RESUMO
OBJECTIVE: Electroconvulsive therapy (ECT) is commonly used to treat patients with treatment-resistant depression. We aimed to investigate whether combining an antidepressant agent with ECT might enhance therapeutic efficacy and prevent early relapse. METHOD: During the acute ECT phase, patients (N = 97) with treatment-resistant depression were randomized to receive ECT plus agomelatine 50 mg/day (n = 48) or ECT plus placebo (n = 49). Symptom severity measures, including the 17-item Hamilton Depression Rating Scale (HAMD-17) and other scales, functional impairment, quality of life, neuropsychological tests, adverse events and attitudes toward ECT, were assessed regularly. Remission was defined as a HAMD-17 score ≤7. If patients achieved post-ECT remission, they were prescribed agomelatine 50 mg/day and participated in a 12-week follow-up trial. HAMD-17 was rated at 4-week intervals. Relapse was defined as a HAMD-17 score ≥14, or rehospitalization for a psychiatric reason. RESULTS: The two treatment groups were comparable at (i) baseline variables; (ii) score changes in all symptom measures, functional impairment, quality of life, and neuropsychological tests; (iii) frequency of adverse events and attitudes toward ECT; and (iv) post-ECT response/remission rates. There were no statistically significant differences following ECT in relapse rates and time to relapse between these two groups. CONCLUSION: Adding agomelatine to ECT yielded comparable response/remission rates to ECT without agomelatine in the acute ECT phase. Starting agomelatine in combination with ECT did not seem to be more efficacious in preventing relapse than starting agomelatine after the acute ECT course. More research is needed to guide clinical recommendations.
Assuntos
Acetamidas/uso terapêutico , Transtorno Depressivo Resistente a Tratamento/terapia , Eletroconvulsoterapia , Acetamidas/administração & dosagem , Adulto , Idoso , Terapia Combinada , Transtorno Depressivo Resistente a Tratamento/tratamento farmacológico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Escalas de Graduação Psiquiátrica , Qualidade de Vida , Resultado do Tratamento , Adulto JovemRESUMO
Objective: To investigate the efficacy and feasibility of laparoscopic resection for gastric gastrointestinal stromal tumor (GIST) in unfavorable location by comparing with open surgery. Methods: Clinicopathological and follow-up data of 176 patients with gastric GIST in unfavorable location admitted at Union Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2005 to December 2017 were analyzed retrospectively. There were 94 males and 82 females, aging of (57.4±12.7) years (range: 20-90 years). Of the 176 patients, 64 underwent laparoscopic surgery (laparoscopic group) and 112 underwent open surgery (open group). One-to-one propensity score matching (PSM) was performed to balance the covariance between laparoscopic group and open surgery group. Before PSM, the differences between the two group in tumor size and modified National Institutes of Health risk classification were significant. After PSM, there were 63 pairs (63 cases in laparoscopic group and 63 cases in open group) and the baseline characteristics were comparable between the two groups(P>0.05). The difference of short-term outcome between the two groups were compared using t test, χ(2) test or Wilcoxon rank-sum test. The survival curve was established by Kaplan-Meier method and the Log-rank test was used to compare the survival of the two groups. Results: The operation time of laparoscopic group was shorter ((141.6±100.6) minutes vs. (100.4±67.7) minutes, t=2.681, P=0.008), the hospitalization cost was higher ((5.2±0.7) ten thousand yuan vs. (4.2±0.8) ten thousand yuan, t=7.357, P=0.000) than open group. The time to first flatus ((49.1±8.2) hours vs. (71.0±4.6) hours, t=-18.482, P=0.000) and preoperative hospital stay ((10.3±6.0) days vs. (14.8±7.6) days, t=-3.717, P=0.000) was shorter in laparoscopic group. With a median follow-up time of 44 months (range: 10 to 154 months), the 1-, 3-, 5-year relapse-free survival rates in the laparoscopic group and open group were 98.3%, 92.1%, 92.1% and 100%, 86.3%, 83.2%, respectively (χ(2)=0.696, P=0.404). The 1-, 3-, 5-year overall survival rates in the laparoscopic group and open group were 96.6%, 94.7%, 94.7% and 100%, 91.1%, 81.4%, respectively (χ(2)=0.366, P=0.545). Conclusions: In experienced medical centers, laparoscopic resection is safe and feasible for GIST in unfavorable location. Compared to open surgery, laparoscopic resection achieves a faster postoperative recovery and a similar long-term prognosis.
