摘要
AIM To improve the quality standard for Guanxin Shengmai Pills.METHODS TLC was adopted in the qualitative identification of Ginseng Radix et Rhizoma and Notoginseng Radix et Rhizoma,the analysis was performed on a silica G thin layer plate,along with the low layer solution of chloroform-methanol-water(13 : 7 : 2)stood at below 10℃ as a mobile phase,and 10%sulfuric acid ethanol solution as a derivatization reagent.HPLC was applied to determining the contents of ginsenoside Rg1,ginsenoside Re,ginsenoside Rb1 and ginsenoside Rd,the analysis was performed on a 20℃ thermostatic Thermo Accucore-C18 column(4.6 mm×150 mm,2.6 μm),with the mobile phase comprising of acetonitrile-water flowing at 0.8 mL/min in a gradient elution manner,and the detection wavelength was set at 203 nm.RESULTS The clear TLC bands present without negative interference.Four constituents showed good linear relationships within their own ranges(R2≥0.999 9),whose average recoveries were 91.21%-106.86%with the RSDs of 0.68%-1.43%.CONCLUSION This specific and reproducible method can provide a reference for the quality control of Guanxin Shengmai Pills.
摘要
PiT2 is an inorganic phosphate (Pi) transporter whose mutations are linked to primary familial brain calcification (PFBC). PiT2 mainly consists of two ProDom (PD) domains and a large intracellular loop region (loop7). The PD domains are crucial for the Pi transport, but the role of PiT2-loop7 remains unclear. In PFBC patients, mutations in PiT2-loop7 are mainly nonsense or frameshift mutations that probably cause PFBC due to C-PD1131 deletion. To date, six missense mutations have been identified in PiT2-loop7; however, the mechanisms by which these mutations cause PFBC are poorly understood. Here, we found that the p.T390A and p.S434W mutations in PiT2-loop7 decreased the Pi transport activity and cell surface levels of PiT2. Furthermore, we showed that these two mutations attenuated its membrane localization by affecting adenosine monophosphate-activated protein kinase (AMPK)- or protein kinase B (AKT)-mediated PiT2 phosphorylation. In contrast, the p.S121C and p.S601W mutations in the PD domains did not affect PiT2 phosphorylation but rather impaired its substrate-binding abilities. These results suggested that missense mutations in PiT2-loop7 can cause Pi dyshomeostasis by affecting the phosphorylation-regulated cell-surface localization of PiT2. This study helps understand the pathogenesis of PFBC caused by PiT2-loop7 missense mutations and indicates that increasing the phosphorylation levels of PiT2-loop7 could be a promising strategy for developing PFBC therapies.
Subject(s)
Humans , Cell Membrane , Mutation, Missense , Phosphates/metabolism , Sodium-Phosphate Cotransporter Proteins, Type III/genetics摘要
Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain, accompanied by various symptoms, such as dystonia, ataxia, parkinsonism, dementia, depression, headaches, and epilepsy. Currently, the etiology of PFBC is largely unknown, and no specific prevention or treatment is available. During the past 10 years, six causative genes (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified in PFBC. In this review, considering mechanistic studies of these genes at the cellular level and in animals, we summarize the pathogenesis and potential preventive and therapeutic strategies for PFBC patients. Our systematic analysis suggests a classification for PFBC genetic etiology based on several characteristics, provides a summary of the known composition of brain calcification, and identifies some potential therapeutic targets for PFBC.
