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1.
Chinese Journal of Preventive Medicine ; (12): 771-777, 2023.
Article in Chinese | WPRIM | ID: wpr-985471

ABSTRACT

Gestational diabetes mellitus (GDM) is associated with an increased risk of suffering diverse adverse pregnancy outcomes, threating maternal and child health seriously, with an increasing incidence rate year by year. However, the exact cause of GDM is still unknown. Prospective cohort studies obtain data through follow-up, which is helpful to clarify the causal relationship, so as to draw more accurate and reliable conclusions. In recent years, numerous prospective cohort studies on the GDM have emerged. This article elaborates along the occurrence and development process of GDM, in order to provide useful reference for the establishment of relevant high-quality prospective cohort studies in China.


Subject(s)
Pregnancy , Child , Female , Humans , Diabetes, Gestational/epidemiology , Prospective Studies , Pregnancy Outcome , Incidence , China/epidemiology , Risk Factors
2.
Chinese Journal of Pediatrics ; (12): 56-60, 2023.
Article in Chinese | WPRIM | ID: wpr-970236

ABSTRACT

Objective: To investigate the genetic and genomic profiling of juvenile myelomonocytic leukemia (JMML) and factors affecting its survival rate. Methods: Clinical characteristics, cytogenetics, molecular biology results and survival status of children with 27 JMML cases admitted to the Hematology Department of Children's Hospital, Capital Institute of Pediatrics from December 2012 to December 2021 were analyzed retrospectively, and the outcomes of the children were followed up. Kaplan-Meier method was used for survival analysis. Univariate analysis was used for analyzing factors affecting the overall survival (OS) rates of patients who received hematopoietic stem cell transplantation (HSCT). Log-Rank test was used for comparison of survival curves. Results: Among 27 JMML cases, there were 11 males and 16 females. The age of disease onset was 28 (11,52) months. There are 20 cases of normal karyotype, 4 cases of monosomy 7, 1 case of trisomy 8,1 case of 11q23 rearrangement and 1 case of complex karyotype. A total of 39 somatic mutations were detected.Those involved in RAS signal pathway were the highest (64%(25/39)), among which PTPN11 mutation was the most frequent (44% (11/25)). A total of 17 cases (63%) received HSCT, 8 cases (30%) did not receive HSCT, and 2 cases (7%) lost follow-up. For children receiving transplantation, the follow-up time after transplantation was 47 (11,57) months. The 1-year OS rate of high-risk transplantation group (17 cases) and high-risk non transplantation group (6 cases) was (88±8)% and (50±20)% respectively, with a statistically significant difference (χ2=5.01, P=0.025). The 5-year OS rate of the high-risk transplantation group was (75±11)%. The survival time of those who relapsed or progressed to acute myeloid leukemia after transplantation was significantly shorter than that of those who did not relapse (χ2=6.80, P=0.009). The OS rate of patients with or without PTPN11 mutation was (81±12) % and (67±19)% respectively (χ2=0.85, P=0.356). Conclusions: The main pathogenesis involved in JMML is gene mutation related to RAS signaling pathway, and the most common driver gene of mutation is PTPN11. Allogeneic HSCT can significantly improve the survival rate of high-risk JMML patients. The recurrence or progression after transplantation was related to poor prognosis.


Subject(s)
Male , Female , Child , Humans , Child, Preschool , Leukemia, Myelomonocytic, Juvenile/therapy , Retrospective Studies , Survival Analysis , Mutation , Hematopoietic Stem Cell Transplantation
3.
Chinese Journal of Preventive Medicine ; (12): 166-171, 2023.
Article in Chinese | WPRIM | ID: wpr-969862

ABSTRACT

Gestational diabetes mellitus(GDM)is one of the common complications during pregnancy. It is associated with many adverse pregnancy outcomes, threatening maternal and child health seriously. The exact pathogenesis of GDM remains unclear. Long term exposure to persistent organic pollutants (POPs) is considered to be one of the risk factors for GDM. More and more studies are concerned about the relationship between them. Based on the literature published at home and abroad, this article summarizes the correlation and possibly related mechanism of POPs and GDM, and explores the correlation between pops and GDM, so as to provide a new idea for the prevention of gestational diabetes.


Subject(s)
Pregnancy , Female , Child , Humans , Diabetes, Gestational , Persistent Organic Pollutants , Pregnancy Outcome , Environmental Pollutants , Risk Factors
4.
Chinese Journal of Traumatology ; (6): 139-146, 2023.
Article in English | WPRIM | ID: wpr-981919

