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Objective:To investigate the clinical characteristics and pathogenic mutations of propionic acidemia.Methods:Clinical data of two patients with propionic acidemia admitted to the Obstetrics and Gynecology Hospital of Nanjing Medical University from May 2017 to June 2018 were collected. Genomic DNA was extracted from the peripheral blood of the patients and their parents. Inherited disease panel based on Ion Torrent semiconductor sequencing technology was performed to detect gene mutations, and those with suspected pathogenic mutations were verified by Sanger sequencing. Descriptive statistical analysis was used for data analysis.Results:Case 1 was suspected of sepsis and admitted to the Obstetrics and Gynecology Hospital of Nanjing Medical University due to "drowsiness and milk rejection" on the second day after birth. Tandem mass spectrometry suggested the level of propionyl carnitine and its ratios to acetylcarnitine and free carnitine were increased. Urine gas chromatography-mass spectrometry showed elevated 3-hydroxypropionic acid and methylcitric acid. Genetic analysis revealed that the infant carried c.331C>T (p.R111X)/c.1228C>T (p.R410W) compound heterozygous mutations in the PCCB gene. The infant was diagnosed with propionic acidemia and treated with a special diet with an L-Carnitine supplement but died of sudden coma and vomiting without precipitating factors at three months of age. Case 2 presented with sudden vomiting, drowsiness, and anergia on the admission at five-months old. Tandem mass spectrometry showed increased propionyl carnitine level and its ratios. Compound heterozygous mutations of c.146delG (p.G49EfsX16)/c.1253C>T (p.A418V) in the PCCB gene were identified in the patient, of which c.146delG (p.G49EfsX16) was a de novo mutation and was evaluated as a pathogenic mutation. The patient was on a special diet with an L-Carnitine supplement, but with disobedience. Followed up to the age of three years and eight months, the child was severely underdeveloped. Conclusions:Neonates with clinically suspected sepsis may have propionic acidemia, and tandem mass spectrometry and genetic testing should be performed as soon as possible to confirm or rule out the diagnosis. Further investigations on the pathogenesis and function of the new mutation are still needed.
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Objective@#To explore the genetic basis for an infant with early-onset argininemia.@*Methods@#Potential variant was detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases. Suspected variants were verified by Sanger sequencing.@*Results@#Genetic testing indicated that he has carried c. 560+ 2T>C and c. 811T>C compound heterozygous variant of the AGR1 gene, which were inherited from his father and mother, respectively. Among these, c. 560+ 2T>C was suspected to be pathogenic, while c. 811T>C was of unknown clinical significance, and both were not reported previously.@*Conclusion@#The c. 560+ 2T>C and c. 811T>C compound heterozygous variants of the AGR1 gene probably underlies the argininemia in this child. Above finding has enriched the variant spectrum of the AGR1 gene.
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OBJECTIVE@#To explore the genetic basis for an infant with early-onset argininemia.@*METHODS@#Potential variant was detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases. Suspected variants were verified by Sanger sequencing.@*RESULTS@#Genetic testing indicated that he has carried c.560+2T>C and c.811T>C compound heterozygous variant of the AGR1 gene, which were inherited from his father and mother, respectively. Among these, c.560+2T>C was suspected to be pathogenic, while c.811T>C was of unknown clinical significance, and both were not reported previously.@*CONCLUSION@#The c.560+2T>C and c.811T>C compound heterozygous variants of the AGR1 gene probably underlies the argininemia in this child. Above finding has enriched the variant spectrum of the AGR1 gene.
Subject(s)
Female , Humans , Infant , Male , Arginase , Genetics , Genetic Testing , Hyperargininemia , GeneticsABSTRACT
Objective To investigate the correlation between the prevalence of hyperuricemia (HUA) and metabolic syndrome (MS) in community residents in Xicheng District of Beijing. Methods A total of 834 permanent residents were se-lected for the survey. The values of height, body mass index (BMI), systolic blood pressure (SBP), diastolic blood pressure (DBP), serum uric acid (UA), fasting plasma glucose (FPG), total cholesterol (TC), triglyceride (TG) and high density lipopro-tein-cholesterol (HDL-C) were recorded. Subjects were divided into HUA and non-HUA groups. Based on four components of MS, subjects were divided into (1) MS0 group (no any component of MS), (2) MS1 group (one component of MS), (3) MS2 group (two components of MS), (4) MS3 (three components of MS) and (5) MS4 group (four components of MS). The relation-ship of HUA and components of MS was analyzed. Results The total prevalence of hyperuricemia was 12.0%in 834 sub-jects. The prevalence of hyperuricemia were significantly higher in male subjects than those of female subjects[21.8%(83/381) vs 3.8%(17/453),χ2=63.765,P<0.01]. Values of BMI, SBP, DBP, TC and TG were significantly higher in HUA group than those of non-HUA group (P<0.01). There were no significant differences in levels of HDL-C and FPG between two groups. The prevalence of overweight/obesity, hypertension, hyperglycemia and dyslipidemia were significantly higher in HUA group than those of non-HUA group (P<0.01). The prevalence of HUA gradually increased with the accumulation of MS components (χ2=46.347, P<0.01). Conclusion Hyperuricemia and metabolic syndrome are closely related. We should pay more attention to monitor the serum uric acid levels.