Subject(s)
Animals , Brain Diseases/therapy , Xenotropic and Polytropic Retrovirus Receptor , Brain/pathology摘要
Objective: To investigate the clinical characteristics and maternal and fetal prognosis of pregnant women with acute fatty liver of pregnancy (AFLP). Methods: The clinical data of 86 AFLP pregnant women admitted to the Third Affiliated Hospital of Guangzhou Medical University from September 2017 to August 2022 were collected, and their general data, clinical characteristics, laboratory tests and maternal and fetal outcomes were retrospectively analyzed. Results: (1) General information: the age of the 86 pregnant women with AFLP was (30.8±5.4) years, and the body mass index was (21.0±2.5) kg/m2. There were 50 primiparas (58.1%, 50/86) and 36 multiparas (41.9%, 36/86). There were 64 singleton pregnancies (74.4%, 64/86) and 22 twin pregnancies (25.6%, 22/86). (2) Clinical characteristics: the main complaints of AFLP pregnant women were gastrointestinal symptoms, including epigastric pain (68.6%, 59/86), nausea (47.7%, 41/86), anorexia (46.5%, 40/86), vomiting (39.5%, 34/86). The main non-gastrointestinal symptoms were jaundice of skin and/or scleral (54.7%, 47/86), edema (38.4%, 33/86), fatigue (19.8%, 17/86), bleeding tendency (16.3%, 14/86), polydipsia or polyuria (14.0%, 12/86), skin itching (8.1%, 7/86), and 17.4% (15/86) AFLP pregnant women had no obvious symptoms. (3) Laboratory tests: the incidence of liver and kidney dysfunction and abnormal coagulation function in AFLP pregnant women was high, and the levels of blood ammonia, lactate dehydrogenase and lactic acid were increased, and the levels of hemoglobin, platelet and albumin decreased. However, only 24 cases (27.9%, 24/86) of AFLP pregnant women showed fatty liver by imageology examination. (4) Pregnancy outcomes: ① AFLP pregnant women had a high incidence of pregnancy complications, mainly including renal insufficiency (95.3%, 82/86), preterm birth (46.5%, 40/86), hypertensive disorders in pregnancy (30.2%, 26/86), gestational diabetes mellitus (36.0%, 31/86), fetal distress (24.4%, 21/86), pulmonary infection (23.3%, 20/86), disseminated intravascular coagulation (16.3%, 14/86), multiple organ dysfunction syndrome (16.3%, 14/86), hepatic encephalopathy (9.3%, 8/86), and intrauterine fetal death (2.3%, 2/86). ② Treatment and outcome of AFLP pregnant women: the intensive care unit transfer rate of AFLP pregnant women was 66.3% (57/86). 82 cases were improved and discharged after treatment, 2 cases were transferred to other hospitals for follow-up treatment, and 2 cases (2.3%, 2/86) died. ③ Neonatal outcomes: except for 2 cases of intrauterine death, a total of 106 neonates were delivered, including 39 cases (36.8%, 39/106) of neonatal asphyxia, 63 cases (59.4%, 63/106) of neonatal intensive care unit admission, and 3 cases (2.8%, 3/106) of neonatal death. Conclusions: AFLP is a severe obstetric complication, which is harmful to mother and fetus. In the process of clinical diagnosis and treatment, attention should be paid to the clinical manifestations and laboratory tests of pregnant women, early diagnosis and active treatment, so as to improve maternal and fetal outcomes.
Subject(s)
Pregnancy , Infant, Newborn , Female , Humans , Adult , Retrospective Studies , Premature Birth/epidemiology , Pregnancy Complications/diagnosis , Fatty Liver/diagnosis , Fetal Death , Stillbirth摘要
Objective To research the monoclonal antibody KMP1 inhibited bladder cancer EJ cell lines growth and metastasis in vivo by bioluminescence imaging. Methods Immunohistochemistry was used to determine the KMP1 binding to EJ and EJ-GFP cell lines. The xenograft tumor cell growth and distribution were measured by vernier calipers and dynamic in vivo fluorescence imaging. Immunohistochemistry and H&E counterstaining researched the feature of the xenograft tumor. Results Cell growth curves of EJ and EJ-GFP cells were similar. EJ-GFP had a green fluorescence. In EJ-GFP nude mouse tumor model, the addition of KMP1 significantly inhibited tumor growth and extended the average life span of nude mice. Both EJ and EJ-GFP cells can bind to KMP1,and the weight of transplanted tumors in the KMP1 treatment group was significantly lower than that of the mIgG control group (P<0.001).Conclusion KMP1 has a promising antitumor effect in vivo. It might be valuable for development as a promising targeted agent for bladder cancer.