ABSTRACT

PURPOSE@#High explosives are used to produce blast waves to study their biological effects. The lungs are considered as the critical target organ in blast-effect studies. The degree of lung hemorrhaging is related to both the explosive power and the increased lung weight. We studied the characteristics of the biological effects from an air explosion of a thermobaric bomb in a high-altitude environment and the lethality and lung injury severity of goats in different orientations and distances.@*METHODS@#Goats were placed at 2.5, 3, 4, and 5 m from the explosion center and exposed them to an air blast at an altitude of 4700-meter. A group of them standing oriented to the right side and the other group seated facing the explosion center vertically. The lung injuries were quantified according to the percentage of surface area contused, and using the pathologic severity scale of lung blast injury (PSSLBI) to score the 4 injury categories (slight, moderate, serious and severe) as 1, 2, 3, and 4, respectively. The lung coefficient (lung weight [g]/body weight [kg]) was the indicator of pulmonary edema and was related to lung injury severity. Blast overpressure data were collected using blast test devices placed at matching locations to represent loadings to goats. All statistical analyses were performed using SPSS, version 26.0, statistical software (SPSS, Inc., Chicago, IL, USA).@*RESULTS@#In total, 127 goats were involved in this study. Right-side-standing goats had a significantly higher mortality rate than those seated vertical-facing (p < 0.05). At the 2.5 m distance, the goat mortality was nearly 100%, whereas at 5 m, all the goats survived. Lung injuries of the right-side-standing goats were 1 - 2 grades more serious than those of seated goats at the same distances, the scores of PSSLBI were significantly higher than the seated vertical-facing goats (p < 0.05). The lung coefficient of the right-side-standing goats were significantly higher than those of seated vertical-facing (p < 0.05). Mortality, PSSLBI, and the lung coefficient results indicated that the right-side-standing goats experienced severer injuries than the seated vertical-facing goats, and the injuries were lessened as the distance increased. The blast overpressure was consistent with these results.@*CONCLUSION@#The main killing factors of the thermobaric bomb in the high-altitude environment were blast overpressure, blast wind propulsions and burn. The orientation and distances of the goats significantly affected the blast injury severity. These results may provide a research basis for diagnosing, treating and protecting against injuries from thermobaric explosions.


Subject(s)
Animals , Lung Injury/etiology , Blast Injuries , Goats , Explosions , Lung/pathology
5.
Chinese Journal of Preventive Medicine ; (12): 453-458, 2022.
Article in Chinese | WPRIM | ID: wpr-935307

ABSTRACT

Objective: To evaluate the relationship between red blood cell folate (RBC folate) and the prognosis of low-grade cervical intraepithelial neoplasia (CIN 1). Methods: In the married women cohort established in 2014, 564 women with CIN 1 diagnosed by pathology were recruited. The demographic characteristics and factors of cervical intraepithelial neoplasia were collected. Meanwhile, the infection status of human papillomavirus (HPV) was detected by molecular diversion hybridization, and the level of RBC folate was measured by chemical photoimmunoassay. After 24 months of follow-up, pathological examination was performed again to observe the prognosis of participants. The women with reversal were taken as the control group,and those with continuous and progressive CIN 1 were taken as the case group respectively. The relationship between RBC folate and CIN 1 outcome was evaluated by logistic regression model. Results: 453 women completed the follow-up, aged (49.72±6.84) years old. CIN 1 was reversed in 342 women, continued in 58 cases and progressed in 53 cases. The RBC folate level M (Q1,Q3) were 399.01 (307.10, 538.97) ng/ml, 316.98 (184.74, 428.49) ng/ml and 247.14 (170.54, 348.97) ng/ml, respectively. With the decrease of RBC folate, the risk of continuous and progressive CIN 1 increased (all P<0.001), while the risk of reversal CIN 1 decreased gradually (P<0.001). Combined with high-risk human papillomavirus (HR-HPV) infection status, low level of RBC folate could increase the risk of CIN 1 progression regardless of HR-HPV infection (HR-HPV infection: OR=21.34, 95%CI: 3.98-114.54; HR-HPV uninfection: OR=11.15, 95%CI: 2.34-53.13). Conclusion: Low level of RBC folate could increase the risk of CIN 1 persistence and progression regardless of HR-HPV infection.


Subject(s)
Adult , Female , Humans , Male , Middle Aged , Alphapapillomavirus , Case-Control Studies , Uterine Cervical Dysplasia , Erythrocytes , Folic Acid , Papillomaviridae , Papillomavirus Infections , Uterine Cervical Neoplasms
6.
Chinese Journal of Experimental Ophthalmology ; (12): 499-506, 2022.
Article in Chinese | WPRIM | ID: wpr-931102

