RESUMEN
OBJECTIVE: Cisplatin-based chemotherapy is widely used for the treatment of oral squamous cell carcinoma (OSCC), but drug resistance and decreased sensitivity often occur during the treatment, greatly weakening its therapeutic effect. Caveolin-1 (CAV1), a protein related to ferroptosis, is involved in regulating the resistance and sensitivity of various tumor chemotherapies. This study aims to investigate whether CAV1 can regulate the sensitivity of OSCC to cisplatin through ferroptosis. METHODS: Through bioinformatics analysis, we analyzed the expression of CAV1 in OSCC and its impact on prognosis analyzed the relationship between CAV1 and tumor immune infiltration, and verified the expression of CAV1 in OSCC through immunohistochemistry experiments. We silenced the expression of CAV1 in OSCC cells through lentiviral transfection and evaluated the cell migration and invasion abilities through wound healing and Transwell assays, respectively. CCK8 assay was used to assess the sensitivity of cells to cisplatin, and ferroptosis-related biochemical marker changes were measured. Western blot was performed to detect the expression of ferroptosis-related proteins. RESULTS: The results revealed a high expression of CAV1 in OSCC, and its high expression predicted poor prognosis in OSCC. CAV1 is associated with drug metabolism pathways in OSCC, and its expression affects the infiltration levels of various immune cells in tumors. Further experiments indicated that CAV1 can inhibit ferroptosis and cisplatin sensitivity in cancer cells, promoting their migration and invasion. CONCLUSION: CAV1 promotes the progression of OSCC and can affect the sensitivity of cisplatin by regulating cellular ferroptosis.
RESUMEN
Studies have suggested that endoplasmic reticulum stress (ERS) is involved in neurological dysfunction and that electroacupuncture (EA) attenuates neuropathic pain (NP) via undefined pathways. However, the role of ERS in the anterior cingulate cortex (ACC) in NP and the effect of EA on ERS in the ACC have not yet been investigated. In this study, an NP model was established by chronic constriction injury (CCI) of the left sciatic nerve in rats, and mechanical and cold tests were used to evaluate behavioral hyperalgesia. The protein expression and distribution were evaluated using western blotting and immunofluorescence. The results showed that glucose-regulated protein 78 (BIP) and inositol-requiring enzyme 1α (IRE-1α) were co-localized in neurons in the ACC. After CCI, BIP, IRE-1α, and phosphorylation of IRE-1α were upregulated in the ACC. Intra-ACC administration of 4-PBA and Kira-6 attenuated pain hypersensitivity and downregulated phosphorylation of IRE-1α, while intraperitoneal injection of 4-PBA attenuated hyperalgesia and inhibited the activation of P38 and JNK in ACC. In contrast, ERS activation by intraperitoneal injection of tunicamycin induced behavioral hyperalgesia in naive rats. Furthermore, EA attenuated pain hypersensitivity and inhibited the CCI-induced overexpression of BIP and pIRE-1α. Taken together, these results demonstrate that EA attenuates NP by suppressing BIP- and IRE-1α-mediated ERS in the ACC. Our study presents novel evidence that ERS in the ACC is implicated in the development of NP and provides insights into the molecular mechanisms involved in the analgesic effect of EA.
Asunto(s)
Modelos Animales de Enfermedad , Electroacupuntura , Estrés del Retículo Endoplásmico , Giro del Cíngulo , Neuralgia , Ratas Sprague-Dawley , Animales , Electroacupuntura/métodos , Giro del Cíngulo/metabolismo , Neuralgia/terapia , Masculino , Estrés del Retículo Endoplásmico/fisiología , Ratas , Western Blotting , Proteínas de Choque Térmico/metabolismo , Proteínas Serina-Treonina Quinasas/metabolismo , Hiperalgesia/terapia , Chaperón BiP del Retículo EndoplásmicoRESUMEN
OBJECTIVE: To evaluate the occurrence of aortic dilatation and its associated predictors with coarctation of the aorta (CoA) in infants using multi-slice computed tomography (MSCT). METHODS: The clinical data of 47 infantile patients with CoA diagnosed by MSCT and 28 infantile patients with simple ventricular septal defect were analyzed retrospectively. Aortic diameters were measured at six different levels, and aortic sizes were compared by z score. The coarctation site-diaphragm ratio was used to describe the degree of narrowing. Relevant clinical data were collated and analyzed. RESULTS: The dilation rate and z score of the ascending aorta in the severe CoA group were significantly higher than those in the mild CoA group (11 [52.38%] vs. 21 [80.77%], P=0.038 and 2.00 ± 0.48 vs. 2.36 ± 0.43, P=0.010). Pearson's correlation analysis found that the z score of the ascending aorta was negatively correlated with the coarctation site-diaphragm ratio value (r=-0.410, P=0.004). A logistic retrospective analysis found that an increased degree of coarctation was an independent predictor of aortic dilatation (adjusted odds ratio 0.002; 95% confidence interval 0.00-0.819; P=0.043). The z score of the ascending aorta in the severe CoA group was significantly higher than that in the ventricular septal defect group (P<0.05). CONCLUSION: Most infants with CoA can also have significant dilatation of the ascending aorta, and the degree of this dilatation is related to the degree of coarctation. Assessment of aortic diameter and related malformations by MSCT can predict the risk of aortic dilatation in infants with CoA.
