patent during the treatment, and the blood flow velocity of the false lumen was reduced in all 33 patients. There were no adverse events such as distal outflow tract embolism and coil displacement during the operation. During the period of hospitalization, one patient developed intimal rupture of subrenal abdominal aortic dissection on the fourth day after operation and emergency endovascular graft exclusion was performed for abdominal aortic dissection, and the patient recovered well from the emergency operation. The follow-up time was (16.7±14.0) months. One patient died 1 year after surgery due to non-disease-related factors. Follow-up CTA imaging results showed that the maximum diameter of the aorta in abdominal visceral segment tended to be smaller ((39.1±13.4) mm vs. (41.3±11.9) mm, P=0.469), and the maximum diameter of the false lumen was significantly reduced ((16.2±12.9) mm vs. (23.5±10.7) mm, P=0.014). The maximum diameter of the aortic dissection was reduced in 12 cases, stable in 19 cases, expanded in 2 cases. The maximum diameter of the false lumen was effectively reduced in 22 cases, stable in 10 cases, and expanded in 1 case. Four patients developed small endoleak in the false lumen, one of them was nearby the renal artery stent, and the remaining patients experienced complete thrombosis of the false lumen. Conclusions: Endovascular treatment of distal aortic dissection involving abdominal visceral segment with bare-metal stents related technique could promote the shrink and the thrombosis of the false lumen, and slow down the blood flow from the tear into the false lumen in the setting of patency of visceral arteries.


Subject(s)
Humans , Male , Middle Aged , Aortic Dissection/surgery , Aortic Aneurysm, Thoracic/surgery , Aortography , Blood Vessel Prosthesis Implantation , China , Endovascular Procedures , Retrospective Studies , Stents , Treatment Outcome
8.
Malaysian Journal of Public Health Medicine ; : 175-183, 2020.
Article in English | WPRIM | ID: wpr-825277

ABSTRACT

@#Stress in medical education has been inevitable among medical students. However, the prevalence of stress among pre-clinical and clinical medical students differed by year of study. There were several stressors reported to affect medical students. Therefore, effective coping strategies were applied to manage the stress faced by medical students. The aim of this study was to determine the prevalence of stress, stressors and coping strategies comparing pre-clinical and clinical Universiti Tunku Abdul Rahman (UTAR) medical students, and the associated stressors and stress among them. This was a cross-sectional study with a study population of 223 medical students. Universal sampling was used. A self-administered questionnaire which included socio-demographic characteristics, the General Health Questionnaire (GHQ-12), the Medical Students Stressor Questionnaire (MSSQ) and the Brief COPE Inventory were used in this study. The overall prevalence of stress among medical students was 48.15%. Clinical students had a higher prevalence of stress (53.73%) compared to pre-clinical students (39.02%). Year 3 students had the highest prevalence of stress (64.58%) compared to other years of study. Nearly 1 out of 2 medical students were stressed (48.15%). Academic Related Stressor ranked the highest and Acceptance was the most practiced coping strategy. The only associated stressor with stress was Academic Related Stressor.

9.
Chinese Journal of Contemporary Pediatrics ; (12): 944-949, 2018.
Article in Chinese | WPRIM | ID: wpr-776688

ABSTRACT

A boy aged 6 years and 3 months developed upper respiratory tract infection and pyrexia 2 months ago and was given oral administration of nimesulide by his parents according to directions. Half an hour later, the boy experienced convulsions and cardiopulmonary arrest, and emergency examination found hypoketotic hypoglycemia, metabolic acidosis, significant increases in serum aminotransferases and creatine kinase, and renal damage. Recovery of consciousness and vital signs was achieved after cardiopulmonary resuscitation, but severe mental and movement regression was observed. The boy had a significant reduction in free carnitine in blood and significant increases in medium- and long-chain fatty acyl carnitine, urinary glutaric acid, 3-hydroxy glutaric acid, isovalerylglycine, and ethylmalonic acid, suggesting the possibility of multiple acyl-CoA dehydrogenase deficiency. After the treatment with vitamin B2, L-carnitine, and bezafibrate, the boy gradually improved, and reexamination after 3 months showed normal biochemical parameters. The boy had compound heterozygous mutations in the ETFDH gene, i.e., a known mutation, c.341G>A (p.R114H), from his mother and a novel mutation, c.1484C>G (p.P495R), from his father. Finally, he was diagnosed with multiple acyl-CoA dehydrogenase deficiency. Reye syndrome and sudden death symptoms were caused by nimesulide-induced acute metabolic crisis. It is concluded that inherited metabolic diseases may be main causes of Reye syndrome and sudden death, and biochemical and genetic analyses are the key to identifying underlying diseases.