ABSTRACT

Objective:To explore the effect of knockdown of the homeobox gene paired-box 6 ( Pax6) on the biological behavior and epithelial-mesenchymal transition (EMT) of human lens epithelial cells (LECs). Methods:The SRA01/04 human LECs were divided into small interfering RNA-Pax6 (siRNA-Pax6) group transfected with siRNA-Pax6 and siRNA negative control (siRNA-NC) group transfected with disordered siRNA.Cell survival rate was detected by cell counting kit-8 method at 24, 48 and 72 hours after transfection.Cell cycle distribution and apoptosis were analyzed by flow cytometry at 48 hours after transfection.Migratory capability of cells was examined by cell scratch test at 24 hours after transfection.The mRNA relative expression levels of Pax6, α-crystallin A (CRYAA), α-crystallin B (CRYAB), Sox2, α-smooth muscle actin (α-SMA) and E-cadherin were detected by quantitative real-time PCR at 48 hours after transfection.The relative expression of Pax6 protein was detected by Western blot at 48 hours after transfection.Results:There was a significant difference in cell survival rates at different time points between the two groups ( Fgroup=4.776, P<0.05; Ftime=13.535, P<0.05). The cell survival rate of siRNA-Pax6 group was obviously lower than that of siRNA-NC group at 48 and 72 hours after transfection, and the differences were statistically significant (both at P<0.05). Compared with siRNA-NC group, the proportion of cells in G 0/G 1 phase was significantly increased and the proportion of cells in S phase was significantly reduced in siRNA-Pax6 group ( t=9.971, -5.063; both at P<0.05). The cell migration rate of siRNA-Pax6 group was (19.73±6.07)%, which was lower than (70.56±2.97)% of siRNA-NC group, showing a statistically significant difference ( t=-7.245, P<0.05). The relative expressions of Sox2 mRNA and α-SMA mRNA were lower, and the relative expression of E-cadherin mRNA was higher in siRNA-Pax6 group than siRNA-NC group, with statistically significant differences between them ( t=-23.254, -5.294, 6.062; all at P<0.01). The relative expression of CRYAA mRNA and CRYAB mRNA was significantly higher in siRNA-Pax6 group than siRNA-NC group, and the differences were statistically significant ( t=5.521, 8.270; both at P<0.01). The relative expressions of Pax6 mRNA and protein in siRNA-Pax6 group were 0.27±0.01 and 0.24±0.05, respectively, which were both lower than 1.00±0.05 and 1.14±0.10 in siRNA-NC group, showing statistically significant differences ( t=-14.456, -4.458; both at P<0.001). Conclusions:Silence of Pax6 can suppress the proliferation and EMT of human LECs and enhance the expression of crystallin.

7.
Chinese Acupuncture & Moxibustion ; (12): 541-548, 2022.
Article in Chinese | WPRIM | ID: wpr-927420

ABSTRACT

OBJECTIVE@#To observe the effect of fire needling on psoriasis-like lesion and the signal transducer and activator of transcription 3 (STAT3) pathway in mice and compare the therapeutic effect between different interventions of fire needling therapy (surrounding technique of fire needling, fire needling at "Dazhui" [GV 14] and "Zusanli" [ST 36]).@*METHODS@#Thirty male BALB/c mice were randomized into a blank group, a model group, a dexamthasone group, a surrounding technique group and an acupoint group, 6 mice in each one. Except the blank group, the mice in the rest groups were established as psoriasis-like lesion model by topical application with imiquimod cream, once daily, consecutively for 8 days. From day 4 to day 8, in the dexamthasone group, gastric infusion with 0.2 mL dexamthasone was administered, once daily. On day 4, 6 and 8, in the surrounding technique group, fire needling was exerted around the skin lesion; and fire needling was applied to "Dazhui" (GV 14) and "Zusanli" (ST 36) in the acupoint group, once a day. The changes in skin lesion on the dorsal parts of mice were observed in each group to score the psoriasis area and severity index (PASI). Using HE staining, the dermal morphological changes and epidermal thickness were observed in the mice of each group. The positive expression of proliferating cell-associated antigen Ki-67 was determined by immunofluorescence. Immunohistochemistry method was used to determine the expressions of , and T cells of skin tissue in each group. Using real-time PCR, the expressions of interleukin (IL)-17, IL-22, tumor necrosis factor α(TNF-α) mRNA were determined. Western blot method was adopted to determine the protein expressions of STAT3 and p-STAT3 in skin tissue in each group.@*RESULTS@#Compared with the blank group, the scores of each item and the total scores of PASI, as well as the epidermal thickness were all increased in the mice of the model group (P<0.01). Except for the erythema scores of the dexamethasone group and the surrounding technique group, the scores of each item and the total scores of PASI, as well as the epidermal thickness were all decreased in each intervention group as compared with the model group (P<0.01). The infiltration scores and the total scores in the dexamethasone group and the acupoint group were lower than those in the surrounding technique group respectively (P<0.01, P<0.05). In comparison with the blank group, Ki-67 positive cell numbers and the numbers of , and T cells in skin tissue were increased in the mice of the model group (P<0.01). Ki-67 positive cell numbers and the numbers of , and T cells were reduced in each intervention group as compared with the model group (P<0.01), and the numbers of and T cells in the acupoint group were less than the surrounding technique group (P<0.01). Compared with the blank group, the mRNA expressions of IL-17, IL-22 and TNF-α and the ratio of p-STAT3 to STAT3 were all increased in the model group (P<0.01). The mRNA expressions of IL-17, IL-22 and TNF-α and the ratio of p-STAT3 to STAT3 were all decreased in each intervention group as compared with the model group (P<0.01, P<0.05). The mRNA expressions of IL-17, IL-22 and TNF-α in the acupoint group, as well as mRNA expression of IL-17 in the surrounding technique group were all lower than the dexamethasone group (P<0.01), while, the mRNA expression of IL-22 in the acupoint group was lower than the surrounding technique group (P<0.01).@*CONCLUSION@#Fire needling therapy improves skin lesion severity in imiquimod induced psoriasis-like lesion of the mice, which is probably related to the inhibition of STAT3 pathway activation and the decrease of Th17 inflammatory factors expression. The systemic regulation of fire needling at "Dazhui" (GV 14) and "Zusanli" (ST 36) is superior to the local treatment.


