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OBJECTIVE: To analyze the coding sequence of GJB2 gene in six pedigrees with nonsyndromic hearing loss in order to find deafness-causing mutations in the GJB2 gene, and to explore the inherent pattern of deafness-causing mutations in the GJB2 gene. METHODS: Genomic DNA was extracted from peripheral blood for the probands and their family members. Coding sequence of the GJB2 gene was amplified by polymerase chain reaction, sequence variations were determined by DNA sequencing. Amplified fragments with overlapping peaks on sequencing chromatogram were sequenced by TA cloning in order to determine whether the mutations originated from the same allele. RESULTS: Mutations in the GJB2 gene were found in 4 out of the 6 pedigrees with nonsyndromic hearing loss. Four types of mutations were detected in the GJB2 gene, which were 235delC, 299-300delAT, 79G>A+341A>G, and 109G>A. Compound heterozygous polymorphisms 79G>A and 341A>G, and mutations 109G>A and 235delC had deafness-causing effects. CONCLUSION: Heterogeneous mutations of the GJB2 gene are frequently seen in patients with nonsyndromic hearing loss. Sometimes, polymorphisms may cause deafness when they are combined. Environmental factors and other genes may contribute to hearing loss caused by the GJB2 gene mutations.
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Conexinas/genética , Análisis Mutacional de ADN , Pérdida Auditiva/genética , Secuencia de Bases , Conexina 26 , Femenino , Humanos , Patrón de Herencia/genética , Masculino , LinajeRESUMEN
Ageing often results in insulin resistance (IR) and chronic inflammation, and adipose is one of the tissues in which inflammation and IR occur earliest during this process. The present study investigated the effect and underlying mechanisms of ursolic acid (UA) on adipose IR and inflammation in ageing rats. Specific pathogen-free male Sprague-Dawley rats were randomly divided into 4 groups: i) Young normal (young); ii) untreated ageing (aged); and groups supplemented with UA either iii) low-UA 10 mg/kg (UA-L) or iv) high-50 mg/kg (UA-H). Animals in the UA-treated groups received 10 or 50 mg/kg UA (suspended in 5% Gum Arabic solution). The rats in the corresponding aged group and young groups received vehicle (5% Gum Arabic) alone. All rats were intragastrically treated once daily by oral gavage for 7 weeks. The day before the experiment terminated, overnight fasting blood (~700 µl) was collected and plasma was prepared to measure biochemical indicators; western blotting was performed to analyze the expression of insulin signaling proteins [(insulin receptor substrate 1 (IRS-1), phosphorylated (p)-IRS-1, PI3K, glucose transporter 4 (GLUT4), Akt and p-Akt)] and inflammatory factors (NF-κB, IL-6 and IL-1ß) in the epididymis white adipose tissue (eWAT). The results revealed that treatment with UA-H decreased eWAT weight, the ratio of eWAT weight/body weight, fasted insulin and triglyceride levels, the homeostasis model assessment of insulin resistance and adipose tissue insulin resistance index in ageing rats, indicating the amelioration of systemic and adipose tissue IR, compared with the aged group. Mechanistically, UA-H administration upregulated p-protein kinase B, the ratio of p-Akt to protein kinase B and total and cellular membrane GLUT4 protein levels in eWAT of ageing rats. Conversely, UA inhibited the increase in NF-κB expression and proinflammatory cytokines IL-6 and IL-1ß. However, these alterations were not observed in the rats of the aged group. Taken together, the findings of the present study indicated that UA may ameliorate adipose IR, which is associated with activation of the Akt-GLUT4 signaling pathway and inhibition of inflammation in ageing rats. These data provide a basis for the development of effective and safe drugs or functional substances, such as UA, for the prevention and treatment of metabolic diseases.