Subject(s)
Child , Humans , Male , Acyl-CoA Dehydrogenase , Administration, Oral , Carnitine , Death, Sudden , Respiratory Tract Infections , Reye Syndrome , Sulfonamides
10.
International Journal of Laboratory Medicine ; (12): 2091-2093, 2017.
Article in Chinese | WPRIM | ID: wpr-608786

ABSTRACT

Objective To investigate the differences of 10-week running and badminton exercise on bone mineral density(BMD) and related biochemistry markers in female university student.Methods Sixty healthy female university students were randomly divided into running(R) group,badminton(B) group and control group.Apart from basic physical education class,the R and B group participated in running and badminton exercise respectively(30-40 min per time,3 times per week,10 weeks).Before and after test,the BMD of lumbar vertebra and femurs,the serum level of estradiol(E2) and testosterone(T),the serum level of alkaline phosphatase(ALP)and tartrate resistant acid phosphatase(TRACP) were all detected.Results After test,there were no significant difference on BMD in all parameters of the three groups(P>0.05).After test,the serum level of E2 and TRACP in R group were significant higher than those in control group(t=-3.351,t=-0.854,P<0.05),the serum level of Ca was significant lower than that in control group(t=-1.852,P<0.05).Comparison between before test and after test,the serum level of E2 and P increased significantly in R group(P<0.05),while the serum level of TRACP decreased significantly(P<0.05),the serum level of P and Ca increased in the three groups(P<0.05),while no differences were seen in the other parameters.Conclusion The effects of running exercise on serum level of E2 and TRACP were higher than badminton exercise.

11.
Chinese Medical Equipment Journal ; (6): 84-87, 2017.
Article in Chinese | WPRIM | ID: wpr-699908

ABSTRACT

Objective To execute physical performance testing of Mobetron 2000 mobile intraoperative radiotherapy system.Methods Mobetron 2000 mobile intraoperative radiotherapy system had its indexes measured according to TG51 protocol such as percent depth dose (PDD),output dose,beam energy,field flatness and symmetry,X-ray pollution,dose linearity and repeatability.Three-dimensional water phantom was used for verification and acceptance when the measurement was executed,while the calimator end was tangent to the water surface and the nominal ource-skin distance was 50 cm.Results All the indexes of the system met the desired requirements except 12 MeV beam energy.Conclusion The system can be promoted clinically for safe,reliable and efficient treatment.

12.
China Journal of Chinese Materia Medica ; (24): 3755-3760, 2017.
Article in Chinese | WPRIM | ID: wpr-335788

ABSTRACT

In this study, an analytical method based on ultraviolet spectroscopy was established for the rapid determination of nine components including isophorone, 4-methylene-isophorone, curcumenone, curcumenol, curdione, curzerenone, furanodienone, curcumol and germacrone in the first extraction process of Xingnaojing injection. 166 distillate samples of Gardeniae Fructus and Radix Curcumae were collected in the first extraction process of Xingnaojing injection. The ultraviolet spectra of these samples were collected, and the contents of the nine components in these samples were determined by high performance liquid chromatography. Least squares support vector machine and radial basis function artificial neural network were used to establish the multivariate calibration models between the ultraviolet spectra and the contents of the nine components. The results showed that the established ultraviolet spectrum analysis method can determine the contents of the nine components in the distillates accurately, with root mean square error of prediction of 0.068, 0.147, 0.215, 0.319, 1.01, 1.27, 0.764, 0.147, 0.610 mg•L⁻¹, respectively. This proposed method is a rapid, simple and low-cost tool for the monitoring and endpoint determination of the extraction process of Xingnaojing injection to reduce quality defects and variations.