Subject(s)
Animals , Male , Mice , Dexamethasone/therapeutic use , Imiquimod/metabolism , Interleukin-17/metabolism , Ki-67 Antigen/metabolism , Mice, Inbred BALB C , Psoriasis/drug therapy , RNA, Messenger/metabolism , STAT3 Transcription Factor/pharmacology , Skin/pathology , Tumor Necrosis Factor-alpha/metabolism
8.
Chinese Acupuncture & Moxibustion ; (12): 66-72, 2022.
Article in Chinese | WPRIM | ID: wpr-927336

ABSTRACT

OBJECTIVE@#To observe the effect of moxibustion on skin lesions and immune inflammatory response in psoriasis mice, and to explore the possible mechanism of moxibustion for psoriasis.@*METHODS@#A total of 32 male BALB/c mice were randomly divided into a normal group, a model group, a moxibustion group and a medication group, 8 mice in each group. Psoriasis model was induced by applying 5% imiquimod cream on the back for 7 days in the model group, the moxibustion group and the medication group. At the same time of model establishment, the moxibustion group was treated with suspension moxibustion on skin lesions on the back, 20 min each time, once a day; the medication group was treated with 1 mg/kg methotrexate tablet solution by gavage, once a day. Both groups were intervened for 7 days. The daily changes of skin lesions were observed, and the psoriasis area and severity index (PASI) score was evaluated; the histopathological changes of skin lesions were observed by HE staining; the positive expression of proliferating cell nuclear antigen (PCNA) and T lymphocyte surface marker CD3 were detected by immunohistochemistry; the expression level of serum interleukin (IL) -17A was detected by ELISA, and the relative expressions of tumor necrosis factor-α (TNF-α), IL-1β and IL-6 mRNA in skin lesions were detected by real-time PCR.@*RESULTS@#The increased and hypertrophy scale, dry skin, red and swollen epidermis and obvious infiltration were observed in the model group, and each score and total score of PASI were higher than those in the normal group (P<0.01). The scale score, infiltration score, and total score of PASI in the moxibustion group were lower than those in the model group (P<0.01); the infiltration score and total score of PASI in the medication group were lower than those in the model group (P<0.01, P<0.05). The inflammatory cell infiltration in the model group was obvious, and the thickness of epidermal layer was increased compared with that in the normal group (P<0.01); the inflammatory cell infiltration and Munro micro abscess were decreased in the moxibustion group and the medication group, and the thickness of epidermal layer was decreased compared with that in the model group (P<0.01). Compared with the normal group, the positive cell number of PCNA and T was increased (P<0.01), and the body mass was decreased, and the spleen index was increased (P<0.01), and the expression of serum IL-17A and the relative expression of TNF-α, IL-1β and IL-6 mRNA in the skin lesions was increased in the model group (P<0.01). Compared with the model group, the positive cell number of PCNA and T was reduced (P<0.01), and the spleen index and the relative expression of TNF-α, IL-1β and IL-6 mRNA were reduced (P<0.01) in the moxibustion group and the medication group; the body mass of mice in the moxibustion group was higher than that in the model group (P<0.01); the content of serum IL-17A in the medication group was lower than that in the model group (P<0.01); the relative expression of TNF-α, IL-1β mRNA in the moxibustion group was higher than that in the medication group (P<0.01).@*CONCLUSION@#Moxibustion could effectively improve the scale and infiltration of skin lesions in psoriasis mice. Its mechanism may be related to inhibiting inflammatory response and regulating immunity.


Subject(s)
Animals , Male , Mice , Imiquimod , Moxibustion , Psoriasis/therapy , Skin , Spleen , Tumor Necrosis Factor-alpha/genetics
9.
Chinese Acupuncture & Moxibustion ; (12): 762-766, 2021.
Article in Chinese | WPRIM | ID: wpr-887479

ABSTRACT

OBJECTIVE@#To observe the short-term and long-term effects of moxibustion on plaque psoriasis of blood stasis, and to compare the curative effect between moxibustion and calcipotriol ointment.@*METHODS@#A total of 80 patients with plaque psoriasis of blood stasis were randomly divided into an observation group (40 cases, 2 cases dropped off) and a control group (40 cases, 4 cases dropped off). Both groups were given routine medical vaseline topical emollient basic treatment. In the observation group, moxibustion was applied to @*RESULTS@#After treatment, the PASI scores in the both groups were lower than before treatment (@*CONCLUSION@#Both moxibustion and calcipotriol ointment have good short-term effects on plaque psoriasis of blood stasis. Moxibustion has more advantages in reducing the recurrence rate of psoriasis, improving the main clinical symptoms of TCM and quality of life.