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<p><b>OBJECTIVE</b>To evaluate the effect of external use of papaverine cream on enhancement of tissue expansion.</p><p><b>METHODS</b>8 mini pigs were randomly divided into 4 groups. During inflation, papaverine was given externally in group A, through a delivery system in group B, though intramuscular injection in group C. Papaverine was not given in group D. The time of inflation, the expansion rate, the surviving length of expanded flaps and the papaverine concentration in the fibrous capsule in each group were examined. Histologic and electroscope examinations of the expanded tissue were made.</p><p><b>RESULTS</b>The average inflation time was 28.9 +/- 4.5 days in group A, 34.0 +/- 2.6 days in group B, 37.6 +/- 4.8 days in group C and 38.5 +/- 3.5 days in group D. There was significant difference between each group(P < 0.05). The average surviving length of expanded flaps in group A was 13.67 +/- 1.28 cm, 11.07 +/- 0.88 cm in group B, 10.79 +/- 0.49 cm in group C, and 9.49 +/- 0.77 cm in group D. There was significant difference between each group (P < 0.01). Histologic examinations of the expanded tissue suggested that there were no significant differences in thickness of epidermis, derma and fibrous capsule among the four groups. Electroscope examinations of the myofibroblast in fibrous capsule showed that there were smaller nuclei, fewer microfilaments and fewer mitochondrias and rougher endoplastic reticulume in group A than those in other groups. The concentration of papaverine in fibrous capsule of group A was 3.5 +/- 1.2 micrograms/g. Papaverine was detected neither in the skin of other groups nor in the blood of all groups.</p><p><b>CONCLUSIONS</b>1. Papaverine cream can permeate through skin and maintain high concentration and continuous effect in local tissue. 2. External use of papaverine cream can inhabit the function of myofibroblast in fibrous capsule, increase inflation rate, accelerate expansion process, and improve microcirculation of the expanded skin with a result of prolongation of surviving length of expanded flaps. 3. The technique of enhancing tissue expansion with external use of papaverine has the advantages of convenient delivery, cheapness, no more injury and infection, and no side effects etc. It is a safe, effective, simple, and reliable method for accelerating tissue expansion.</p>
Subject(s)
Animals , Papaverine , Pharmacokinetics , Skin , Surgical Flaps , Swine , Swine, Miniature , Time Factors , Tissue Expansion , Vasodilator AgentsABSTRACT
Objective:To establish fusion PCR for amplification of the full-length cDNA of dengue virus type 2. Methods:According to the published nucleotide sequence of D2-43,the primers were devised and the 5′ and 3′ half genomic cDNAs of dengue virus type 2 were amplified by long reverse transcription PCR. Using the PCR products as model,the approximate 11 kb full-length cDNA was amplified by fusion PCR. The sequence containing the 5′ noncoding region was determined by PRISMTM ABI 377 automated sequencer.Results:Using fusion PCR,the full-length cDNA of dengue virus type 2 was successfully amplified and its correctness was proved by partial nucleotide sequences analysis. To our best knowledge, this is the first report of the same kind.Conclusion:Fusion PCR is an effective method to amplify the genomic cDNA of dengue virus.
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Background and purpose:Huachansu has been widely used to treat cancer in China.But maximum tolerated dose(MTD) of huachansu is still not well defined.The purpose of this study was to conduct a Phase Ⅰ study to determine the MTD of huachansu in the treatment of patients with hepatocellular carcinoma,non-small cell lung or pancreatic cancer.Toxic profile and efficacy of huachansu were also assessed qualitatively.Methods:Huachansu was intravenously administered to patients with stage Ⅲ/Ⅳ hepatocellular carcinoma,non-small cell lung cancer,or pancreatic cancer.Each cycle consisted of daily huachansu for 14 days with an interval of 7 days between two cycles.2 or more cycles were delivered to the patients if no severe adverse event occurred.The planned dose escalation schedule for huachansu was as follows,10,20,40,60,90 and 120 ml/(m2?d).Results:Fifteen patients(3 at each level) have been recruited to the study(11 with hepatocellular carcinoma,2 with pancreatic cancer,and 2 with lung cancer).There were no dose limiting toxicities found after dose level 5.Among all these patients,the efficacy in 14 patients could be valued,in which,6 were SD(42.9%),8 were PD(57.1%).At dose level 1,there was one patient with hepatocellular carcinoma achieving a 20% reduction in tumor mass that lasted 11 months,6 of 15(42.9%) patients with stable disease and 8 of 15(57.1%) with progress disease after the treatment.Conclusions:To date,dose limiting toxicity has not been seen with doses up to eight times higher than that typically used before.Of interest, several patients had prolonged stable disease or minor tumor shrinkage.