13.
Chinese Traditional and Herbal Drugs ; (24): 767-770, 2016.
Article in Chinese | WPRIM | ID: wpr-853672

ABSTRACT

Objective: To optimize the processing conditions of Maxing Antitussive and Antiasthmatic Grannule (MAAG). Methods: The influence of different excipients including lactose, soluble amylum, and dextrine, and usage amount of soluble amylum to hygroscopicity of powdered extract was investigated; Processing conditions were optimized by orthogonal test, flowability, and hygroscopicity were investigated. Taking forming rate, solubility, and absorption rate as indexes, the materials added prescription varieties, ratio, and optimum molding process were screened. Results: The particles sugar plus dextrin as excipients were superior to dextrin or sugar or soluble starch as excipient particles; The optimized conditions were obtained with: main drug-accessories (1:2), accessories for the dextrin-powdered sugar (1:1), with 80% ethanol as wetting agent which accounted for 14% of the main drug. Conclusion: The selected accessories in MAAG is reasonable and forming process is feasible. This research provides the basis for the establishment of forming technique and control of production environment of MAAG.

14.
China Journal of Chinese Materia Medica ; (24): 1725-1731, 2016.
Article in Chinese | WPRIM | ID: wpr-250498

ABSTRACT

To investigate the effect of Fuzheng Huayu capsule(FHC) on serum metabolomics in rats with liver fibrosis induced by dimethylnitrosamine(DMN). The metabolic profiles of rat serum of normal group, model group, and FHC group were established by liquid chromatography-mass spectrometry technology. Furthermore, the levels of endogenous metabolites such as amino acids and bile acids were measured in each group. The results showed that there were significant differences in the serum metabolic fingerprints between the FHC group and the model group. Moreover, 5 potential lysophosphatidylcholines biomarkers were identified by using principal component analysis(PCA) and partial least squares discriminant analysis (PLS-DA). Quantitative analysis of amino acids and bile acids in serum of rats showed that 14 kinds of amino acids and 5 kinds of bile acids returned to normal levels after four weeks of FHC treatment. In conclusion, the anti-hepatic fibrosis mechanisms of FHC may be related to the metabolic process of lysophosphatidylcholines, amino acids and bile acids.

15.
Chinese Journal of Contemporary Pediatrics ; (12): 67-71, 2016.
Article in Chinese | WPRIM | ID: wpr-279895

ABSTRACT

This study reports a boy with psychomotor retardation and epilepsy due to maternal phenylketonuria (PKU). The boy was admitted at the age of 20 months because of psychomotor retardation and epilepsy. He had seizures from the age of 1 year. His development quotient was 43. He presented with microcephaly, normal skin and hair color. Brain MRI scan showed mild cerebral white matter demyelination, broadening bilateral lateral ventricle and foramen magnum stricture. Chromosome karyotype, urine organic acids, blood amino acids and acylcarnitines were normal. His mother had mental retardation from her childhood. She presented with learning difficulties and yellow hair. Her premarriage health examinations were normal. She married a healthy man at age of 26 years. When she visited us at 28 years old, PKU was found by markedly elevated blood phenylalanine (916.54 μmol/L vs normal range 20-120 μmol/L). On her phenylalanine hydroxylase (PAH) gene, a homozygous mutations c.611A>G (p.Y204C) was identified, which confirmed the diagnosis of PAH-deficient PKU. Her child carries a heterozygous mutation c.611A>G with normal blood phenylalanine. Her husband had no any mutation on PAH. It is concluded that family investigation is very important for the etiological diagnosis of the children with mental retardation and epilepsy. Carefully clinical and metabolic survey should be performed for the parents with mental problems to identify parental diseases-associated child brain damage, such as maternal PKU.