Assuntos
Gastrectomia/métodos , Tumores do Estroma Gastrointestinal/cirurgia , Neoplasias Gástricas/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Convalescença , Estudos de Viabilidade , Feminino , Seguimentos , Gastrectomia/mortalidade , Tumores do Estroma Gastrointestinal/mortalidade , Humanos , Laparoscopia , Masculino , Pessoa de Meia-Idade , Pontuação de Propensão , Estudos Retrospectivos , Medição de Risco , Neoplasias Gástricas/mortalidade , Análise de Sobrevida , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND: Cognition impairment is well known in patients with chronic kidney disease (CKD). The relationship between brain structure and cognitive performance in CKD patients is still under investigation. The study aimed to quantitatively assess the relationship between brain structure and cognitive performance in patients with CKD. METHODS: We recruited 39 patients with CKD and 39 age- and sex-matched control participants from a tertiary medical center. All participants underwent 3-T MRI scan neuropsychological assessments, and renal function tests. FreeSurfer software was used for imaging processing and analysis, including measurement of cortical thickness and gray matter (GM) and white matter volumes. RESULTS: Compared with control subjects (73.1±7.5 years old), patients with CKD (76.4±8.4 years old) had significantly lower scores on the Mini-Mental State Examination, and forward digit span test (P<.01). Patients with CKD had smaller cerebral GM volume, hippocampus, and decreased cortical thickness (P<.01) relative to the control group. Estimated glomerular filtration rate (eGFR) was correlated with cognitive performance, cortical thickness, GM volume, and hippocampal volume (P<.001). Linear regression analysis revealed that eGFR and GM volume were independently negatively associated with cognitive performance (P<.001), while eGFR and age were negatively associated with cortical thinning and GM volume after controlling for confounding factors. CONCLUSIONS: This study demonstrated that impaired kidney function is associated not only with poor cognitive performance, but also with small cerebral GM volume and reduced cortical thickness.
Assuntos
Disfunção Cognitiva/diagnóstico por imagem , Hipocampo/diagnóstico por imagem , Insuficiência Renal Crônica/complicações , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Disfunção Cognitiva/complicações , Disfunção Cognitiva/fisiopatologia , Feminino , Taxa de Filtração Glomerular , Substância Cinzenta/diagnóstico por imagem , Hipocampo/patologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Insuficiência Renal Crônica/diagnóstico por imagem , Insuficiência Renal Crônica/fisiopatologia , Substância Branca/diagnóstico por imagemRESUMO
Growing evidence has revealed that microRNA are central elements in milk fat synthesis in mammary epithelial cells. A negative regulator of adipocyte fat synthesis, miR-27a has been reported to be involved in the regulation of milk fat synthesis in goat mammary epithelial cells; however, the regulatory role of miR-27a in bovine milk fat synthesis remains unclear. In the present study, primary bovine mammary epithelial cells (BMEC) were harvested from mid-lactation cows and cultured in Dulbecco's modified Eagle's medium/F-12 medium with 10% fetal bovine serum, 5 µg/mL of insulin, 1 µg/mL of hydrocortisone, 2 µg/mL of prolactin, 1 µg/mL of progesterone, 100 U/mL of penicillin, and 100 µg/mL of streptomycin. We found that the overexpression of miR-27a significantly suppressed lipid droplet formation and decreased the cellular triacylglycerol (TAG) levels, whereas inhibition of miR-27a resulted in a greater lipid droplet formation and TAG accumulation in BMEC. Meanwhile, overexpression of miR-27a inhibited mRNA expression of peroxisome proliferator-activated receptor gamma (PPARG), CCAAT/enhancer-binding protein beta (C/EBPß), perilipin 2 (PLIN2), and fatty acid binding protein 3 (FABP3), whereas miR-27a downregulation increased PPARG, C/EBPß, FABP3, and CCAAT enhancer binding protein alpha (C/EBPα) mRNA expression. Furthermore, Western blot analysis revealed the protein level of PPARG in miR-27a mimic and inhibitor transfection groups to be consistent with the mRNA expression response. Moreover, luciferase reporter assays verified that PPARG was the direct target of miR-27a. In summary, these results indicate that miR-27a has the ability to control TAG synthesis in BMEC via targeting PPARG, suggesting that miR-27a could potentially be used to improve beneficial milk components in dairy cows.