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OBJECTIVE: To investigate the effects of multimodal analgesia on analgesia and sedation during emergence of general anesthesia for cleft lip and/or palate surgery pediatric patients. METHODS: Fifty-four pediatric patients with ASA I and II cleft lip and/or palate, aged 2-7, undergoing prosthesis were randomly allocated into 2 groups: control group (Group C, n=28) inhaling nitrous oxide/oxygen (50%:50%) and sevoflurane(5%) for general anesthesia, and multimodal group (Group M, n=26), injected intravenously with fentanyl and atracurium in addition to inhalation of nitrous oxide/oxygen (50%:50%) and sevoflurane (5%). Ventilation was controlled with PCV modal to maintain end-tidal CO2 to 35-45 mmHg. Local anesthesia at the surgical site was facilitated by the surgeon before the beginning of surgery. After intubation, rectal paracetamol was used for Group M (120 mg for 2-4 year-olds and 325 mg for 5-7 year-olds) and fentanyl 0.5 microg/kg was injected for postoperative analgesia 10 min before the end of surgery. An observer who was blinded to the protocol recorded the time from the discontinuation of sevoflurane and nitrous oxide to tracheal extubation, accessed the sedation and pain scale, recorded the time ready for discharge from post-anesthesia care unit (PACU) and the incidence of adverse effects. RESULTS: The time ready for discharge from PACU of Group M was (25+/-4) min, significantly shorter than that of Group C [(32+/-3) min, t=7.426, P<0.01]. The analgesia satisfaction rate of Group M was 69.2% (18/26), significantly higher than that of Group C [25.0%, 7/28, P<0.05]. The severe pain rate of Group M was 7.7%, significantly lower than that of Group C (35.7%, F=5.333, P=0.021). The agitation rate of Group M was 11.5%, significantly lower than that of Group C (39.3%, F=4.571, P=0.033). CONCLUSION: Multimodal analgesic regimen of infiltration of local anesthetic at surgical site and rectal paracetamol and intravenous fentanyl provides sufficient analgesia, minimizes the incidence of agitation after general anesthesia in cleft lip and/or palate surgery for children, increases the speed of referring patients in PACU, and ensures the safety of the postanaesthetic patients.
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Analgesia/métodos , Anestesia General/métodos , Labio Leporino/cirugía , Fisura del Paladar/cirugía , Periodo de Recuperación de la Anestesia , Niño , Preescolar , Femenino , Humanos , Masculino , Procedimientos de Cirugía PlásticaRESUMEN
AIM: To determine the possible predisposing factors of bezoar-induced small bowel obstruction (BI-SBO) and to discuss the diagnostic value of multi-slice spiral computed tomography, particularly contrast-enhanced scanning, in this condition. METHODS: A total of 35 BI-SBO cases treated at our hospital from January 2007 to December 2013 were retrospectively analysed. Complete clinical and computed tomography (CT) data of the patients were available and confirmed by surgery. SBO was clinically diagnosed on the basis of clinical manifestations. Of the 35 patients, 18 underwent abdominal and pelvic CT planar scanning with GE 64-slice spiral CT and 17 underwent abdominal and pelvic CT planar scanning with GE 64-slice spiral CT combined with contrast-enhanced examination. Original images were processed using a GE ADW4.3 workstation to obtain MPR, CPR, MIP and CTA images. The images of all patients were evaluated by two abdominal imaging experts. The main analytical contents of planar scanning included intestinal bezoar conditions, changes in the intestinal wall and changes in peri-intestinal conditions. Vascular hyperaemia and arterial blood supply conditions at a specific obstruction site and the distal end of the obstruction site were evaluated through contrast-enhanced examination. RESULTS: The proportion of males to females among the 35 cases was 1:1.69 (13:22); median age was 63.3 years. The following cases were observed: 29 (82.8%) cases occurred in autumn and winter and showed a history of consuming high amounts of persimmon and hawthorn; 19 (54.3%) cases revealed a history of gastrointestinal surgery; 19 exhibited incomplete dentition, with missing partial or whole posterior teeth; 26 suffered from obstruction at the ileum. A total of 51 bezoars were found in these patients, of whom 16 (45.7%) had multiple bezoars. CT planar scanning of bezoars showed lumps with mottled gas inside the intestinal cavity. Furthermore, 9 cases of bezoars had envelopes and 11 cases were accompanied with thickening of the distal wall of the obstructed bowel. Scanning of 17 cases was enhanced; the results revealed that the mesenteric blood vessels at the obstruction site and the proximal site were dilated, and a total of 7 cases were accompanied with distal vascular dilation and intestinal wall thickening. CONCLUSION: BI-SBO exhibits regional and seasonal characteristics. CT planar and contrast-enhanced scanning can be applied to diagnose and observe vascular conditions in obstructed zones.
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Bezoares/diagnóstico por imagen , Obstrucción Intestinal/diagnóstico por imagen , Intestino Delgado/diagnóstico por imagen , Tomografía Computarizada Multidetector , Anciano , Anciano de 80 o más Años , Bezoares/complicaciones , Bezoares/cirugía , China , Femenino , Humanos , Obstrucción Intestinal/etiología , Obstrucción Intestinal/cirugía , Intestino Delgado/cirugía , Masculino , Persona de Mediana Edad , Valor Predictivo de las Pruebas , Estudios Retrospectivos , Factores de RiesgoRESUMEN
A cyclic dipeptide often has the multiple configurations and the abundant conformations. The density functional theory (DFT) method is used to search the preferred conformation of the most probable configuration for cordycedipeptide A isolated from the culture liquid of Cordyceps sinensis. The time-dependent DFT approach is exploited to describe the profile of electronic circular dichroism (CD). The calculated results show that the most probable configuration is 3S6R7S, whose preferred conformation has a negative optical rotation and a positive lowest energy electronic CD band.