Asunto(s)
Coartación Aórtica , Defectos del Tabique Interventricular , Lactante , Humanos , Angiografía por Tomografía Computarizada , Dilatación , Estudios Retrospectivos , Coartación Aórtica/diagnóstico por imagenRESUMEN
ABSTRACT Objective: To evaluate the occurrence of aortic dilatation and its associated predictors with coarctation of the aorta (CoA) in infants using multi-slice computed tomography (MSCT). Methods: The clinical data of 47 infantile patients with CoA diagnosed by MSCT and 28 infantile patients with simple ventricular septal defect were analyzed retrospectively. Aortic diameters were measured at six different levels, and aortic sizes were compared by z score. The coarctation site-diaphragm ratio was used to describe the degree of narrowing. Relevant clinical data were collated and analyzed. Results: The dilation rate and z score of the ascending aorta in the severe CoA group were significantly higher than those in the mild CoA group (11 [52.38%] vs. 21 [80.77%], P=0.038 and 2.00 ± 0.48 vs. 2.36 ± 0.43, P=0.010). Pearson's correlation analysis found that the z score of the ascending aorta was negatively correlated with the coarctation site-diaphragm ratio value (r=-0.410, P=0.004). A logistic retrospective analysis found that an increased degree of coarctation was an independent predictor of aortic dilatation (adjusted odds ratio 0.002; 95% confidence interval 0.00-0.819; P=0.043). The z score of the ascending aorta in the severe CoA group was significantly higher than that in the ventricular septal defect group (P<0.05). Conclusion: Most infants with CoA can also have significant dilatation of the ascending aorta, and the degree of this dilatation is related to the degree of coarctation. Assessment of aortic diameter and related malformations by MSCT can predict the risk of aortic dilatation in infants with CoA.
RESUMEN
OBJECTIVE: To investigate the accuracy of aortic dimensions measured by Revolution™ computed tomography (CT) in infants with complex coarctation of the aorta (CoA) and to further analyze the utility of the degree of CoA in predicting the risk of prolonged postoperative cardiac intensive care unit stay. METHODS: A total of 30 infants with complex CoA who underwent surgical correction from January 2020 to July 2022 were retrospectively enrolled. General demographic data, preoperative imaging, and perioperative outcomes were collected. Univariate and multivariate analyses were performed to investigate predictors of prolonged postoperative cardiac intensive care unit stay, and the reliability of the CT measurements was assessed by the intraclass correlation coefficient. RESULTS: All infants were divided into a mild or severe CoA group. The duration of mechanical ventilation and cardiac intensive care unit stay in the mild CoA group were significantly lower than those in the severe CoA group. After multivariate analysis, we found that the degree of CoA and age at surgery were significant predictors of prolonged postoperative cardiac intensive care unit stay. The intraclass correlation coefficient between CT measurements and intraoperative measurements was between 0.937 and 0.975, and the measurement results had good reliability. CONCLUSION: CT angiography can provide a comprehensive and accurate preoperative evaluation of aortic dimensions measured in infants with complex CoA. The degree of CoA is an independent risk factor for prolonged postoperative cardiac intensive care unit stay in infants with complex CoA.