Assuntos
Glândulas Mamárias Animais/metabolismo , PPAR gama/metabolismo , Animais , Bovinos , Células Epiteliais/metabolismo , Feminino , Lipogênese/genética , MicroRNAs/genética , Triglicerídeos/metabolismoRESUMO
Objective: To evaluate the efficacy of endotracheal tube for drug injection in postoperative ICU patients. Methods: A total of 60 ICU patients who were given mechanical ventilation after surgical treatment were enrolled in this study from January 2015 to August 2016 at our hospital. All the patients were divided into the observation group (30 cases) and the control group (30 cases). In the observation group, the patients were treated with the endotracheal tube for surface anesthesia by injecting 2% lidocaine into the trachea, and patients in the control group were treated with saline instead of lidocaine. Patients' tolerance to endotracheal tube, cardiovascular system adverse reactions, the frequency and dosage of sedative and analgesic drug within 12 h mechanical ventilation post operation were analyzed and compared between the two groups. Results: The occurrence rate of cough, hypertension and tachycardia in the observation group were(0.6±0.3), (0.8±0.3)and(1.3±0.6), respectively, which were significantly lower than the control group (5.9±2.1), (6.0±1.9)and(4.9±1.8), the differences were statistically significant (P<0.05). In addition, the frequency of sedative drug was (0.8±0.3), with a dosage of midazolam(1.2±0.3)mg. While in the control group, the frequency of sedative drugs was (5.1±1.9), with a dosage of midazolam (9.9±3.2) mg. The frequency and dosage of sedative drug administration in the observation group were significantly lower than those in the control group, the difference was significant difference (P<0.05). Conclusions: The use of endotracheal tube for drug injection can improve the tolerance of ICU patients to endotracheal tube, reduce the dosage of sedative drugs, and reduce the adverse cardiovascular reactions.
Assuntos
Intubação Intratraqueal , Humanos , Hipnóticos e Sedativos , Lidocaína , Período Pós-Operatório , Respiração ArtificialRESUMO
WHAT IS KNOWN AND OBJECTIVE: Dosage adjustment of 500 mg ertapenem daily is recommended for patients with advanced kidney disease. 30% of ertapenem is cleared by a session of haemodialysis (HD). However, because most published carbapenems studies have excluded patients on dialysis, little is known about the dosing of ertapenem to avoid central nervous system (CNS) toxicity in regular HD patients. We report of four patients who developed CNS toxicity in such patients. CASE SUMMARY: The 4 HD patients developed unexplained CNS toxicity manifested as seizures, hallucination and cognitive dysfunction after receiving 3-7 consecutive recommended doses of ertapenem. Their symptoms of CNS toxicity were completely resolved within 8 days after discontinuation of ertapenem. In one of our presented cases, we demonstrated the very high level of plasma ertapenem accumulating with several consecutive doses. Cognitive function gradually recovered in line with a corresponding decline in blood level of ertapenem. WHAT IS NEW AND CONCLUSIONS: This is the first report of ertapenem-associated CNS toxicity in patients on regular HD and utilizing the plasma ertapenem concentration to demonstrate the causal relationship. The recommended dosage of 500 mg ertapenem daily may be still too high in regular HD patients, especially in Asians, owing to their relatively small body size. An increased awareness of ertapenem-associated CNS toxicity would avoid unnecessary examinations, hospitalization, and potentially catastrophic complications.
