RESUMO
Objective:To study the clinical manifestations and genetic characteristics of neonatal-onset primary mitochondrial disease (PMD) caused by nuclear gene mutations.Methods:From May 2020 to March 2022, the clinical data, genetic results and follow-up information of neonates with PMD admitted to the Department of Neonatology of our two hospitals were retrospectively analyzed.Results:A total of 4 patients were enrolled, all with hyperlactatemia and metabolic acidosis. In case 1, the fetal cranial MRI showed agenesis of corpus callosum. In case 2, echocardiography after birth indicated hypertrophic cardiomyopathy. Whole exome sequencing found the following mutations: EARS2 nuclear gene c.1294C>T and c.971G>T variants, COA6 nuclear gene c.411_412insAAAG variant, ACAD9 nuclear gene c.1278+1G>A and c.895A>T variants, FOXRED1 nuclear gene c.1054C>T and c.3dup variants. Mitochondrial second-generation sequencing and multiplex ligation-dependent probe amplification showed no abnormalities. Cases 1 and 3 died during the neonatal period. Case 2 died at 2-year-and-2-month of age. Case 4 was followed up to 1 year of age with developmental delay.Conclusions:The main phenotypes of neonatal-onset PMD caused by nuclear gene mutations are hyperlactatemia, refractory metabolic acidosis and cardiomyopathy, which have a poor prognosis. Proactive genetic tests are helpful for early diagnosis.
RESUMO
Frostbite is a tissue injury that occurs when the body is exposed to extreme cold. Its pathological mechanism is complex and has not been fully elucidated. In high cold and high altitude areas, outdoor sports people have a high risk of injury, and severe frostbite has high disability and mortality. Exploring the pathological mechanism of frostbite is helpful to determine the treatment methods and timing. At present, the clinical treatment of frostbite is mainly symptomatic treatment, such as drug treatment and surgical treatment, but the curative effect can not meet the clinical needs. Therefore, it is of great significance to seek more efficient drugs or treatment methods. This article reviews the relevant research progress in pathophysiological mechanism, clinical treatment, cellular and molecular pathways of frostbite in recent years, in order to provide new ideas for future research and clinical treatment.
RESUMO
The PRR11 gene (Proline Rich 11) has been implicated in lung cancer; however, relationship between PRR11 and immune infiltration is not clearly understood. In this study, we used The Cancer Genome Atlas (TCGA) data to analyze the lung adenocarcinoma patients; PRR11 gene expression, clinicopathological findings, enrichment, and immune infiltration were also studied. PRR11 immune response expression assays in lung adenocarcinoma (LUAD) were performed using TIMER, and statistical analysis and visualization were conducted using R software. All data were verified using Gene Expression Profiling Interactive Analysis (GEPIA), and the Human Protein Atlas (HPA). We found that PRR11 was an important prognostic factor in patients with LUAD. PRR11 expression was correlated with tumor stage and progression. Gene Set Enrichment Analysis (GSEA) showed that PRR11 was enriched in the cell cycle regulatory pathways. Immune infiltration analysis revealed that the number of T helper 2 (Th2) cells increased when PRR11 was overexpressed. These results confirm the role of PRR11 as a prognostic marker of lung adenocarcinoma by controlling the cell cycle and influencing the immune system to facilitate lung cancer progression.
Assuntos
Humanos , Prognóstico , Adenocarcinoma de Pulmão/genética , Neoplasias Pulmonares/genética , Bioensaio , Ciclo CelularRESUMO
Objective:To compare surgical methods and clinical efficacy among different types of cesarean scar pregnancy (CSP).Methods:A total of 158 patients with CSP who received treatment in Yuncheng Central Hospital from January 2016 to June 2019 were included in this study. According to Expert Consensus on Diagnosis and Treatment of Cesarean Scar Pregnancy (2016 version), type I CSP was found in 55 patients, type II in 86 patients and type III in 17 patients. These patients were divided into groups A (ultrasound-guided suction curettage), B (uterine artery chemoembolization + ultrasound-guided suction curettage) and C (laparoscopic scar pregnancy lesion resection + scar repair) according to different surgical methods. The amount of intraoperative blood loss, the difference in human chorionic gonadotropin (HCG) level between before and after surgery, the time to postoperative HCG level returning to normal level, menstruation recovery, and re-pregnancy were compared between groups.Results:The amount of intraoperative blood loss in the groups A, B and C was (43.33 ± 72.31) mL, (34.41 ± 17.16) mL, (65.71 ± 70.52) mL, respectively. There was significant difference between groups ( F = 8.51, P = 0.014]. The difference in HCG level between before and after surgery in groups A, B and C was (0.64 ± 0.18), (0.79 ± 0.10), (0.76 ± 0.19), respectively. There was significant difference in the difference in HCG level between groups ( F = 19.21, P < 0.001). There was significant difference in the incidence of postoperative menstrual volume reduction between group B and the other two groups ( χ2 = 6.73, P = 0.003). After surgery, intrauterine pregnancy occurred in 12 patients, including 8 patients in group A (type I CSP in 2 patients, type II CSP in 3 patients, type III CSP in 3 patients), 4 patients in group B (type I CSP in 3 patients, type II CSP in 1 patient). Finally, full-term fetus delivery by cesarean section was performed in 6 patients (4 patients in group A and 2 patients in group B). Conclusion:Uterine artery chemoembolization combined with uterine curettage had less blood loss, during surgery and leads to an obvious decrease in HCG level, but it can result in reduction of menstrual volume. Ultrasound-guided suction curettage is preferred for type I and type II CSP. Balloon compression can be used to stop bleeding if massive bleeding occurs. Laparoscopic scar pregnancy lesion resection plus scar repair is recommended for type III CSP.