摘要
Objective@#To analyze the clinical outcomes of repeated superovulation induction in patients with adenomyosis or moderate to severe pelvic endometriosis after failure in previous IVF-ET cycles with the ultra-long protocol.@*METHODS@#We retrospectively analyzed the clinical data about 37 patients with adenomyosis or moderate to severe pelvic endometriosis in our center from 2009 to 2013, who underwent repeated IVF-ET after failure in the previous cycles with the ultra-long protocol, namely by injection of 2-6 ampoules of 3.75 mg gonadotropin-releasing hormone agonist (GnRH-a). All the patients met the following requirements: hCG-negative at 14 days after transfer, within 3-7 days after menstruation, and properly down-regulated serum follicle stimulating hormone (FSH) (<10 mIU/ml), luteinizing hormone (LH) (<10 mIU/ml), estradiol (E2) (<30 pg/ml), follicle diameter (<10 mm) and endometrial thickness, and received GnRH (Gonal-F, Serono) for ovulation induction. We compared the clinical and laboratory data and pregnancy outcomes between the first and repeated cycles before and after ovulation induction.@*RESULTS@#The repeated cycles, as compared with previous ones, showed significant increases in the antral follicle count (AFC) on the first day of stimulation (7.55 ± 1.86 vs 6.45 ± 2.5, P<0.05), number of follicles =≥14 mm in diameter on the hCG trigger day (7.81 ± 3.6 vs 5.56 ± 3.68, P<0.05), level of E2 ([2 362.15 ± 1 210.49] vs [1 749.22 ± 1 139.44] pg/ml, P<0.05), and numbers of oocytes retrieved (7.51 ± 3.23 vs 4.78 ± 3.41, P<0.05) and embryos transferred (2.00 ± 0.33 vs 1.50 ± 0.67, P<0.05), exhibited a remarkably reduction in the dose of GnRH ([1 791.65 ± 1 889.41] vs [3 439.56 ± 1 836.53] IU, P<0.05), and achieved a clinical pregnancy rate of 62.16%.@*CONCLUSIONS@#With proper reduction of the FSH, LH and E2 levels and follicle diameter, repeated superovulation induction for IVF-ET can improve the ovarian response and pregnancy outcomes of the patients with adenomyosis or moderate to severe pelvic endometriosis after failure in the previous IVF-ET cycles with the ultra-long protocol.
Subject(s)
Female , Humans , Pregnancy , Endometriosis , Blood , Estradiol , Blood , Fertilization in Vitro , Follicle Stimulating Hormone , Blood , Follicle Stimulating Hormone, Human , Blood , Gonadotropin-Releasing Hormone , Blood , Luteinizing Hormone , Blood , Oocytes , Ovarian Follicle , Ovary , Ovulation Induction , Methods , Pregnancy Outcome , Pregnancy Rate , Recombinant Proteins , Blood , Retrospective Studies , Superovulation摘要
Objective To apply 3.0 T MRI(3-dimensional time-of-flight and high-resolution MRI vessel wall imaging) technique for analyzing atherosclerotic middle cerebral stenosis, location of the plaque and remodeling of the middle cerebral artery. Methods 3.0 T MRI was used to examine 64 patients with middle cerebral atherosclerotic stenosis, determining the plaque location and thickness. The plaque area ratio was defined as plaque area/cross-sectional area of the vessel (VA); remodeling ratio was detined as VA/average of the proximal and distal normal artery; and the luminal area of the vessil (LA) ratio was delined as LA/average of the proximal and distal normal artery. Results The atherosclerotic plaque of middle cerebral artery (M1 segment) most frequently formed annular plaque and was located at the ventral and inferior wall, with the plaque thickness being 0.5-1.5 mm (72.5%). The middle cerebral atherosclerotic plaque remodeling modes were mainly positive (outward) remodeling. Conclusion 3.0 T MRI can help to demonstrate the distribution of the middle cerebral atherosclerotic plaque and the remodeling of the middle cerebral artery, which is worth further studying.