Assuntos
Antibacterianos/efeitos adversos , Antibacterianos/farmacocinética , Doenças do Sistema Nervoso Central/induzido quimicamente , Diálise Renal , beta-Lactamas/efeitos adversos , beta-Lactamas/farmacocinética , Idoso , Povo Asiático , Relação Dose-Resposta a Droga , Ertapenem , Feminino , Humanos , Masculino , Insuficiência RenalRESUMO
The melanocortin 3 receptor (MC3R) gene, which belongs to the rhodopsin-like family A of the G protein-coupled receptor family, plays a crucial role in feed efficiency and energy homeostasis. The aim of this study was to examine associations between bovine MC3R gene polymorphisms and body measurement traits (BMTs) and meat quality traits (MQTs). We identified three synonymous mutations (T429C, T537C, and T663C) in exon 1 of the MC3R gene in Chinese Qinchuan beef cattle (N = 271) by sequencing. D' and r(2) values revealed that these three SNPs were in strong linkage disequilibrium (LD) (r(2) > 0.33); the T429C and T537C SNPs were in complete LD (D' = 1 and r(2) = 1). Association analyses revealed that the SNPs were significantly associated with BMTs and MQTs in Qinchuan cattle. Individuals with the wild homozygotic genotypes g.TTTT and g.TT had significantly higher values of chest depth, heart girth, back fat thickness, intramuscular fat content, and loin muscle area than the mutant heterozygotic genotypes g.TCTC and g.TC. These results suggest that the MC3R gene affects MQTs in Qinchuan cattle, and that it may be a good candidate gene for marker-assisted selection.
Assuntos
Tamanho Corporal/genética , Bovinos/genética , Carne , Polimorfismo de Nucleotídeo Único , Receptor Tipo 3 de Melanocortina/genética , Animais , Bovinos/crescimento & desenvolvimento , Desequilíbrio de LigaçãoRESUMO
Y chromosomal microdeletions at the azoospermia factor locus and chromosome abnormalities have been implicated as the major causes of idiopathic male infertility. A marker chromosome is a structurally abnormal chromosome in which no part can be identified by cytogenetics. In this study, to identify the origin of the marker chromosomes and to perform a genetic diagnosis of patients with azoospermia, two-color fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) techniques were carried out. The marker chromosomes for the two patients with azoospermia originated in the Y chromosome; it was ascertained that the karyotype of both patients was 46,X, ish del(Y)(q11)(DYZ3+, DXZ1-). The combination of two-color FISH and PCR techniques is an important method for the identification of the origin of marker chromosomes. Thus, genetic counseling and a clear genetic diagnosis of patients with azoospermia before intracytoplasmic sperm injection or other clinical managements are important.
Assuntos
Azoospermia/diagnóstico , Aberrações Cromossômicas , Hibridização in Situ Fluorescente , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/diagnóstico , Azoospermia/genética , Azoospermia/patologia , Deleção Cromossômica , Cromossomos Humanos Y/genética , Humanos , Infertilidade Masculina , Cariótipo , Masculino , Reação em Cadeia da Polimerase , Aberrações dos Cromossomos Sexuais , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/genética , Transtornos do Cromossomo Sexual no Desenvolvimento Sexual/patologiaRESUMO
Retinitis pigmentosa (RP) is a retinal degenerative disorder that often causes complete blindness. Mutations of more than 50 genes have been identified as associated with RP, including the CACNA1F gene. In a recent study, by employing next-generation sequencing, we identified a novel mutation in the CACNA1F gene. In this study, we used the amplification refractory mutation system (ARMS) and identified a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by RP. This study actually confirms this novel mutation, and establishes the ARMS technique for the detection of mutations in RP.