RESUMO
Objective:To investigate the pathogenesis, precaution and treatment of neonatal congenital complete heart block (CCHB) in twins.Methods:The clinical data of a case of premature twins with neonatal CCHB from the Department of Neonatology, the First Affiliated Hospital of Xinxiang Medical University were retrospectively analyzed and related literature was reviewed.Results:(1)Case review: the 37-year-old gravida had no symptoms.Fetal ultrasound cardiogram(fUCG)at 23 weeks of gestation indicated bradycardia and CCHB.Then, the mother was diagnosed with undifferentiated connective tissue disease.After treatment with human immunoglobulin, dexamethasone and hydroxychloroquine, fUCG at 31 weeks of gestation still suggested CCHB.An emergency cesarean section was performed on the diagnosis of threatened preterm labor.With weakly positive neonatal antinuclear antibody (ANA), and positive Ro60 and Ro52 autoantibodies, twins were diagnosed with CCHB by 24 hour-Holter monitors.One of the twins was discharged with CCHB (ventricular rate of 80-90 times/min) after systemic therapy, but the weight increased to 2 200 g. The other one of the twins suffered from the sudden decrease of heart rate and blood pressure and finally died of sudden cardiac arrest.(2) Literature search: two cases in Chinese and 9 cases in English were reviewed.Among them, 9 cases were sjogren syndrome type A (SSA)/Ro and sjogren syndrome type B(SSB)/La related CCHB, and 2 cases were idiopathic CCHB.Conclusions:The placental transfer of anti-SSA or anti-SSB is an important mechanism of neonatal CCHB in twins, and other factors may also be involved.Current treatments are unsatisfactory.Most patients need pacemaker implantation.Early diagnosis and prenatal management can improve the prognosis.
RESUMO
<p><b>OBJECTIVE</b>To investigate the characteristics of pulmonary function in children with atypical asthma with chest tightness as the chief complaint before and after a bronchial provocation test.</p><p><b>METHODS</b>This study included 34 children with atypical asthmas who underwent bronchial provocation test between January 2010 and December 2013. Thirty-four children with typical asthmas were selected as the control group. The pulmonary function of the atypical asthma group was examined before and after the bronchial provocation test and compared with that of the control group in the acute episode and remission stages.</p><p><b>RESULTS</b>The forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), FEV1/FVC, peak expiratory flow, forced expiratory flow 25%, 50%, 75% (FEF25, FEF50, FEF75), and maximum mid-expiratory flow (MMEF75/25) in the atypical asthma group before the bronchial provocation test were (105±12)%, (104±12)%, (100±7)%, (88±13)%, (90±14)%, (81±17)%, (73±25)%, and (80±17)%, respectively; these functional indices were significantly higher than in the control group in the acute episode stage (P<0.05), but were similar to those of the control group in the remission stage (P>0.05). In addition, no significant difference in pulmonary indices was observed between the atypical asthma group after the bronchial provocation test and the control group in the acute episode stage (P>0.05), but functional indices above were significantly lower in the atypical asthma group after the bronchial provocation test than in the control group in the remission stage and the atypical asthma group before the bronchial provocation test (P<0.05).</p><p><b>CONCLUSIONS</b>Bronchial provocation test is useful in the diagnosis of atypical asthma in children.</p>
Assuntos
Adolescente , Criança , Feminino , Humanos , Masculino , Asma , Testes de Provocação Brônquica , PulmãoRESUMO
Objective To compare the effect of three types of lipid emulsions on the IL-1βand IL-6 expressions in acute lung injury induced by lipopolysaccharide (LPS) in rats. Methods One hundred young SD rats were divided into control,LPS,ω-6,ω-9 andω-3 group. Age 29 days, the control group were intravenously injected with saline,ω-6 group injected lipid emu-sion (C14-24),ω-9 group injected long chain fat emusion,ω-3 group injected fish oil fat emusion. Then the control group fol-lowed by intratracheal instillation of saline, and the reamining four groups were sprayed with LPS. Pathologic changes in lung tissue section were observed. The expression levels of IL-1βmRNA and IL-6 mRNA were determined by RT-PCR,and the con-centrations of IL-1βand IL-6 in bronchoalveolar lavage fluid (BALF) were measured by enzyme-linked immune-specific assay. Results Infiltration and bleeding were observed in lung tissue under light microscopy in ALI rats. The lung indexes and patho-logical scores of ALI model groups were significantly higher than those of control group (P0.005) of the expressions of IL-1βand IL-6 mRNA betweenω-9 andω-3 group. Conclusions ω-6 PUFAs can accentuate inflammation by up-regulating the levels of IL-1βand IL-6 whileω-9 PUFAs andω-3 PUFAs can relieve inflammation by down-regulating the levels of IL-1βand IL-6.
