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RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid, amino acid, and choline metabolism. The clinical manifestation of MADD is heterogeneous, from severe neonatal forms to mild late-onset forms. PATIENT CONCERNS: Here, we report a patient who presented with severe hypoglycemia and exercise intolerance suggestive of MADD. Serum tandem mass spectrometry analysis indicated elevated levels of various acyl carnitines at 25 days of age. Exome sequencing of the proband revealed compound heterozygous mutations, c. 413T>G (p.Leu138Arg) and c.1667C > G (p.Pro556Arg), in the ETFDH gene as the probable causative mutations. DIAGNOSES: Based on the patient's clinical presentation and test results, the patient was diagnosed with MADD. INTERVENTIONS: A high-calorie and reduced-fat diet was given together with oral supplements of L-carnitine (150âmg/day). OUTCOMES: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness. LESSONS: He passed away at the age of 4 months because of severe respiratory distress accompanied by muscle weakness. Clinicians should consider MADD in the differential diagnosis when patients present with muscle weakness and biochemical abnormalities. Gene testing plays a critical role in confirming the diagnosis of MADD and may not only prevent the need for invasive testing but also allow for timely initiation of treatment.
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Flavoprotéines de transfert d'électrons/génétique , Ferrosulfoprotéines/génétique , Déficit multiple en acyl CoA déshydrogénase/génétique , Oxidoreductases acting on CH-NH group donors/génétique , Humains , Nouveau-né , Mâle , MutationRÉSUMÉ
Objective To investigate the optimal initial concentration of microRNA22 agomir in epilepsy model induced by lithium chloride-pilocarpine after single injection of lateral ventricle.Methods 36 rats with acute temporal lobe epilepsy were randomly divided into 6 groups:the control group and the other five groups were the experimental group.All epilepsy rats were selected for right lateral ventricle injection.The control group was given negative control reagent,while the experimental group were given 0.1 mmol/L,2.5 mmol/L,5 mmol/L,10 mmol/L,20 mmol/L different concentrations of miRNA22agomir reagent.6 rats in each group were randomly selected for acute phase experiment after 3 days of administration.The expression of P2X7 in hippocampus of epilepsy rats was determined by Western blot and quantitative real-time polymerase chain reaction (qRT-PCR).Results Compared with control group,the protein and mRNA expression of P2X7 reduced in all of the model group.The protein and mRNA expression level of P2X7 protein in hippocampus of rats injected with 2.5 mmol/L,5 mmol/L and 10 mmol/L in each experimental group were significantly lower than that in the other two groups (P < 0.05).Moreover,the protein and mRNA expression level of P2X7 were the lowest at 2.5 mmol/L injection and 10 mmol/L,and there was no significant difference between the two groups (P > 0.05).Conclusions The optimal onset concentration for unilateral lateral ventricle injection miRNA22 agomir treatment of temporal lobe epilepsy is 2.5 mmol/L.
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Objective To investigate the effect of microRNA-22 (miRNA-22) on the expression of P2X7 receptor and inflammatory factors in hippocampus of rats with epilepsy. Methods Healthy SD male rats were intraperitoneal injected with lithium chloride and pilocarpine to induce epilepsy. Three days later, 45 epileptic rats were randomly divided into three groups: epilepsy group( EP group), miRNA-22 agomir group (EF+agomir group) and miRNA-22 agomir control group ( EF+agomir control group). Another 15 healthy rats were selected as control group(N group). The expression of P2X7 protein was detected by West- ern blot and the levels of miRNA-22, P2X7 mRNA, NF-κB mRNA ,IL-1β mRNA were detected by qRT-PCR. Nissl staining was used to observe the damage of Nissl bodies. Results Western blot result showed that compared with the N group(0. 91±0. 10), the level of P2X7 protein in EP group (1. 17±0. 052) in-creased, and the difference was statistically significant (t=-4. 11,P=0. 02). Compared with the EP+ag-omir control group(0. 94± 0. 14),the expression of P2X7 protein in EP+agomir group (0. 66± 0. 06) de-creased and the difference was significant (t=-3. 10,P=0. 04). And the qRT-PCR results showed that compared with N group, the levels of P2X7mRNA (9. 08±0. 94), NF-κB mRNA (20. 10±2. 15) and IL-1β mRNA (50. 64±5. 42) in EP group increased(t=-14. 96,P<0. 05; t=-15. 38,P<0. 05; t=-15. 87,P<0. 05). The expression of P2X7mRNA (1. 31 ± 0. 64), NF-κB mRNA ( 2. 28 ± 1. 10) and IL-1β mRNA (2. 12±1. 20) in EF+agomir group decreased compared with EP group((9. 08± 0. 94),( 20. 10± 2. 15), (50. 64±5. 42)) and EF+agomir control group((7. 03 ±1. 90),(18. 72±1. 76),(47. 39±6. 16)), and the differences were statistically significant(F=29. 77, P<0. 01;F=98. 99, P<0. 05;F=96. 29, P<0. 01). Nissl staining results showed that a large number of morphologically abnormal and disintegrated Nissl bodies could be observed in the hippocampal CA1 and CA3 regions of EP group,which showed a smaller size,irreg-ular morphology,chromatin pyknosis,boundary blur between nucleus and cytoplasm. Compared with the nor-mal group, the difference was significant (P<0. 05). While in miRNA-22 agomir group, the disintegration of Nissl bodies was improved and the number of Nissl bodies increased. Conclusion Intraventricular injec-tion of miRNA-22 agomir can down-regulate the expression of P2X7 receptor and related inflammatory factors in hippocampus of epileptic rats, thus inhibiting seizures.