Assuntos
Pareamento Incorreto de Bases/genética , Canais de Cálcio Tipo L/genética , Primers do DNA/metabolismo , Mutação de Sentido Incorreto/genética , Reação em Cadeia da Polimerase/métodos , Sequência de Bases , Heterozigoto , Humanos , Dados de Sequência Molecular , Mutação Puntual/genética , Reprodutibilidade dos Testes , Análise de Sequência de DNARESUMO
Non-invasive prenatal diagnosis is used to detect the genetic material of the fetus by isolating the cell-free fetal DNA (cffDNA) from maternal peripheral blood. In order to establish an isolation method for cffDNA from maternal peripheral blood in Chinese women, the cffDNA was acquired with a two-step centrifugation using a QlAamp DNA Blood mini kit. The SRY gene of plasma DNA was amplified by polymerase chain reaction (PCR). Real-time quantitative PCR was used to measure the concentration of cffDNA in maternal peripheral blood in different pregnant women. The results of the SRY gene amplification of plasma DNA from pregnant women was the same as that of the amniocyte DNA. The average concentration of cffDNA in maternal peripheral blood of pregnant women in different gestational stages was 0.98 ng/mL (0.26-1.49 ng/mL), 1.43 ng/mL (0.46- 2.34 ng/mL), and 1.95 ng/mL (0.65-6.81 ng/mL) from early, middle, and late gestational stages, respectively. The mean of cffDNA from total DNA in plasma in different stages of gestation was 22.28% (9.86-27.81%). The lowest concentration of DNA amplified by nested-PCR in our research was 10-4-10-3 ng/µL. The isolation method for cffDNA from maternal peripheral blood was successfully established and further research into its applications will be conducted.
Assuntos
DNA/sangue , Feto , Diagnóstico Pré-Natal/métodos , Fatores de Transcrição SOXB1/sangue , Adulto , Cromossomos Humanos Y/genética , DNA/isolamento & purificação , Feminino , Idade Gestacional , Humanos , Gravidez , Fatores de Transcrição SOXB1/genéticaRESUMO
Follicle-stimulating hormone receptor (FSHR), which mediates the functioning of FSH, plays a central role in reproduction. We investigated bovine FSHR gene polymorphisms and analyzed their relationships with pregnancy rates after embryo transfer and with hormone concentrations on the day of embryo transfer. One reported SNP of FSHR, G-278A, located in the 5'-upstream region, was analyzed and three genotypes (GG, GA and AA) were detected in 132 Luxi cattle recipients. Statistical analysis revealed that recipients with the GG genotype had significantly higher estrogen levels on the day of embryo transfer than did GA and AA genotypes. There were no significant differences in pregnancy rates among genotypes, after embryo transfer. We conclude that variation at these loci of the FSHR gene has no significant effect on pregnancy rates in Luxi cattle.
Assuntos
Transferência Embrionária , Estrogênios/sangue , Receptores do FSH/genética , Reprodução/genética , Animais , Bovinos , Feminino , Genótipo , Polimorfismo de Nucleotídeo Único , Gravidez , Taxa de Gravidez , Receptores do FSH/sangueRESUMO
Inhibin is a major regulator of secretion of follicle-stimulating hormone, which is involved in follicular development and regulation of steroidogenesis in females. The objectives of this study were to detect polymorphisms of the bovine inhibin beta-A subunit (INHßA) gene and to evaluate its associations with superovulatory responses in 171 Chinese Holstein cows treated for superovulation. Polymerase chain reaction-restricted fragment length polymorphism revealed a C>T transition determining the StyI polymorphism at position 7639 in intron I of the bovine INHßA gene, and three genotypes (CC, CT, and TT) were detected. The frequencies of the three genotypes showed a tendency for CT > TT > CC, and this polymorphism was in Hardy-Weinberg equilibrium. Statistical analysis revealed no significant differences of least square means for superovulation traits among the three genotypes (P > 0.05). These results demonstrate, for the first time, that the detected loci of the INHßA gene have no significant effects on superovulation performance in Chinese Holstein cows.
Assuntos
Bovinos/genética , Subunidades beta de Inibinas/genética , Polimorfismo Genético , Superovulação/genética , Animais , Estudos de Casos e Controles , Bovinos/fisiologia , FemininoRESUMO
The aim of this study is to use Y-chromosome gene polymorphism method to investigate regional differences in genetic variation and population evolution history of the Chinese native cattle breeds. Six Y-chromosome short tandem repeat (Y-STR) loci (UMN0929, UMN0108, UMN0920, INRA124, UMN2404, and UMN0103) were analyzed using 1016 healthy and heterogenetic males and 90 females of 9 native cattle breeds (Qinchuan, Jinnan, Zaosheng, Luxi, Nanyang, Jiaxian, Dabieshan, Yanbian, and Menggu) in China. Allele frequency and gene diversity were calculated for the various populations. The results indicated that Y-STRs in the 6 loci have polymorphisms and genetic diversity in Chinese cattle populations. The genetic diversity analysis revealed that the Chinese cattle populations have a close genetic relationship. The analysis of INRA124, UMN2404, and UMN0103 loci revealed the original history of Chinese cattle because of which cattle belonging to Bos taurus or Bos indicus could be determined. Interestingly, a declining zebu introgression was displayed from South to North and from East to West in the Chinese geographical distribution, which implied that cattle population from various regions of China had been subjected to somewhat different evolutionary history. This conclusion supported other evidences such as earlier archaeological, historical research, and blood protein polymorphism analysis.