RESUMO
Objective To explore the effect of endotoxemia on triiodothyronine (T3) and thyroxine (T4),and the level and activity of iodothyronine deiodinase type 1 and type 3 mRNA.Methods Sixteen mice were randomly divided into control group and lipopolysaccharide (LPS) group,with 8 mice in each group.The mouse model of endotoxemia was replicated in the LPS group.In the both groups,blood samples from femoral week were collected to assay T3 and T4 levels,and the livers were sampled to inspect D1 and D3 mRNA levels and activities.Serum T3 and T4 levels were assayed with radioimmunoassay,D1 and D3 mRNA levels in liver were detected with real-time polymerase chain reaction,the activity of D1 and D3 in liver were measured by using ion-exchange chromatography combined with immunoassay.The data were statistically analyzed by SPSS 13.0 software.Results Statistical differences of T3,D1 and D3 mRNA levels and activities between the 2 groups were found (all P ＜0.01),while,there was no statistic difference in the statuses of T4 (P ＞ 0.05).Conclusions It is possible that euthyroid sick syndromes happens in endotoxemia episodes,and the changes of D1 and D3 mRNA levels and activities are the possible influencing factors.
RESUMO
<p><b>OBJECTIVE</b>To investigate the impact of intrauterine infection induced by LPS injection on long-term brain development of premature rats.</p><p><b>METHODS</b>Eighteen day-gestation pregnant rats were randomly assigned to a control group receiving an intraperitoneal injection of normal saline, and two infection groups that were intraperitoneally injected with 0.3 mg/kg or 0.6 mg/kg LPS. Twenty-four hours after injection, 7 pregnant rats of each group were sacrificed. The pathological changes of the placenta after hematoxylin and eosin staining were observed under a light microscope. The neural cell apoptosis of fetal brains was examined by the TUNEL assay. The remained pregnant rats were induced to labour before 21 gestation days. The long-term brain development of premature rats was tested with the Y type electric maze on postnatal day 42.</p><p><b>RESULTS</b>Obvious pathological changes were observed in the placenta in the infection groups. The apoptotic neural cells in the fetal brain increased in the infection groups compared with that in the control group (32.41+/-5.36 in the 0.3 mg/kg infection group and 66.41+/-7.61 in the 0.6 mg/kg infection group vs 8.00+/-0.36 in the control group; P<0.01). The number of trials to criterion in the Y type maze test in the infection groups was much more than that in the control group [117.8+/-8.7 (0.3 mg/kg infection group) and 194.4+/-13.7 (0.6 mg/kg infection group) vs 56.8+/-3.7 (control group); P<0.01]. The number of correct reactions in memory retaining in the infection groups was lower than that in the control group (0.62+/-0.09 in the 0.3 mg/kg infection group and 0.37+/-0.09 in the 0.6 mg/kg infection group vs 0.92+/-0.06 in the control group; P<0.05).</p><p><b>CONCLUSIONS</b>Intrauterine infection can cause fetal rats' neural cell apoptosis and affect adversely long-term brain development of neonatal rats.</p>
Assuntos
Animais , Feminino , Gravidez , Ratos , Apoptose , Infecções Bacterianas , Barreira Hematoencefálica , Encéfalo , Patologia , Aprendizagem em Labirinto , Neurônios , Patologia , Complicações Infecciosas na Gravidez , Ratos Wistar , Útero , MicrobiologiaRESUMO
<p><b>OBJECTIVE</b>To investigate CD4+ CD25+ regulatory T cell frequencies in the peripheral blood of poor or non-responsiveness to Hepatitis B vaccine, and try to understand the relationship between CD4+ CD25+ regulatory T cell and poor or non-responsiveness to Hepatitis B vaccine.</p><p><b>METHODS</b>Flow cytometric analysis was employed for CD4+ CD25+ regulatory T cell frequencies in the peripheral blood of 25 cases of non-responsiveness, 30 cases of poor-responsiveness, and collected 20 cases of responsiveness as control.</p><p><b>RESULTS</b>CD4+ CD25+ regulatory T cell frequencies of responsiveness was (4.32 +/- 1.21)%, poor-responsiveness was (7.01 +/- 1.06)% and non-responsiveness was (12.75 +/- 2.01)%. It was found that non and poor-responsiveness showed a high percentage of CD4+ CD25+ regulatory T cell as compared with responsiveness (t = 8.426, t = 3.289, P<0.01).</p><p><b>CONCLUSION</b>The poor and non-responsiveness should be related with the increase of CD4+ CD25+ regulatory T cell and this might be considered as an important cause of poor and non-responsiveness.</p>