Asunto(s)
Coartación Aórtica , Angiografía por Tomografía Computarizada , Humanos , Lactante , Coartación Aórtica/diagnóstico por imagen , Coartación Aórtica/cirugía , Estudios Retrospectivos , Reproducibilidad de los Resultados , Factores de Riesgo , Unidades de Cuidados Intensivos , Tiempo de InternaciónRESUMEN
This technical report describes a novel workflow for complete denture fabrication designed to abbreviate the necessary steps for dental prostheses delivery by using a 3-appointment protocol in which preliminary impressions are made in the first session together with the registration of maxillary lip support, occlusal plane, and reference lines for tooth arrangement. A trial denture is fabricated with conventional or computer-aided design and computer-aided manufacturing procedures and is evaluated in the second appointment for esthetics, the definitive impression, and the maxillomandibular relationship record to provide precise references for definitive denture fabrication.
Asunto(s)
Dentadura Completa , Estética Dental , Flujo de Trabajo , Oclusión Dental , Diseño Asistido por Computadora , Técnica de Impresión DentalRESUMEN
PURPOSE: To investigate surface characteristics (roughness and contact angle), anti-biofilm formation, and mechanical properties (mini-flexural strength) of computer-aided design and computer-aided manufacturing (CAD-CAM) polymethylmethacrylate (PMMA) polymer, and three-dimensional (3D) printed resin for denture base fabrication compared with conventional heat polymerized denture base resins. MATERIALS AND METHODS: A total of 60 discs and 40 rectangular specimens were fabricated from one CAD-CAM (AvaDent), one 3D printed (Cosmos Denture), and two conventional heat polymerized (Lucitone 199 and VipiWave) materials for denture base fabrication. Roughness was determined by Ra value; the contact angle was measured by the sessile drop method. The biofilm formation inhibition behavior was analyzed through Candida albicans adhesion, while mini-flexural strength test was done using a three-point bending test. The data were analyzed using descriptive and analytical statistics (α = 0.05). RESULTS: The CAD-CAM PMMA group showed the lowest C. albicans adhesion (log CFU/mL: 3.74 ± 0.57) and highest mini-flexural strength mean (114.96 ± 16.23 MPa). 3D printed specimens presented the highest surface roughness (Ra: 0.317 ± 0.151 µm) and lowest mini-flexural strength values (57.23 ± 9.07 MPa). However, there was no statistical difference between CAD-CAM PMMA and conventional groups for roughness, contact angle, and mini-flexural strength. CONCLUSIONS: CAD-CAM milled materials present surface and mechanical properties similar to conventional resins and show improved behavior in preventing C. albicans adhesion. Nevertheless, 3D printed resins present decreased mini-flexural strength.
Asunto(s)
Bases para Dentadura , Polimetil Metacrilato , Ensayo de Materiales , Propiedades de Superficie , Diseño Asistido por Computadora , Impresión TridimensionalRESUMEN
ABSTRACT Objective: To investigate the accuracy of aortic dimensions measured by Revolution™ computed tomography (CT) in infants with complex coarctation of the aorta (CoA) and to further analyze the utility of the degree of CoA in predicting the risk of prolonged postoperative cardiac intensive care unit stay. Methods: A total of 30 infants with complex CoA who underwent surgical correction from January 2020 to July 2022 were retrospectively enrolled. General demographic data, preoperative imaging, and perioperative outcomes were collected. Univariate and multivariate analyses were performed to investigate predictors of prolonged postoperative cardiac intensive care unit stay, and the reliability of the CT measurements was assessed by the intraclass correlation coefficient. Results: All infants were divided into a mild or severe CoA group. The duration of mechanical ventilation and cardiac intensive care unit stay in the mild CoA group were significantly lower than those in the severe CoA group. After multivariate analysis, we found that the degree of CoA and age at surgery were significant predictors of prolonged postoperative cardiac intensive care unit stay. The intraclass correlation coefficient between CT measurements and intraoperative measurements was between 0.937 and 0.975, and the measurement results had good reliability. Conclusion: CT angiography can provide a comprehensive and accurate preoperative evaluation of aortic dimensions measured in infants with complex CoA. The degree of CoA is an independent risk factor for prolonged postoperative cardiac intensive care unit stay in infants with complex CoA.