Subject(s)
Humans , Acupuncture Points , Moxibustion , Psoriasis/drug therapy , Quality of Life , Treatment Outcome
10.
Journal of Integrative Medicine ; (12): 499-504, 2020.
Article in English | WPRIM | ID: wpr-880987

ABSTRACT

OBJECTIVE@#Pulmonary nodules (PNs) are one of the imaging manifestations of early lung cancer screening, which should receive more attention. Traditional Chinese medicine believes that voice changes occur in patients with pulmonary diseases. The purpose of this study is to explore the differences in phonetic characteristics between patients with PNs and able-bodied persons.@*METHODS@#This study explores the phonetic characteristics of patients with PNs in order to provide a simpler and cheaper method for PN screening. It is a case-control study to explore the differences in phonetic characteristics between individuals with and without PNs. This study performed non-parametric statistics on acoustic parameters of vocalizations, collected from January 2017 to March 2018 in Shanghai, China, from these two groups; it explores the differences in third and fourth acoustic parameters between patients with PNs and a normal control group. At the same time, computed tomography (CT) scans, course of disease, combined disease and other risk factors of the patients were collected in the form of questionnaire. According to the grouping of risk factors, the phonetic characteristics of the patients with PNs were analyzed.@*RESULTS@#This study was comprised of 200 patients with PNs, as confirmed by CT, and 86 healthy people that served as a control group. Among patients with PNs, 43% had ground glass opacity, 32% had nodules with a diameter ≥ 8 mm, 19% had a history of smoking and 31% had hyperlipidemia. Compared with the normal group, there were statistically significant differences in pitch, intensity and shimmer in patients with PNs. Among patients with PNs, patients with diameters ≥ 8 mm had a significantly higher third formant. There was a significant difference in intensity, fourth formant and harmonics-to-noise ratio (HNR) between smoking and non-smoking patients. Compared with non-hyperlipidemia patients, the pitch, jitter and shimmer of patients with PNs and hyperlipidemia were higher and the HNR was lower; these differences were statistically significant.@*CONCLUSION@#This measurable changes in vocalizations can be in patients with PNs. Patients with PNs had lower and weaker voices. The size of PNs had an effect on the phonetic formant. Smoking may contribute to damage to the voice and formant changes. Voice damage is more pronounced in individuals who have PNs accompanied by hyperlipidemia.

11.
World Journal of Emergency Medicine ; (4): 33-36, 2020.
Article in English | WPRIM | ID: wpr-782361

ABSTRACT

BACKGROUND@#MAVERIC (Mitral Valve Repair Clinical Trial) validates the safety and efficacy of the ARTO system. We here report the first two successful cases of utilizing the ARTO system in patients with symptomatic heart failure (HF) with functional mitral regurgitation (FMR) in Asia.@*METHODS@#Two patients, aged 70 and 63, had severe HF with FMR. Transesophageal echocardiography confirmed that the left ventricular ejection fractions were less than 50% with severe mitral regurgitation (MR) in both patients. Optimizing drug treatment could not mitigate their symptoms. Therefore, we used the ARTO system to repair the mitral valve for these patients on March 5 and 6, 2019, respectively.@*RESULTS@#Mitral valve repairs using the ARTO system were successfully performed under general anaesthesia for these two patients. MR was decreased immediately after the procedures in both patients. The 30-day and 3-month transthoracic echocardiography (TTE) revealed a moderate to severe MR in both patients, and the New York Heart Association (NYHA) scales were also partially improved.@*CONCLUSION@#The first two cases in Asia indicate that the ARTO system is feasible for patients with heart failure with FMR, and the patient selection appears to be crucial.