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Objective To make cephalometric analysis on the morphology of mandibular angle and its relationship with adjoining craniomaxillofacial structures in adults, and to discuss the application of the results in preoperative analysis and operation design. Methods Cephalometric analysis was made on the following parameters in 30 adults (15 men and 15 women) for frontal and lateral cephalometric radiograms: the distance between the mandibular angles (Go Go) and between the malar points (Zy Zy), and the mandible mental angels (Zy Go Me) on an anteroposterior cephalometric radiograph; the gonial angle (Ar Go Me), mandibular plane sella nasion angle (MP SN) and ramus plane sella nasion angle (RP SN). Results Go Go in male was (130?6) mm, female (116?6) mm; Zy Zy in male was (156?5) mm, female (146?5) mm; Zy Go Me in male was (117?5)?, female (119?5)?; Ar Go Me in male was (117?5)?, female (119?5)?; MP SN in male was (27?5)?, female (29?5)?; RP SN in male was (94?5)?, female (93?5)?. Conclusion The morphology of mandibular angle should be envisioned in three directions. The results of evaluation can be served as the reference of preoperative analysis and surgery design.
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Objective To study the histologic characteristics of the capsule of breast implant. Methods Four miniprostheses were seperatelly implanted in four positions beneath the panniculus carnosus muscle in 30 rabbits. After 3 weeks, 1, 2, 3, 4, 6 and 12 months, capsular histology examination and the assay of capsular collagen content and type were performed. Results ⑴ Capsule was divided into two layers: the inner layer was dense and the outer loose connective tissues. Collagen component was more, cellular component was less and capsule was thicker (P0.05). ⑵ Capsular collagen content increased gradually in 3 months (P0.05). ⑶Collagen fibers were the most component, reticular fibers were second and elastic fibers were least. After 3 months, elastic fibers decreased, and collagen and reticular fibers became full layer gradually. ⑷ Capsular collagen type I in the capsule was gradually increased and type III decreased before 3 months. There were no significant changes after 3 months. Conclusions Histology of the implant capsule is similar to that of scar and the result of wound healing around implant.
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ObjectiveTo observe if augmentation mammaplasty with m in iprostheses can induce the length of incision and incidence of the capsular cont racture and silicone leakage in order to optimize the mammaplasty for micromasti a. Methods The study proposed a new augmentation mammaplasty w ith miniprostheses, which were a series of 10 ml siliconegel prostheses(minipros theses). The surgery was similar to the conventional augmentation mammaplasty. T he every miniprosthesis was inserted one by one beneath the pectoral muscle unti l the desired volume was achieved and defined very objectively during the surger y. The incision used was never more than 3 cm, and located in any of the sites a lready described in the literature. ResultsThe authors had per formed 5 cases of small breast. Follow-up duration ranged from 3 months to 6 y ears. The results were satisfictary. ConclusionsThere are some advantages of augmentation mammaplasty with miniprostheses, such as smaller inc isions, intraoperative assessment of the ideal size of the breast, low incidence of capsular contracture, facility in the handling of the technique, safety conc erning perforation of the implant and use for augmentation mammaplasty, and tot al and especially partial breast reconstruction.
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Objective: Identification of the genes specially expressed in tumor cell but not in normal cell is important for understanding the molecular mechanisms of carcinogencsis. This study will focus on identification of differentially expressed gene fragments in human stomach cancer. Methods: By using the new developing mRNA differential display (DD) technique, genes fragments differentially expressed in stomach cancer tissues from a patient and the adjacent normal tissues beyond the tumor mass were studied. Results: Two differentially displayed complementary DNA fragments from stomach cancer tissues, scgl and scg2 (stomach cancer-associated gene, scg), cofirmed by Northern Blot, were cloned and sequenced. The nucleotide length of scgl is 194 base pairs and that of scg2 is 343 base pairs. After searching against GenBank databases by BLASTN, neither scgl nor scg2 had significant homological gene sequences with the known genes. Conclusion: These results suggested scgl and scg2 might be complementary DNA fragments of novel genes expressed in stomach cancer tissues, but not in normal tissues and may play a role in the occurrence and development of stomach cancer. Further characterization of full-length of these two complementary DNA fragments will be continued.