Subject(s)
Adult , Female , Humans , Infant , Male , Pregnancy , Epilepsy , Intellectual Disability , Phenylalanine Hydroxylase , Genetics , Phenylketonuria, Maternal
16.
International Eye Science ; (12): 223-227, 2015.
Article in Chinese | WPRIM | ID: wpr-637175

ABSTRACT

Age-related macular degeneration ( AMD ) is a kind of age-related blinding degenerative fundus lesions, totally about 30 million patients suffering from AMD all over the world, with about 500 000 people blind for it yearly. As the development of economy and the aging of the population intensified, incidence of AMD indicates a trend of rising year by year, being the third major cause of blindness in our country. At present, the pathogenesis of AMD is not fully clear, as reported it may be related to oxidative stress, inflammatory immune response, VEGF and genetic manipulation. Clinical treatments mainly include photodynamic therapy, drug therapy, radiation therapy, laser photocoagulaory operation, the pupil warm treatments, Chinese medicine and intravitreous injection VEGF antagonists such as Ranibizumab, Conbercept and so on. ln this issue, we mainly expound on the progress in the epidemiological studies of AMD, especially elaborate the progress made on genetic manipulation in recent years.

17.
Chinese Journal of Tissue Engineering Research ; (53): 6889-6894, 2015.
Article in Chinese | WPRIM | ID: wpr-482000

ABSTRACT

BACKGROUND:Both calcium phosphate cement II and recombinant human bone morphogenetic protein have certain osteoinductive effects, which have the possibility of repairing tendon-bone interface injury. OBJECTIVE: To investigate the osteoinductive effect of calcium phosphate cement II and its biomechanics analysis of repairing tendon-bone interface injury. METHODS:Five out of 35 adult healthy New Zealand white rabbits were randomly selected and their bilateral shoulder joint tendon-bone interface specimens were taken as normal control group after being sacrificed. The remaining 30 rabbits were used to make animal models of tendon-bone interface injury and then randomly divided into experimental and model groups. Rabbits in the model group had no treatment, and those in the experimental group were treated with calcium phosphate cement II. RESULTS AND CONCLUSION: After repair with calcium phosphate cement II, the injured tendon-bone interface of rabbits was obviously restored, and the repair effect became better with time. The expression level of bone morphogenetic protein 2 was also increased accordingly. The maximum tensile strength and the maximum stiffness of the injured tendon-bone interface were obviously increased. These results demonstrate that calcium phosphate cement II combined with recombinant human bone morphogenetic protein has good osteoinductive and repair effect in repair of tendon-bone interface injury.

18.
Chinese Journal of Applied Physiology ; (6): 414-417, 2015.
Article in Chinese | WPRIM | ID: wpr-255000

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the effect of noninvasive positive pressure ventilation( NIPPy) on the gene and protein expression of biquitin-proteasome of skeletal muscle in patients with acute exacerbation of chronic obstructive pulmonary disease(AECOPD).</p><p><b>METHODS</b>Seven patients with AECOPD by NIPPV were used as the study group, meanwhile, 6 patients with AECOPD who refused NIPPV was the control group. The blood gas analysis, heart rate (HR) and mean arterial pressure (MBp) were monitored before and 14 days after treatment. A skeletal muscle biopsy was performed after 14 days of therapy. The mRNA expression of ribosomal protein S21 (RPS21), Ubiquitin, Ubiquitin combined with enzyme E2 (E2), Ubiquitin ligase E3 (E3) in skeletal muscle cell were measured by RT-PCR. The protein expression of mitochondrial aconitase (AC02), protease C3 (C3), ribosomal protein SLC16 (SLC16) were detected by Western blot.</p><p><b>RESULTS</b>Forteen days after treatment, the patients in NIPPV group got much better improvement in PaCO2, PaO2 and HR than that of the patients.in the control group (P < 0.05). The gene expression of RPS21,Ubiquitin, E2 and E3 in skeletal muscle cell on patients with NIPPV were obviously lower than that of the control group (P < 0.05, P < 0.01). Compared with that of the control group, the protein expression of C3 and AC2 increased significantly in the NIPPV group (P < 0.01). The protein expression of SLC16 was significantly lowered in the treated group (P < 0.01).</p><p><b>CONCLUSION</b>NIPPV can ameliorate the proteasome pathway and energy metabolic disorders in patients with AECOPD.</p>