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Objective To analyze the clinical effect of uterine artery ligation combined with modified uterine compression suture in the prevention and treatment of postpartum hemorrhage.Methods A total of 107 patients with refractory cesarean section who were treated with uterine artery ligation combined with modified uterine compression suture were selected as treatment group.Of the patients treated with conventional treatment,83 patients were included in the control group.The effective hemostasis rate,clinical curative effect,incision infection,postpartum hemorrhage,blood transfusion rate,mattress rate and postoperative morbidity were compared between the two groups.Results The amount of intraoperative blood loss (1 106 ± 458.78) mL in the treatment group was significantly higher than (753.6 ±302.30)mL in the control group,the difference was statistically significant (t =1.892,P < 0.05).The 24h total blood loss of the the treatment group [(1 028.89 ± 375.87) mL] was significantly higher than (813.87 ± 312.15) mL of the control group (t =3.872,P < 0.05).The postoperative 24h blood loss in the treatment group [(70.86 ±19.30)mL] was lower than (73.50 ± 21.20)mL in the control group,and the difference was not statistically significant (t =0.045,P > 0.05).The transfusion rate in the treatment group was 27.10%,which in the control group was higher than 10.84%,the difference was statistically significant between the two groups (x2 =7.722,P < 0.05).The effective hemostasis rate in the treatment group was 99.66% (106/107),which was significantly higher than 96.39% in the control group (x2 =6.263,P < 0.05).The rate of puerperal infection was 7.48% in the treatment group,which in the control group was 6.02%,there was no significant difference between the two groups (P > 0.05).The incision infection rate and postoperative morbidity rate were 0.00% in the treatment group and the control group,and the two groups were treated with Ⅱ / A healing.Conclusion Uterine artery ligation combined with improved uterine compression suture in the prevention and treatment of postpartum hemorrhage has good hemostasis effect,hysterectomy rate is low,it is worthy of promoting and application.
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Objective To investigate and analyze the monitoring status of birth defects of perinatal infants in Hakka of Guangxi Zhuang Autonomous Region,and to provide evidence for reducing the incidence of birth defects and improving prevention decision for the quality of birth.Methods The data of 51 528 cases of perinatal birth defects monitoring were analyzed in Bobai and Luchuan counties in 2015.Results The distribution of birth defects in the perinatal infants of Hakka was more than 75.14%,28.8% of the birth defects occurred in 28 weeks,51 528 cases of perinatal birth in hospital,birth defects of ≥28 weeks in 384 cases.The incidence rate of birth defects was 28.5%, the rate of birth was 7.45‰.The birth defect of ≥28 weeks was diagnosed,35 cases were fetal edema syndrome, accounted for 9.11%.34 cases were congenital heart disease,accounted for 8.85%,30 cases were cleft lip with cleft palate,accounted for 7.81%.Congenital hydrocephalus in 5 cases,accounted for 1.30%;other in 251 cases,accoun-ted for 65.35%.The diagnosed time distribution of birth defects of ≥28 weeks:prenatal diagnosis accounted for 21.18%,postnatal 7 days accounted for 78.82%.The outcome of ≥28 weeks of perinatal birth defects in Hakka:live birth accounted for 73.18%,fetal death accounted for 20.57%,stillbirth accounted for 1.30%,seven days of death accounted for 4.94%.Conclusion The perinatal birth defects in Hakka is live births to the main,the prevention of perinatal birth defects in children live birth measures should be strengthened,the detection of birth defects should be strengthened and the pregnancy of artificial birth defects should be terminated,so as to improve the quality of the birth population.