RESUMEN
STATEMENT OF PROBLEM: Although desktop stereolithography (SLA) 3D printers and photopolymerizing resin have been used increasingly in dentistry to manufacture surgical templates, studies investigating their clinical application are lacking. PURPOSE: The purpose of this in vitro study was to evaluate the effects of build angle on the accuracy, printing time, and material consumption of additively manufactured surgical templates made with a desktop SLA 3D printer and photopolymerizing resin material. MATERIAL AND METHODS: Fifty surgical templates were fabricated from 1 master digital design file using a desktop SLA 3D printer and photopolymerizing resin material at 5 different build angles (0, 30, 45, 60, and 90 degrees) (n=10). All surgical templates were digitized and superimposed with the master design file using best-fit alignment in the surface matching software program. Dimensional differences between the sample files and the original master design files were compared, and the mean deviations were measured in the root mean square (measured in mm, representing accuracy). The printing time and resin consumption for each specimen were recorded based on the information in the 3D printing preparation software program. ANOVA and the Fisher least significant difference (LSD) test were used to estimate the effects of build angles on the root mean square, printing time, and resin consumption (α=.05 for all tests). RESULTS: The groups 0 degree (0.048 ±0.007 mm) and 45 degrees (0.053 ±0.012 mm) had statistically significant lower root mean square values when compared with those of groups 30 degrees (0.067 ±0.009 mm), 60 degrees (0.079 ±0.016 mm), and 90 degrees (0.097 ±0.017 mm) (P<.001 for all comparisons, except P=.003 for groups 30 degrees versus 45 degrees). The group 90 degrees had statistically significant higher root mean square values than all other groups (P<.001 for all comparisons, except P=.010 when compared with the group 60 degrees). For the printing time, the group 0 degree required significantly less printing time than all other groups (hour:minute, 1:26 ±0:03, P<.001 for all comparisons). The group 90 degrees required significantly more printing time than all other groups (2:52 ±0:06, P<.001 for all comparisons). For resin consumption, the groups 0 degree (11.58 ±0.21 mL), 30 degrees (11.32 ±0.16 mL), and 45 degrees (11.23 ±0.16 mL) consumed similar amounts of resin. However, there was statistical significance between groups 0 degree and 45 degrees (P=.016). The group 90 degrees consumed the significantly least amount of resin (9.86 ±0.40 mL, P<.001 for all comparisons). CONCLUSIONS: With a desktop SLA 3D printer, the 0-degree and 45-degree build angles produced the most accurate surgical template, and the 90-degree build angle produced the least accurate surgical template. The 0-degree build angle required the shortest printing time but consumed the most resin in the printing process. The 90-degree build angle required the longest printing time but consumed the least amount of resin in the printing process.
Asunto(s)
Diseño Asistido por Computadora , Estereolitografía , Impresión Tridimensional , Programas InformáticosRESUMEN
INTRODUCTION AND AIM: Accurately predicting the prognosis of individual patient is crucial in the management of ACLF. We aimed to establish a specific prognostic model for HBV-related ACLF patients treated with nucleoside analog (NA). MATERIAL AND METHODS: We prospectively collected 205 ACLF cases diagnosed according to the APASL criteria. A dynamic prognostic model based on APASL criteria was established and validated. To demonstrate that the model is also applicable to those within EASL criteria, we divided the patients into two groups: met APASL criteria only (group A, n = 123); met both APASL and EASL criteria (group B, n = 82). Its prognostic accuracy was also compared with chronic liver failure-sequential organ failure assessment (CLIF-SOFA) score in group B. RESULTS: The model is: R = 0.94 x Bilirubin + 0.53 x evolution of Bilirubin - 0.45 x PT-A - 0.22 x evolution in PT-A -0.1 x PLT + 10 x anti-HBe. The area under receiver operating characteristic curve (AUC) of the model for predicting 90-day mortality was 0.86, which was significantly higher than that of model for end stage liver disease(MELD), MELD-Na, CLIF-SOFA, ΔMELD (7d) and ΔMELD-Na (7d), ΔCLIF- SOFA(7d) (all p < 0.01). The AUC of our model in the validation group was 0.79 which was superior to MELD (0.45) CLIF-SOFA (0.53) score in group B patients (p < 0.01). CONCLUSION: In conclusion, the model was superior to the conventional methods in predicting the outcomes of patients with HBV related ACLF treated with NA. It is the first description of a novel prognostic model using consecutive data in patients with HBV-induced acute-on-chronic liver failure (ACLF) treated by nucleoside analogs.