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Biología Computacional/métodos , Cordyceps/química , Dipéptidos/química , Técnicas Microbiológicas/métodos , Péptidos Cíclicos/química , Células Cultivadas , Dicroismo Circular , Modelos Moleculares , Conformación Molecular , Estructura Molecular , Rotación Óptica , Proteínas de Plantas/química , Espectrofotometría Infrarroja , EstereoisomerismoRESUMEN
To explore the application value of cerebellar diffusion tensor imaging (DTI) in patients after heat stroke (HS). Eleven patients after HS with a score of 3-9 in Glasgow Coma Scale (GCS) and seven age-matched healthy volunteers were selected to undergo MR examinations during the same hot summer. The MR studies including DTI were performed with a 1.5 T scanner. Fractional anisotropy (FA) values of normal-appearing cerebellar white and gray matter were measured and the differences between the two groups were evaluated with Mann-Whitney U test. The FA value of normal-appearing cerebellar white matter in patients after HS was found to be decreased compared to normal control subjects (652.5 ± 86.1 vs 769.5 ± 58.4, p = 0.025). The FA value of normal-appearing cerebellar gray matter in patients after HS was found to be decreased compared to normal control subjects (158.8 ± 27.9 vs 187.5 ± 15.8, p = 0.040). Neural damage of the cerebellum induced by HS may be effectively evaluated by DTI with the decrease of FA value in normal-appearing cerebellum structures.
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Cerebelo/patología , Imagen de Difusión Tensora , Golpe de Calor/patología , Adulto , Anciano , Anciano de 80 o más Años , Anisotropía , Estudios de Casos y Controles , Femenino , Escala de Coma de Glasgow , Humanos , Procesamiento de Imagen Asistido por Computador , Masculino , Persona de Mediana Edad , Estadísticas no ParamétricasRESUMEN
OBJECTIVE: To investigate the relationship between waist circumference and blood pressure (BP) to determine if waist circumference was an indicator of BP in preschool children. METHODS: Body weight, height, waist circumference (WC), hip circumference, and blood pressure of 939 3-6-year-old preschool children were collected. RESULTS: Systolic blood pressure (SBP) and diastolic blood pressure (DBP) in obese children were significantly higher than that in normal weight children in both sexes (p<0.001). Overweight children had significantly higher SBP and DBP than normal weight boys (p<0.01). Age- and sex-adjusted Body mass index (BMI) correlated significantly with SBP and DBP. In children aged 3-6 years, age-, sex-and BMI-adjusted waist circumference correlated significantly with SBP, but not with DBP. Receiver operating characteristic (ROC) curves showed a significant ability of BMI, WC and waist-to-height ratio (WtHr) to discriminate high blood pressure in children of both sexes. Multiple linear stepwise regression analysis using SBP as the dependent variable showed that BMI and WC were significant independent factors that influence high blood pressure adjusted for age, WtHr and waist-to-hip circumference ratio (WHr) in boys. When using DBP as the dependent variable, BMI was the only significant independent factor that influenced high blood pressure adjusted for age, WtHr and WHr, in both sex-es. CONCLUSION: Waist circumference was independently associated with high blood pressure in boys aged 3-6 years. In addition to BMI, increased waist circumference was found to be an indicator of high blood pressure in the preschool children, especially in boys.
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Hipertensión/epidemiología , Obesidad , Relación Cintura-Cadera , Presión Sanguínea , Índice de Masa Corporal , Niño , Preescolar , China/epidemiología , Estudios Transversales , Femenino , Humanos , Hipertensión/fisiopatología , Masculino , PrevalenciaRESUMEN
OBJECTIVE: To identify thyroid peroxidase (TPO) gene mutations in 35 patients with congenital hypothyroidism. METHOD: Genomic DNA was isolated from peripheral blood samples of 35 patients with congenital hypothyroidism. All of the 17 exons and flanking introns of TPO gene were amplified by PCR, then the PCR products were sequenced bi-directionally and were analyzed by restriction endonucleases. RESULT: One patient had compound heterozygous mutations c.961A>G/c.2422delT, one was c.2268insT/c.1477G>A, and three was homozygous mutation c.2268insT. The TPO gene mutation c.961A>G [p. Thr321Ala] was one novel mutation. CONCLUSION: High frequency mutation in TPO gene was detected in patients with congenital hypothyroidism.