摘要
<p><b>OBJECTIVE</b>To understand the infection status and epidemic rule of new bunia virus in the livestock and poultry which are closely related with humans such as sheep, cattle, dogs, pigs and chicken in the hilly area of Jiaodong peninsula in Shandong province.</p><p><b>METHODS</b>Penglai and Laizhou in the hilly area of Jiaodong peninsula in Shandong province where severe fever with thrombocytopenia syndrome cases occurred in 2010 were selected as experimental sites. During April to November in 2011, serum specimens of the sheep, cattle, dogs, pigs and chicken with ticks in endemic area were randomly collected by random number table.5 ml venous blood was collected in each livestocks or poultries and there were total 3576 samples.New bunia virus antibody in different species of livestocks or poultries serum was continuously detected using double antigen sandwich enzyme-linked immunosorbent assay, and the infection rates of new bunia virus between different species of livestocks or poultries and between Penglai and Laizhou were analyzed using chi-square test.</p><p><b>RESULTS</b>Test results in 3576 samples of livestocks or poultries serum specimen showed that the infection rate was as high as 63% (636/1013) in sheep, 53% (444/841)in cattle, 46% (242/530) in chicken, 29% (104/362)in the dogs, and 1% (12/830) in pigs. There were significant differences of new bunia virus infection among different species (χ(2) = 815.26, P < 0.05).In Penglai, the infection rate was as high as 71% (400/563) in sheep, 57% (232/409)in cattle, 35% (93/266) in chicken, 44% (796/1819)in total, while in Laizhou, the infection rate was 53% (236/450)in sheep, 49% (212/432)in cattle, 56% (149/264)in chicken, 36% (642/1757)in total, their difference was statistically significant(χ(2) values were 37.04, 4.93, 24.63, 19.38, all P values were < 0.05).Infection rates of dogs and pigs showed no obvious fluctuation.However, there were two peaks of infection in sheep in summer and autumn, the infection rate was as high as 62% (68/110) in June and 86% (204/236) in November;There were two peaks of infection in cattle in spring and autumn, the infection rate was as high as 56% (53/94) in April and 73% (116/159) in November; there was only one peak of infection in chicken, the infection rate was as high as 65% (55/85) in September.</p><p><b>CONCLUSION</b>The infection rate is higher in sheep, cattle, chickens and dogs in the hilly area of Jiaodong peninsula. The peak season is spring, summer and autumn.</p>
Subject(s)
Animals , Cattle , Dogs , Bunyaviridae , Bunyaviridae Infections , Epidemiology , Chickens , China , Epidemiology , Livestock , Virology , Poultry , Virology , Sheep摘要
<p><b>OBJECTIVE</b>To determine the relatively appropriate actuation time for ovarian super-stimulation of IVF-ET by comparing the influences of different down-regulation days of chorionic gonadotrophin releasing hormone agonist (GnRH-a) upon the follicular diameter, endometrial thickness and the levels of follicle- stimulating hormone (FSH) , luteinizing hormone (LH) and estradiol (E2).</p><p><b>METHODS</b>We adopted the long protocol of GnRH-a down-regulation in the midluteal phase for 42 patients undergoing IVF-ET. According to the time of GnRH-a down-regulation, we divided the patients into a 10 d, a 15 d and an 18 d group, measured their follicular diameters and endometrial thickness by B-mode ultrasonography, detected the levels of FSH, LH and E2 in the blood, and analyzed the influences of different days of GnRH-a down-regulation on the follicular diameter, endometrial thickness and sexual hormone levels. At 1, 7, 10 and 14 d of down-regulation, we compared the levels of FSH and LH in the blood before the injection of GnRH-a with those 2 and 3 h after it.</p><p><b>RESULTS</b>At 10, 15 and 18 d after down-regulation, the ovarian follicles with the diameter of 3-4 mm accounted for 16.8, 7.09 and 10.38% (P < 0.05, 10 d vs 15 d and 18 d), those with the diameter of 4.5-7.0 mm made up 80.24, 89.55 and 84.62% (P < 0.05, 15 d vs 10 d and 18 d), and those with the diameter of 7.5-10 mm constituted 2.96, 3.36 and 5%, respectively. Endometrial thickness was (7.73 +/- 2.48) mm in the 10 d group, significantly thicker than (5.41 +/- 0.79) mm and (5.24 +/- 0.85) mm in the 15 d and 18 d groups (P < 0.05). The FSH levels in the 10 d, 15 d and 18 d groups were (3.70 +/- 1.10), (3.51 +/- 0.72) and (3.47 +/- 0.61) mIU/ml, the LH levels were (1.23 +/- 1.00), (1.09 +/- 0.47) and (1.22 +/- 0.72) mIU/ml, and the E2 levels were 41.84 +/- 36.81, 32.84 +/- 14.32 and 9.50 +/- 8.23, respectively, with no significant differences among the three groups. At 1, 7, 10 and 14 d of down-regulation, both FSH and LH levels in the blood were increased at 2 and 3 h after GnRH-a injection, most significantly at 1 d (1.87 +/- 1.49 vs 13.33 +/- 7.81 for FSH, 1.06 +/- 1.13 vs 47.40 +/- 29.97 for LH, (P < 0.05).