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Objective To explore the clinical efficacy and the influence of one-port,three-port and four-port laparoscopic cholecystectomy on quality of life in patients with laparoscopic cholecystectomy.Methods The clinical data of 60 patients with laparoscopic cholecystectomy were reviewed,and to compare the general condition,the influence of postoperative recovery and complications,disease of digestive system and the quality of life index in patients treated by one-port laparoscopic cholecystectomy(one-port group),three-port laparoscopic cholecystectomy(three-port group) and four-port laparoscopic cholecystectomy(four-port group).Results Although the time of operation in oneport group was longer than the other two groups (t =3.82,P < 0.05 ; t =4.04,P < 0.05),there were significant differ ences in the volume of the inoperative blood loss,hospital stay time,hospital costs in one-port group compared with the other two groups (P < 0.05).There was no difference among the three groups in the incidence of postoperative complications (P > 0.05).And when leaving hospital,the score of all dimensionalitis in the scale of Gastrointestinal quality of life index (CIQLI),containing the state of physiological function,state of daily life and social activities,psychological emotional state and quality of life of the total score were all higher than those in the other two groups (t =2.22,1.87,2.31,2.43,all P < 0.05),and there was no difference between three-port group and four-port group(P > 0.05).Conclusion Compared with the three-port laparoscopic cholecystectomy and four-port laparoscopic cholecystectomy,one-port laparoscopic cholecystectomy can reduce the inoperative blood loss,shorten hospitalization time and reduce their fee in hospital,and it also can effectively improve patients'quality of life,restore the patients'normal work and life in the shortest possible time.
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Objective The aim of this study was to observe the anesthetic effect of xylazine hydrochloride Injection on Beagle dogs.Methods Anaesthetizing 30 healthy Beagles with xylazine hydrochloride injection, some physiological indexes of the dogs, such as body temperature (T), respiration (R), heart rate (P), and blood pressure (systolic pressure SBP, diastolic pressure DBP), were monitored.Results After using xylazine hydrochloride injection, the body temperature, respiration, heart rate, blood pressure, and peripheral vascular resistance were decreased in the Beagles.Conclusion Xylazine hydrochloride injection can keep a stable induction period, and has advantages including powerful and quick effect, simple method and operation, safe and insignificant toxicity and side effects,and has a better effect of anaesthesia.
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<p><b>OBJECTIVE</b>To study pharmacokinetic parameters and absolute bioavailability for oral use of sinomenine tablet in beagle dogs.</p><p><b>METHOD</b>Applying to double cycle self crossover design, a single oral or intravenous dose of 10 mg x kg(-1) sinomenine was given to 10 beagle dogs. Drug concentrations in plasma were determined by HPLC. The pharmacokinetic parameters were calculated by 3P97 pharmacokinetic program.</p><p><b>RESULT</b>The concentration-time curves of oral administration fitted to one compartment model in the beagle dogs. The T(max), C(max), t1/2 and AUC(0-T) was (82.5 +/- 13.9) min, (0.15 +/- 0.027) mg x L(-1), (87.6 +/- 28.3) min and (28.43 +/- 3.48) mg x min x L(-1), respectively. The concentration -time curves of i.v. fitted to two compartment model in the beagle dogs. The t1/2beta and AUC(0-T) was (106.7 +/- 120.2) min and (93.32 +/- 82.08) mg x min x L(-1). The absolute bioavailability for oral use was (30.46 +/- 4.24)%.</p><p><b>CONCLUSION</b>The absolute bioavailability of sinomenine is low, and the elimination of sinomenine tablet is fast.</p>
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Animaux , Chiens , Femelle , Mâle , Biodisponibilité , Médicaments issus de plantes chinoises , Pharmacocinétique , Injections veineuses , Morphinanes , Pharmacocinétique , Distribution tissulaireRÉSUMÉ
Objective:To study the in vitro effect of adipose stromal stem cells(ASC) on phenotype and secretion of cytokines of allogenetic T lymphocytes,and to elucidate the possible roles of ASC for immunomodulation.Methods:ASC was isolated and cultured.The supernatant of ASC and ASC itself were co-cultured with allogenetic T lymphocytes.MTT assays were used to detect the proliferative rates of T cells.Annexin-Ⅴ/PI staining was used to detect apoptotic rates,and flow cytometry to detect the proportion of CD4+CD25+ cells.ELISA was used to detect the secretion of IL-10 and TGF-?1.Reverse transcription-polymerase chain reaction(RT-PCR) was used to detect the expressing level of Foxp3 gene.Results:The supernatant of ASC had no deep impact on the proliferation and apoptosis of T lymphocytes.ASC had the direct inhibitory effect on growth of T lymphocytes,while the stem cells did not affect apoptosis.Both the supernatant of ASC and ASC itself increased the proportion of CD4+CD25+ cells in T lymphocytes,and increasd the level of IL-10 and TGF-?1.They could also up-regulate expressing level of Foxp3 in T cells.Conclusion:ASC can affect the function of T lymphocytes via cell-to-cell contact and secretion of cytokines.By these ways ASC exhibits negative immunomodulation and plays an important role in inducing immune tolerance.