Assuntos
Cruzamento , Bovinos/genética , Variação Genética , Repetições de Microssatélites/genética , Cromossomo Y/genética , Animais , China , Feminino , Frequência do Gene , Geografia , Haplótipos , Masculino , FilogeniaRESUMO
Silent information regulator 2 (SIRT2), a member of the Sirtuin family of class III nicotinamide adenine dinucleotide-dependent protein deacetylases, plays an important role in senescence, metabolism, and apoptosis. This study was conducted to detect potential polymorphisms of the bovine SIRT2 gene and explore their relationships with meat quality and body measurement traits (BMTs) in Qinchuan cattle. Four single nucleotide polymorphisms (A7445G, C7711T, G17937A, and G20937A) in the fourth intron, fourth exon, ninth exon, and twelfth exon of the SIRT2 gene, respectively, were identified according to the sequencing results of 520 individuals of a Qinchuan cattle population. The genotypic distributions of both A7445G and G20937A were in agreement with the Hardy-Weinberg equilibrium (P < 0.05), whereas the other two mutations were not (0.05 < P < 0.01), based on the X(2) test. Association analysis indicated that the four loci were significantly correlated with several BMTs and meat quality traits. When in combination, the H1H1 (AA-CC-GG-CC) diplotypes showed better BMT and meat quality traits than those by other combinations. Collectively, the results show that SIRT2 is involved in the regulation of the growth and meat quality of cattle, suggesting that the SIRT2 gene may be a candidate gene for marker-assisted selection in the development of future breeding programs for Qinchuan cattle.
Assuntos
Composição Corporal/genética , Bovinos/genética , Polimorfismo de Nucleotídeo Único , Sirtuína 2/genética , Alelos , Animais , Sequência de Bases , Bovinos/crescimento & desenvolvimento , Éxons/genética , Frequência do Gene , Genótipo , Haplótipos , Íntrons/genética , Desequilíbrio de Ligação , Carne/normas , Fenótipo , Análise de Sequência de DNARESUMO
This study aimed to analyze the epidemiologic patterns of pediatric critically-ill patients presenting to the emergency department (ED) and the etiologies of intensive care unit (ICU) admission of different age groups.This retrospective study of all children aged less than 18 years presenting with critical illnesses to the ED was conducted in a tertiary medical center in Taiwan from 2003 to 2007. All patients transferred to the ICU from the ED were included without distinction. Demographic data of critically-ill children admitted to the ED and ICU were analyzed. Etiologies of the ICU admissions were analyzed by various age groups.There were 2978 critically-ill children admitted to the ICU from the ED. In 120 pediatric patients with out-of-hospital cardiac arrest, cases with pulseless electrical activity or ventricular fibrillation had higher successful CPR rates than patients with asystole (both p<0.05). In patients admitted to ICUs, complications from the perinatal period, respiratory system diseases, accidental injuries and poisoning were the predominant etiologies respectively in young children (42.5%), school-aged children (38.5%), and adolescents (47.9%). Moreover, the most common of which was respiratory distress syndrome in neonates followed by bacterial pneumonia and status epilepticus.Epidemiologic analysis may provide primary clinicians to identify significant differences in admission rates based on different etiologies of various age groups.