12.
Journal of Peking University(Health Sciences) ; (6): 851-855, 2020.
Article in Chinese | WPRIM | ID: wpr-942085

ABSTRACT

OBJECTIVE@#Mitochondrial deoxyribonucleic acid (mtDNA) 8344 A>G (m.8344A>G) mutation is the common mutation associated with mitochondrial myoclonus epilepsy with ragged-red fibers (MERRF) syndrome. Herein we report a rare case with mitochondrial encephalopathy, lactic acidosis and stroke-like episodes/MERRF/Leigh (MELAS/MERRF/Leigh) overlap syndrome caused by m.8344A>G mutation.@*METHODS@#The clinical and imaging data of the patient were collected and an open muscle biopsy was carried out. We further employed molecular genetic analyses to detect mtDNA mutation in the proband and his mother. And then a clinical and neuroimaging follow-up was performed.@*RESULTS@#This patient was a 25-year-old male, who developed exercise intolerance since the age of 6. At age 10, he suffered from acute episodes of hemianopia, and cranial magnetic resonance imaging (MRI) showed occipital stroke-like lesions and cranial magnetic resonance spectroscopy (MRS) revealed a lactate peak corresponding to the lesion. After that the patient presented slowly progressive psychomotor decline. He had myoclonic seizures and cerebellar ataxia since the age of 12. At age 21, he was admitted to our hospital because of confusion and cranial MRI revealed symmetrical lesions in bilateral posterior putamen, thalami and midbrain. Then repeated MRI showed progression of original lesions and new frontal multiple stroke-like lesions. Symptomatic and rehabilitation treatment relieved his condition. Follow-up cranial MRI at age 24 showed the lesions in basal ganglia and thalami diminished, and the midbrain lesions even completely vanished. Muscle pathology indicated the presence of numerous scattered ragged-red fibers (RRF), suggestive of a mitochondrial disorder. Polymerase chain reaction-restricted fragment length polymorphism (PCR-RFLP) detected the m.8344A>G mutation of the MT-TK gene encoding mitochondrial transfer RNA for lysine in the patient's blood. Next generation sequencing (NGS) of the whole mitochondrial genome identified that the proportion of m.8344A>G was 90%, and no other mtDNA mutation was detected. Sanger sequencing further identified this mutation both in the proband and his mother's blood, although the mutation load was much lower in his mother's blood with approximately 10% heteroplasmy.@*CONCLUSION@#The present study is the first to describe a patient with m.8344A>G mutation in association with the MELAS/MERRF/Leigh overlap syndrome, which expands the phenotypic spectrum of the m.8344A>G mutation.


Subject(s)
Adult , Child , Humans , Male , Young Adult , Acidosis, Lactic , DNA, Mitochondrial/genetics , Mitochondrial Encephalomyopathies , Mutation , Stroke
13.
Chinese Medical Journal ; (24): 269-274, 2019.
Article in English | WPRIM | ID: wpr-774854

ABSTRACT

BACKGROUND@#Studies on the relationship between antiepileptic drug (AED) administration and clinical outcomes in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) remain scarce. Levetiracetam (LEV) is an AED that is neuroprotective in various neurologic disorders. This study aimed to determine the impact of LEV on the outcome of MELAS.@*METHODS@#A retrospective, single-center study was performed based on a large cohort of patients with MELAS with a history of seizures (n = 102). Decisions on antiepileptic therapies were made empirically. Patients were followed up for 1 to 8 years (median, 4 years) and divided into 2 groups based on whether LEV was administered (LEV or non-LEV). The modified Rankin scale (mRS) scores and mortality risks were analyzed in all patients.@*RESULTS@#LEV, carbamazepine, benzodiazepines, topiramate, oxcarbazepine, valproate, and lamotrigine were administered in 48, 37, 18, 13, 11, 9, and 9 patients, singly or in combination, respectively. The mean mRS score of the LEV group (n = 48) was lower than that of the non-LEV group (n = 54; mean ± standard deviation, 2.79 ± 1.47 vs. 3.83 ± 1.93, P = 0.006) up to the end of the study. Nevertheless, there was no difference in the proportion of subjects without disability (mRS ranging 0-1) between the groups (P = 0.37). The multivariate regressions revealed that LEV treatment was associated with lower mRS scores (odds ratio 0.32, 95% confidence interval [CI] 0.15-0.68, P = 0.003) and mortality rates (hazard ratio 0.24, 95% CI 0.08-0.74, P = 0.013). There was a significant difference in the Kaplan-Meier survival curves between the groups (χ = 4.29, P = 0.04).@*CONCLUSIONS@#The LEV administration is associated with lower mortality in patients with MELAS in this retrospective study. Further laboratory research and prospective cohort studies are needed to confirm whether LEV has neuroprotective effects on patients with mitochondrial diseases.


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Male , Acidosis, Lactic , Drug Therapy , Mortality , Anticonvulsants , Therapeutic Uses , Carbamazepine , Therapeutic Uses , Lamotrigine , Therapeutic Uses , Levetiracetam , Therapeutic Uses , Mitochondrial Encephalomyopathies , Drug Therapy , Mortality , Oxcarbazepine , Therapeutic Uses , Prospective Studies , Retrospective Studies , Stroke , Drug Therapy , Mortality , Topiramate , Therapeutic Uses , Valproic Acid , Therapeutic Uses
14.
Chinese Medical Journal ; (24): 1202-1207, 2019.
Article in English | WPRIM | ID: wpr-771236