</p><p><b>CONCLUSION</b>In the long protocol of ovarian super-stimulation of IVF-ET, endometrial thickness and the levels of FSH, LH and E2 tended to be stable at 10 d of GnRH-a down-regulation. The percentage of the follicles with the diameter of 4.5-7.0 mm was higher at 15 d than at 10 d, but rose no more at 18 d except for an increased number of smaller follicles 3-4 mm in diameter. Therefore, appropriate prolongation of GnRH-a down-regulation can improve the synchronism of follicular development.</p>
Subject(s)
Adult , Female , Humans , Estradiol , Blood , Follicle Stimulating Hormone , Blood , Follicular Phase , Blood , Gonadotropin-Releasing Hormone , Metabolism , Pharmacology , Luteinizing Hormone , Blood , Ovarian Follicle , Ovulation Induction , Uterus摘要
<p><b>OBJECTIVE</b>To identify the disease-causing gene in a four-generation Chinese family with 9 members affected with primary congenital lymphoedema (PCL, also known as Milroy disease).</p><p><b>METHODS</b>Linkage analysis was performed with a few microsatellite markers flanking the candidate genetic loci for PCL, including 3 known genes associated with autosomal dominant PCL. For mutation analysis, VEGFR3 gene was sequenced with DNA from the proband. Direct DNA sequencing of exon 25 of the VEGFR3 gene was performed in all family members.</p><p><b>RESULTS</b>The disease gene in the family was mapped to chromosome 5q35.3 with a maximum Lod score of 2.07. Direct DNA sequencing of VEGFR3 gene revealed a heterozygous C to T transition at nucleotide 3341, resulting in p.Pro1114Leu mutation. The p.Pro1114Leu mutation co-segregated with all affected individuals in the family.</p><p><b>CONCLUSION</b>This study identified a C3341T (p.Pro1114Leu) mutation in the VEGFR3 gene in a Chinese family with PCL, provided evidence that VEGFR3 mutation can cause PCL in Chinese.</p>
Subject(s)
Humans , Amino Acid Substitution , Asian People , Genetics , Cataract , Genetics , Genetic Loci , Lod Score , Lymphedema , Genetics , Microsatellite Repeats , Genetics , Mutation , Point Mutation , Vascular Endothelial Growth Factor Receptor-3 , Genetics摘要
<p><b>OBJECTIVE</b>To describe the clinical and genetic characteristics of a Chinese family affected with optic atrophy 1 (OPA1).</p><p><b>METHODS</b>Linkage analysis and DNA sequencing as well as PCR/restriction fragment length polymorphism (RFLP) analysis were performed to identify the disease-causing mutation.</p><p><b>RESULTS</b>A missense mutation, G401D in the OPA1 gene was identified, and the patients demonstrate inherited syndrome of optic atrophy and hearing loss.</p><p><b>CONCLUSION</b>The present study demonstrates that a mutation in the OPA1 gene can cause optic atrophy in Chinese patients, and supports the notion that OPA1 mutation may lead to OPA1 combined with hearing loss.</p>
Subject(s)
Adult , Child , Female , Humans , Male , Middle Aged , Base Sequence , China , Chromosomes, Human, Pair 3 , Genetics , DNA Mutational Analysis , Family Health , GTP Phosphohydrolases , Genetics , Hearing Loss , Genetics , Mutation , Optic Atrophy, Autosomal Dominant , Genetics , Polymerase Chain Reaction , Polymorphism, Restriction Fragment Length摘要
<p><b>OBJECTIVE</b>To identify mutations in GATA4 gene in Chinese patients with sporadic congenital heart defects (CHD).</p><p><b>METHODS</b>Single stranded conformation polymorphism (SSCP) analysis was performed to screen for mutations in all six exons and exon-intron boundaries of GATA4 in 31 individuals with CHD. Direct DNA sequencing was used to identify the specific mutations.</p><p><b>RESULTS</b>Two novel missense mutations, V267M in exon 4, V380M in exon 6, and one polymorphism in intron 6 of GATA4 were identified.</p><p><b>CONCLUSION</b>The above identified two novel GATA4 mutations associated with CHD in Chinese patients. This suggests that the transcription factor GATA4 may play an important role in cardiogenesis.</p>