Assuntos
Estado Terminal/epidemiologia , Serviço Hospitalar de Emergência/estatística & dados numéricos , Unidades de Terapia Intensiva Pediátrica/estatística & dados numéricos , Centros Médicos Acadêmicos/estatística & dados numéricos , Adolescente , Causalidade , Criança , Pré-Escolar , Estudos Transversais , Serviços Médicos de Emergência/estatística & dados numéricos , Feminino , Humanos , Lactente , Recém-Nascido , Masculino , Admissão do Paciente/estatística & dados numéricos , Ressuscitação/estatística & dados numéricos , Taiwan , Ferimentos e Lesões/epidemiologiaRESUMO
Members of the transforming growth factor-ß (TGFß) superfamily are critical regulators of germ cell development that act as extracellular ligands of the signal transduction pathways regulating proliferation, differentiation, apoptosis, and other aspects of cell behavior. Growth differentiation factor 9 (GDF9) is a member of the TGFß superfamily that plays a critical role in ovarian follicular development and ovulation rate in females; however, its role in the testis has not been well elucidated. Therefore, in this study we investigated the effects of GDF9 mutations on the quality of fresh and frozen semen of Holstein bulls. Two reported single nucleotide polymorphisms of GDF9, A485TA and A625C, were analyzed in 129 Holstein bulls. Analysis of variance revealed that the A485T polymorphism had significant effects on the acrosome integrity rate (P < 0.05), whereas the A625T polymorphism was significantly associated with sperm concentration (P < 0.05). In addition, a significant additive effect on sperm concentration was detected for the A485T polymorphism (P < 0.05), whereas the polymorphisms A485TA and A625C had significant dominant effects on acrosome integrity rate and sperm motility in frozen semen, respectively (P < 0.05). This study is the first to show a significant association of GDF9 with sperm quality traits, and the results implied that GDF9 is involved in the initiation or maintenance of spermatogenesis; however, further verification is needed.
Assuntos
Acrossomo/fisiologia , Fator 9 de Diferenciação de Crescimento/genética , Polimorfismo de Nucleotídeo Único , Motilidade dos Espermatozoides/genética , Animais , Animais Endogâmicos , Bovinos , Masculino , Contagem de EspermatozoidesRESUMO
Growth differentiation factor 9 (GDF9) belongs to the transforming growth factor ß superfamily and plays a critical role in ovarian follicular development and ovulation rate. We examined the bovine GDF9 gene polymorphism and analyzed its association with superovulation performance. Based on the sequence of the bovine GDF9 gene, six pairs of primers were designed to detect single nucleotide polymorphisms of two exons and intron 1 of GDF9 using polymerase chain reaction-single-strand conformation polymorphism. Only the products amplified by primer 3-1 displayed polymorphisms. Sequencing revealed two mutations of A485T and A625T in intron 1 of the GDF9 gene in 171 Chinese Holstein cows treated for superovulation. Association analysis showed that these two single nucleotide polymorphisms of A485T and A625T had significant effects on the number of transferable embryos (P < 0.05), and the A625T polymorphism was significantly associated with the total number of ova (P < 0.05). In addition, a significant additive effect on the number of transferable embryos was detected in polymorphisms of A485T (P < 0.05). This study is the first to identify two polymorphisms in bovine GDF9 and describe their correlation with superovulation traits in Chinese Holstein cows.
Assuntos
Bovinos/genética , Fator 9 de Diferenciação de Crescimento/genética , Superovulação/genética , Animais , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Íntrons , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Different molecular aberrations can be discriminated into certain prognostic subgroups in cytogenetically normal acute myeloid leukemia (CN-AML) patients but their impact on allogeneic hematopoietic stem cell transplantation (allo-HSCT) remains controversial and studies from Asian populations are lacking. Forty-two adult non-M3 AML patients receiving allo-HSCT from 2002 to 2009 in southern Taiwan were retrospectively reviewed for survey, 23 (54.7%) of whom were CN-AML. NPM1, FLT3-ITD, and CEBPA were analyzed. After a median follow-up of 104 weeks (range, 8 to 384), patients in the good risk group (harboring either NPM1 or CEBPA mutation without concurrent FLT3-ITD) showed a borderline worse overall survival (OS) compared with the intermediate/poor risk group (P = 0.08). Interestingly, a poorer OS was found in patients with the CEBPA mutation (P = 0.003) but not the NPM1 mutation (P = 0.96). No OS difference was found between patients with or without FLT3-ITD (P = 0.15). In patients receiving allo-HSCT at first remission, there was no significant OS benefit in the good risk group (P = 0.33). In patients receiving allo-HSCT beyond first remission, disease status played a major role (P = 0.006), irrespective of molecular aberrations. Allo-HSCT in good risk patients should be carefully evaluated in Taiwanese, especially in patients with the CEBPA mutation. Conversely, allo-HSCT should be considered in first remission in patients with an intermediate/poor risk, where it may overcome the adverse impact of FLT3-ITD. Disease status remained a main issue in patients receiving allo-HSCT beyond first remission.