Asunto(s)
Insuficiencia Hepática Crónica Agudizada/tratamiento farmacológico , Antivirales/uso terapéutico , Técnicas de Apoyo para la Decisión , Virus de la Hepatitis B/efectos de los fármacos , Hepatitis B Crónica/tratamiento farmacológico , Modelos Biológicos , Nucleósidos/uso terapéutico , Insuficiencia Hepática Crónica Agudizada/diagnóstico , Insuficiencia Hepática Crónica Agudizada/mortalidad , Insuficiencia Hepática Crónica Agudizada/virología , Adulto , Antivirales/efectos adversos , Bilirrubina/sangre , Biomarcadores/sangre , China , Progresión de la Enfermedad , Femenino , Anticuerpos contra la Hepatitis B/sangre , Antígenos e de la Hepatitis B/inmunología , Virus de la Hepatitis B/inmunología , Virus de la Hepatitis B/patogenicidad , Hepatitis B Crónica/diagnóstico , Hepatitis B Crónica/mortalidad , Hepatitis B Crónica/virología , Humanos , Masculino , Persona de Mediana Edad , Nucleósidos/efectos adversos , Puntuaciones en la Disfunción de Órganos , Valor Predictivo de las Pruebas , Estudios Prospectivos , Protrombina/metabolismo , Reproducibilidad de los Resultados , Factores de Tiempo , Resultado del TratamientoRESUMEN
OBJECTIVE: To assess the independent or comorbid effect of conduct and mood disorders on the risk of suicide. STUDY DESIGN: The Taiwan National Health Insurance Research Database was used to derive data for 3711 adolescents aged 12-17 years with conduct disorder and 14 844 age- and sex-matched controls between 2001 and 2009. The participants were followed up to the end of 2011, and those who attempted suicide during the follow-up period were identified. RESULTS: Adolescents with conduct disorder had a higher incidence of suicide (0.9% vs 0.1%; P <.001) and attempted suicide at a younger age (17.38 ± 2.04 vs 20.52 ± 1.70 years of age) than did the controls. The Cox proportional hazards regression model, after adjustment for demographic data and psychiatric comorbidities, determined that conduct disorder was an independent risk factor for subsequent suicide attempts (hazard ratio, 5.17; 95% CI, 2.29-11.70). The sensitivity after those with other psychiatric comorbidities were excluded revealed a consistent finding (hazard ratio, 10.32; 95% CI, 3.71-28.71). DISCUSSION: Adolescents with conduct disorder had an increased risk of suicide attempts over the next decade. Future studies are required to clarify the underlying pathophysiology and elucidate whether prompt intervention for conduct disorder could reduce this risk.
Asunto(s)
Trastorno de la Conducta/complicaciones , Trastornos del Humor/complicaciones , Intento de Suicidio/estadística & datos numéricos , Adolescente , Niño , Femenino , Estudios de Seguimiento , Humanos , Estudios Longitudinales , Masculino , Medición de RiesgoRESUMEN
OBJECTIVE: To determine the potential influence of relative age on the diagnosis and treatment of attention-deficit hyperactivity disorder (ADHD), especially in reference to an Asian country. STUDY DESIGN: A total of 378â881 subjects aged 4-17 years during the study period (September 1, 1997 to August 31, 2011) were enrolled in our study from the Taiwan National Health Insurance Research Database. Logistic regression analysis was used to examine the likelihood of receiving ADHD diagnosis and treatment for those who were born in August (the youngest) compared with those who were born in September (the oldest). RESULTS: Both boys and girls born in August had a higher risk of being diagnosed with ADHD (OR 1.63, 95% CI 1.45-1.84; OR 1.71, 95% CI 1.36-2.15) and receiving ADHD medication (OR 1.76, 95% CI 1.53-2.02; OR 1.65, 95% CI 1.26-2.18) than those born in September. Sensitivity tests conducted over different periods revealed consistent findings. CONCLUSIONS: Relative age, as an indicator of neurocognitive maturity, is crucial in the risk of being diagnosed with ADHD and receiving ADHD medication among children and adolescents. Our findings emphasize the importance of considering the age of a child within a grade when diagnosing ADHD and prescribing medication for treating ADHD.
Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad/diagnóstico , Adolescente , Factores de Edad , Trastorno por Déficit de Atención con Hiperactividad/terapia , Niño , Preescolar , Bases de Datos Factuales , Femenino , Humanos , Modelos Logísticos , Masculino , Riesgo , TaiwánRESUMEN
OBJECTIVE: To determine the association between sugar-sweetened beverage (SSB) consumption with biomarkers of insulin resistance (IR) and investigate whether/how this relates to obesity and serum uric acid in adolescents. STUDY DESIGN: Adolescents (n = 1454, aged 12-16 years) were assessed in a study conducted to monitor Multilevel Risk Profiles for Adolescent Metabolic Syndrome in Taiwan. Detailed information about demographics, diet, physical, anthropometric, and clinical variables was collected. An original homeostatic model assessment of IR (HOMA1-IR), updated nonlinear homeostatic model assessment of IR (HOMA2-IR) model, and several IR markers were measured. RESULTS: Adolescents who consumed a greater amount of SSBs were more likely to have elevated fasting serum insulin, HOMA1-IR, and HOMA2-IR (P for trends, ≤.028). Compared with SSB nondrinkers, those with >350 mL/d intake of heavy high-fructose corn syrup-containing SSBs had a 0.52 and 0.30 higher multivariate-adjusted HOMA1-IR and HOMA2-IR, respectively. Waist circumference and serum uric acid were correspondingly found to explain 25.4% and 23.6%, as well as 23.2% and 20.6%, of the increases in the 2 IR markers. Both the elevations of HOMA1-IR and HOMA2-IR for high-fructose corn syrup-rich SSB intake were strengthened among obese adolescents (P for interaction, ≤.033). CONCLUSIONS: Fructose-rich SSB intake is associated with elevated levels of IR, and this relationship may be partially mediated by central adiposity and serum uric acid. Obesity may modify the effect of this type of SSB consumption in intensifying the elevation of IR in adolescents.
Asunto(s)
Bebidas , Fructosa/efectos adversos , Resistencia a la Insulina , Obesidad Abdominal/fisiopatología , Ácido Úrico/sangre , Adolescente , Antropometría , Biomarcadores/sangre , Niño , Estudios Transversales , Conducta Alimentaria , Femenino , Homeostasis , Humanos , Masculino , Actividad Motora , Análisis Multivariante , Obesidad Abdominal/sangre , Obesidad Infantil/sangre , Obesidad Infantil/fisiopatología , Encuestas y Cuestionarios , Taiwán , Circunferencia de la CinturaRESUMEN
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing.
RESUMEN
Cleidocranial dysplasia (CCD) is an autosomal dominant human skeletal disorder comprising hypoplastic clavicles, wide cranial sutures, supernumerary teeth, short stature, and other skeletal abnormalities. It is known that mutations in the human RUNX2 gene mapped at 6p21 are responsible for CCD. We analyzed the mutation patterns of the RUNX2 gene by direct sequencing in six Taiwanese index cases with typical CCD. One of the patients was a familial case and the others were sporadic cases. Sequencing identified four mutations. Three were caused by single nucleotide substitutions, which created a nonsense (p.R391X), two were missense mutations (p.R190W, p.R225Q), and the forth was a novel mutation (c.1119delC), a one-base deletion. Real time quantitative PCR adapted to determine copy numbers of the promoter, all exons and the 3'UTR region of the RUNX2 gene detected the deletion of a single allele in a sporadic case. The results extend the spectrum of RUNX2 mutations in CCD patients and indicate that complete deletions of the RUNX2 gene should be considered in those CCD patients lacking a point mutation detected by direct sequencing.
Asunto(s)
Humanos , Deleción Cromosómica , Displasia Cleidocraneal , Subunidad alfa 1 del Factor de Unión al Sitio Principal , MutaciónRESUMEN
OBJECTIVE: To determine whether a normal technetium-99m-labeled dimercaptosuccinic acid (DMSA) renal scan obviates the need for voiding cystourethrography (VCUG) in evaluating young children after their first urinary tract infection (UTI). STUDY DESIGN: This was a 10-year retrospective review of 142 children (age < or = 2 years, 77 boys and 65 girls) who had their first UTI and were admitted to a tertiary care general hospital. The association between DMSA renal scan results and VCUG results performed 48 hours and 1 month after diagnosis was evaluated. RESULTS: DMSA renal scans and VCUG were performed in 142 patients. Of these, 99 patients (69.7%) had evidence of pyelonephritis, although only 2 (1.4%) had evidence of renal scarring; 42 (29.6%) had vesicoureteral reflux (VUR) on VCUG. The sensitivity, specificity, positive and negative predictive values, and likelihood ratio negative for abnormalities on DMSA renal scans for detecting the the presence of VUR on VCUG were 88% (95% confidence interval [CI] = 73% to 100%), 36% (95% CI = 26% to 46%), 37% (95% CI = 27% to 46%), 88 % (95% CI = 73% to 100%), and 0.33 (95% CI = 0 to 0.88), respectively. CONCLUSIONS: Children with a negative DMSA renal scan during their first UTI episode rarely have VUR and may never have high-grade VUR. Avoiding VCUGs in children with negative DMSA renal scans could significantly reduce the use of this potentially traumatic test.