Assuntos
Adolescente , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Sangue , Alergia e Imunologia , Antígenos CD4 , Alergia e Imunologia , Citometria de Fluxo , Vacinas contra Hepatite B , Alergia e Imunologia , Subunidade alfa de Receptor de Interleucina-2 , Alergia e Imunologia , Subpopulações de Linfócitos T , Alergia e Imunologia , Linfócitos T Reguladores , Alergia e Imunologia , MetabolismoRESUMO
Objective To explore the puberty and height development in childern with congenital adrenal hyperplasia(CAH) due to 21-hydroxylase deficiency(21-OHD) with the simple virilizing(SV) form.Methods Patients of SV 21-OHD,diagnosed and treated in Tianjin Children's Hospital from Jan.1970 to Jan.2008,were treated with cortisone acetate or hydrocortisone after diagnosed,and blood investigations were performed as part of monitoring,and dosages were adjusted accordingly to obtain normal growth velocity and slow bone age(BA) development.Gonadotropin-releasing hormone agonist(Gn-RHa) was given after the appearance of central precocious puberty(CPP).Forty-one patients(18 females,23 males) had achieved final height before Dec.31st 2008,and their puberty and height development were analyzed in this longitudinal study by contrast the ages and statures of obtaining final height(FH),chronological age(CA) and BA of G2/B2 stage,duration from G2/B2 stage to obtain FH and stature development of different gender during this period and the influences of compliancy on the ages and statures of obtaining FH were contrasted.Results With regarding to the age of testicular volume ≥4 mL,78.26% boys were before 9 years old.As far as the age of breast development was concerned,38.89% girls were before 8 year old and 66.67% menarche occurred before 10 year old.The differences between the duration and stature development of the period from the state of G2/B2 to skeletal maturation of different gender were significant (Pa
RESUMO
Objective To analyze rate of and reasons for not undertaking insulin pump therapy in children with type 1 diabetes(T1DM) and explore potential countermeasures.Methods Two hundred and seventy-eight persons of T1DM,diagnosed in Tianjin Children′s Hospital from Jan.2000 to Dec.2008,were assigned to fill in a questionnaire on T1DM and insulin pump therapy.Reasons for different compliances were analyzed and strategies were explored.Results Eighty-five point twenty-five percent of the children(237 persons) undertook the therapy and 14.75%(41 persons) refused.In the group of younger than 3 years,58.33%(21 persons)accepted the therapy,while in the group of older than 3 years,89.26%(216 persons) undertook it,consequently there was statistically significant difference(?2=23.83,P
RESUMO
<p><b>OBJECTIVE</b>To design and manufacture a reliable spine phantom used in the cross calibration and quality control of dual X-ray absorptiometry (DXA).</p><p><b>METHODS</b>A hydroxyapatite quality control phantom was designed and made through three steps: solid water, bone phantom material and integration, then evaluated the phantom on four different types of DXA machines made by LUNAR company.</p><p><b>RESULTS</b>Among the four DXA densitometers, the Expert fan beam densitometer had the biggest accuracy errors of bone mineral density (BMD), bone mineral content(BMC) and area values while the other three one narrow fan beam (Prodigy) and two pencil beam densitometers-had small errors. Of the three indexes measured by all the machines, BMD error was the smallest (-15.4%-11.5%), with the Prodigy's BMD was most outstanding. BMD errors at the higher density ends were small, tend to be positive values while the errors at the lower ends were big, tend to be negative. In cross calibration, giving consideration to the differences between the both ends, it is better to use the regression equation to correct. The base line of precision error derived by scanning the phantom once a day for consecutive 25 days was better than that derived by scanning the phantom 25 times consecutively on the same day. As to precision error, the coefficient of variation (CV) of scanning-25 times-a day was the smallest (0.0043) while the CV of 12 adults measurements was the biggest (0.0078).</p><p><b>CONCLUSIONS</b>This phantom can be used in the quality control and cross-calibration of different types of DXA machines.</p>