Assuntos
Biomarcadores Tumorais/genética , Proteínas Estimuladoras de Ligação a CCAAT/genética , Transplante de Células-Tronco Hematopoéticas , Leucemia Mieloide Aguda/diagnóstico , Proteínas Nucleares/genética , Tirosina Quinase 3 Semelhante a fms/genética , Adulto , Feminino , Humanos , Leucemia Mieloide Aguda/genética , Leucemia Mieloide Aguda/cirurgia , Masculino , Pessoa de Meia-Idade , Mutação , Nucleofosmina , Prognóstico , Resultado do TratamentoRESUMO
We report a 57-year-old woman with concurrent tubulointerstitial nephritis and uveitis syndrome (TINU) and Fanconi's syndrome. She presented with sudden onset of bilateral ocular pain, blurred vision, acute renal failure, glucosuria and proteinuria. Slit lamp examination revealed acute bilateral anterior uveitis. Tubulointerstitial nephritis was confirmed by kidney biopsy. Laboratory examination revealed normoglycemic glucosuria, proteinuria, normal anion-gap metabolic acidosis, phosphaturia, urinary uric acid wasting and kaliuresis leading to hypokalemia. Her vision and renal function improved gradually after systemic steroid therapy. There have been rare reports of TINU syndrome which had features of Fanconi's syndrome. The prevalence of TINU syndrome may be underestimated, and its association with Fanconi's syndrome requires further investigation.
Assuntos
Síndrome de Fanconi/complicações , Biópsia , Técnicas de Diagnóstico Oftalmológico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/tratamento farmacológico , Feminino , Humanos , Rim/patologia , Rim/fisiopatologia , Pessoa de Meia-Idade , Nefrite Intersticial/complicações , Nefrite Intersticial/diagnóstico , Nefrite Intersticial/tratamento farmacológico , Nefrite Intersticial/fisiopatologia , Recuperação de Função Fisiológica , Esteroides/uso terapêutico , Resultado do Tratamento , Uveíte/complicações , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Uveíte/fisiopatologia , Visão OcularRESUMO
This study was designed to identify sex-specific antibodies (SSAb) in rabbit antisera against bovine sex-sorted sperm, and capture sex-specific proteins of bovine X- or Y- proteins by SSAb. The rabbit antisera against bovine X- or Y-sperm were first produced by a series of immunological approaches, and further purified through immuno-neutralization with excess sex-sorted Y- or X-sperm, respectively, to remove non-sex specific antibodies and enrich sex-specific antibodies. After removal of non-sex specific antibodies, the purified rabbit sera with enriched sex-specific antibodies were screened for sex-specific antibodies by immunofluorescence staining and flow cytometry. The results showed that 3.0, 2.2, and 4.2% of unsorted sperm, sex-sorted X-sperm, and sex-sorted Y-sperm were recognized by the purified rabbit antisera against Y-sperm, respectively, whereas 29.2, 19.7, and 3.9% of unsorted sperm, sex-sorted X-sperm, and sex-sorted Y-sperm were recognized by the purified rabbit antisera against X-sperm. These results suggested that the purified rabbit antisera against X-sperm contained SSAb that preferentially bound to sex-sorted X-sperm. Subsequently, the purified rabbit antisera against X- or Y-sperm were used to immunoprecipitate sex-specific proteins in bovine sperm proteins, and a 30-kDa protein was specifically captured by the rabbit antisera against X-sperm. In conclusion, our results implied that this 30-kDa protein might be a sex-specific protein in bovine X-sperm, which has the potential to be used in immunological procedures for sexing sperm.