ABSTRACT

BACKGROUND@#Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO. The aim of this work was to measure and evaluate changes in the macular retinal thickness and optic nerve head in patients with CPEO using spectral-domain optical coherence tomography and to compare the findings with those of healthy individuals.@*METHODS@#Totally, 18 CPEO patients were enrolled in this study. Healthy volunteers matched for gender, age, and diopter settings were included as a control group. The retinal thickness of macular central fovea, inner and outer retinal layer thickness of perifoveal macular, optic nerve head parameters, and peripapillay retinal nerve fiber layer thickness (pRNFLT) for all included cases were measured using spectral-domain optical coherence tomography. A paired t test was used to compare the differences in the studied parameters between the two groups. The correlations between macular retinal thickness, pRNFLT, disease duration, and age of onset were also analyzed.@*RESULTS@#Among the macular parameters, retinal thickness of macular central fovea (t = -2.135, P < 0.05) and outer retinal layer thickness (t = -1.994, P < 0.05) of patients in the CPEO group were statistically significant lower than those of patients in the normal control group. For the optic nerve head parameters, the patients in the CPEO group showed a larger rim volume (t = -2.499, P < 0.05) and nerve head volume (t = -2.103, P < 0.05). The overall pRNFLT of patients in the CPEO group was statistically significant lower than that of patients in the control group (t = -4.125, P < 0.05). The comparison of pRNFLT in eight sectors showed that the pRNFLT of patients in the CPEO group was statistically significant lower than that of the control group mainly in the inferior and temporal sectors. The degree of pRNFL defect negatively correlated with the disease duration (r = -0.583, P < 0.05).@*CONCLUSIONS@#The retinal thickness of patients with CPEO was significantly thinner, which was mostly the outer retina. The patients' optic discs had a low volume and the loss of the retinal nerve fiber layer was obvious. With the extension of the disease duration, the retinal nerve fiber layer defect was even more significant.

15.
Chinese Medical Journal ; (24): 1202-1207, 2019.
Article in English | WPRIM | ID: wpr-796450

ABSTRACT

Background:@#Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial encephalomyopathy caused by multiple mtDNA abnormalities. There is little information about the changes of ocular fundus with CPEO. The aim of this work was to measure and evaluate changes in the macular retinal thickness and optic nerve head in patients with CPEO using spectral-domain optical coherence tomography and to compare the findings with those of healthy individuals.@*Methods:@#Totally, 18 CPEO patients were enrolled in this study. Healthy volunteers matched for gender, age, and diopter settings were included as a control group. The retinal thickness of macular central fovea, inner and outer retinal layer thickness of perifoveal macular, optic nerve head parameters, and peripapillay retinal nerve fiber layer thickness (pRNFLT) for all included cases were measured using spectral-domain optical coherence tomography. A paired t test was used to compare the differences in the studied parameters between the two groups. The correlations between macular retinal thickness, pRNFLT, disease duration, and age of onset were also analyzed.@*Results:@#Among the macular parameters, retinal thickness of macular central fovea (t = -2.135, P < 0.05) and outer retinal layer thickness (t = -1.994, P < 0.05) of patients in the CPEO group were statistically significant lower than those of patients in the normal control group. For the optic nerve head parameters, the patients in the CPEO group showed a larger rim volume (t = -2.499, P < 0.05) and nerve head volume (t = -2.103, P < 0.05). The overall pRNFLT of patients in the CPEO group was statistically significant lower than that of patients in the control group (t = -4.125, P < 0.05). The comparison of pRNFLT in eight sectors showed that the pRNFLT of patients in the CPEO group was statistically significant lower than that of the control group mainly in the inferior and temporal sectors. The degree of pRNFL defect negatively correlated with the disease duration (r = -0.583, P < 0.05).@*Conclusions:@#The retinal thickness of patients with CPEO was significantly thinner, which was mostly the outer retina. The patients’ optic discs had a low volume and the loss of the retinal nerve fiber layer was obvious. With the extension of the disease duration, the retinal nerve fiber layer defect was even more significant.

16.
Chinese Pharmaceutical Journal ; (24): 941-946, 2019.
Article in Chinese | WPRIM | ID: wpr-857981

ABSTRACT

Two dimensional liquid chromatography (2D-LC) has become an important way to achieve the separation of complex samples due to higher peak capacity, higher selectivity and better separation ability compared with one-dimensional liquid chromatography(1D-LC). 2D-LC has been developing rapidly in many fields, such as medicine, food, metabolites in vivo or in vitro and so on. This review illustrates various separation modes of 2D-LC and its applications and developments, with emphases on the research of quality control of drugs.

17.
World Journal of Emergency Medicine ; (4): 133-137, 2019.
Article in English | WPRIM | ID: wpr-787539

ABSTRACT

BACKGROUND@#Transapical off-pump NeoChord procedure is a novel minimally invasive surgical repair of degenerative mitral regurgitation (MR). Here, we report the first four cases of NeoChord procedure in patients with mitral valve prolapse in Chinese mainland.@*METHODS@#Four patients, aged 86, 84, 80 and 60 years, with severe MR due to posterior middle scallop prolapse (P2), underwent transapical off-pump artificial chordae implantation on April 9 and 10, 2019. The procedure was performed by left mini-thoracotomy under general anaesthesia and guided by 2D and 3D dimensional transoesophageal echocardiography (TEE).@*RESULTS@#Mitral valve repair via NeoChord procedure was successfully performed with implantation of 3 artificial chordae in the first patient and 3, 2, and 3 artificial chordae in the following patients, respectively. Intraoperative TEE and pre-discharge transthoracic echocardiography (TTE) showed only mild to moderate MR of these four patients and no postoperative complications were noted. There were no changes of TTE finding between one-month follow-up and pre-discharge.@*CONCLUSION@#The successful NeoChord procedures in four Chinese indicate that the valve repair using the NeoChord system for Chinese population is feasible.