Subject(s)
Humans , Muscle, Skeletal , Metabolism , Positive-Pressure Respiration , Proteasome Endopeptidase Complex , Metabolism , Pulmonary Disease, Chronic Obstructive , Metabolism , Therapeutics , Ubiquitin , Metabolism
19.
Chinese Journal of Contemporary Pediatrics ; (12): 1103-1106, 2015.
Article in Chinese | WPRIM | ID: wpr-279959

ABSTRACT

Methylmalonyl CoA mutase deficiency due to MUT gene defect has been known as the main cause of isolated methylmalonic acidemia in Mainland China. This study reported a patient with isolated methylmalonic aciduria (MUT type) characterized as acute brainstem encephalitis and myelitis. The previously healthy girl presented with fever, lethargy and progressive weakness in her extremities at the age of 3 years and 2 months. Three day later, she had respiratory distress and consciousness. Cranial MRI revealed bilateral symmetrical lesion of pallidum, brain stem and spinal cord, indicating acute brainstem encephalitis and myelitis. Her blood propionylcarnitine (6.83 μmol/L vs normal range 1.0 to 5.0 μmol/L) and urinary methylmalonic acid (133.22 mmol/mol creatinine vs normal range 0.2 to 3.6 mmol/mol creatinine) increased significantly. Plasma total homocysteine was normal. On her MUT gene, a reported mutation (c.1630_1631GG>TA) and a novel mutation (c.1663C>T, p.A555T) were identified, which confirmed the diagnosis of methylmalonic aciduria (MUT type). After cobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine, progressive improvement has been observed. The clinical manifestation of patients with methylmalonic aciduria is complex. Metabolic study and gene analysis are keys for the diagnosis and treatment of the disorder.


Subject(s)
Child, Preschool , Female , Humans , Acute Disease , Amino Acid Metabolism, Inborn Errors , Brain Stem , Pathology , Encephalitis , Methylmalonyl-CoA Mutase , Genetics , Mutation , Myelitis
20.
Chinese Journal of Contemporary Pediatrics ; (12): 172-175, 2015.
Article in Chinese | WPRIM | ID: wpr-346189

ABSTRACT

cblB defect is a rare type of methylmalonic aciduria. In this study, a Chinese boy was diagnosed with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene. The clinical presentations, blood acylcarnitines profiles, urine organic acids and genetic features of the patient were reported. The boy presented with fever, feeding difficulty and lethargy at the age of 2 months. Seven days later, he had coma, cold limb, thrombocytopenia, metabolic acidosis and liver damage. His blood propionylcarnitine and urinary methylmalonic acid levels increased significantly, but the plasma total homocysteine level was in the normal range, which supported the diagnosis of isolated methylmalonic aciduria. Gene analysis was performed by direct sequencing. No mutation in the MUT gene was found. However, a reported mutation c.577G>A (p.E193K) and a novel mutation c.562G>A (p.V188M) in the MMAB gene were identified, which confirmed the diagnosis of methylmalonic aciduria cblB type. Progressive clinical and biochemical improvement has been observed after hydroxylcobalamin injection, protein-restricted diet with the supplements of special formula and L-carnitine. He is currently 3 years and 11 months old and has a normal development condition. The phenotypes of the patients with cblB defect are nonspecific. Metabolic analysis and MMAB gene analysis are keys for the diagnosis of the disorder.


Subject(s)
Humans , Infant , Male , Alkyl and Aryl Transferases , Genetics , Amino Acid Metabolism, Inborn Errors , Genetics , Mutation
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