18.
Journal of Acupuncture and Tuina Science ; (6): 278-283, 2019.
Article in Chinese | WPRIM | ID: wpr-756728

ABSTRACT

Amblyopia greatly affects the physical and mental development of children. Acupuncture is effective for amblyopia, though its mechanism remains unclear. This article summarized the mechanism of acupuncture treatment of amblyopia from the perspectives of morphology of neurons in visual cortex, visual electrophysiology, and molecular biology, etc. It was found that acupuncture may treat amblyopia through repairing the morphological and ultrastructural damages of neurons in visual cortex, promoting the electrical activities in visual pathway and visual cortical neurons, and modulating the synthesis and expression levels of factors involved in visual system. Nevertheless, further studies are required to unveil the mechanism of acupuncture treatment of amblyopia.

19.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 446-450, 2019.
Article in Chinese | WPRIM | ID: wpr-753152

ABSTRACT

To compare short‐and mid‐term therapeutic effect on aged patients with multi‐vessel coronary disease between minimally invasive coronary artery bypass grafting (MIDCAB) and coronary artery bypass grafting (CABG).Methods : A total of 72 patients with multi‐vessel disease , who were suitable for MIDCAB from 2016 to 2018 , were regarded as MIDCAB group .Another 96 patients with multi‐vessel disease , who were not suitable for MIDCAB , were enrolled as CABG group (received selective on‐pump CABG).Clinical data and incidence of major adverse cardio‐ and cerebrovascular events (MACCE ) within two‐year follow‐up were compared between two groups.Results : Men percentage of MIDCAB group was significantly higher than that of CABG group (83. 3% vs. 67. 7%, P=0.022) ; compared with CABG group , there were significant reductions in percentages of left anterior descending proximal lesions (61.5% vs.34.7%) and chronic total occlusion disease (57.3% vs.34. 7%) in MID‐CAB group ( P<0. 01 both) , there were no significant difference in other indexes between two groups , P> 0. 05 all.All subjects were followed up for two years , follow‐up rate was 90. 5% .There were no significant difference in incidence rates of all‐cause death and MACCE between two groups , P>0.05 all.Conclusion : There is no signifi‐cant difference in incidence rate of short‐and mid‐term events between CABG and MIDCAB in patients with multi‐vessel coronary disease .MIDCAB is recommended for proper patients in clinic .

20.
Chinese Journal of cardiovascular Rehabilitation Medicine ; (6): 318-322, 2019.
Article in Chinese | WPRIM | ID: wpr-753120

ABSTRACT

Objective :To compare short-term and midterm therapeutic effect between sirolimus-eluting stent implan-tation (SES-PCI) and coronary artery bypass graft (CABG) in aged patients with coronary heart disease (CHD) and multi-vessel coronary disease (MVD).Methods : Aged MVD patients undergoing selective revascularization were en-rolled and divided into CABG group (n=301) and SES-PCI group (n=289).Major adverse cardio-and cerebrovas-cular events (MACCE) were followed up for 30d ,one ,two and five years .Logistic multi-factor regression was used to analyze independent risk factors for different therapeutic methods .Results : Compared with CABG group after 30d follow-up ,there was significant reduction in all-cause mortality (6-3% vs.2-8%) and significant rise in a sec-ond revascularization rate (RVR ,1-3% vs.8-3%) in SES-PCI group , P<0-05 or <0-01 ;compared with CABG group during one ,two and five-year follow up ,there were significant reductions in all-cause mortality [one year :(11-6% vs.4-8%) ,five years :(23-3% vs.12-1%)] and incidence rate of cerebrovascular accidents [one year :(8-6% vs .3-5%) ,five years :(18-3% vs.6-9%)] ,and significant rise in incidence rate of non-fatal myocardial infarction [one year :(6-6% vs.11-8%) ,five years :(12-0% vs.24-9%)] and a second RVR [one year :(3-0%vs.16-3%) ,five years :(9-3% vs.24-6%)] in SES-PCI group , P<0-05 or <0-01- Logistic multi-factor regres-sion analysis indicated that DM and EH were independent risk factors for SES-PCI (OR= 45-772 ,13-218 , P=0-001 both) ,while peripheral vascular disease was independent protective factor for SES-PCI (OR= 0-007 , P=0-001).Conclusion : Compared with CABG ,there are significant reductions in short-term and midterm all-cause mortality ,and significant rise in a second RVR in MVD patients undergoing PCI .

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