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1.
Zhonghua Er Ke Za Zhi ; 62(7): 636-642, 2024 Jul 02.
Artículo en Chino | MEDLINE | ID: mdl-38955681

RESUMEN

Objective: To investigate the effects of modified endoscopic retrograde appendicitis therapy (mERAT) on the treatment of children with different severities of acute appendicitis. Methods: This study was a case-control study. A total of 586 children with acute appendicitis, who were admitted to the Pediatric Department of Second Affiliated Hospital of Air Force Medical University between January 2019 and November 2023, were selected as the research subjects. According to the severity of the disease, the patients were divided into simple appendicitis group, suppurative appendicitis group and perforated appendicitis group. The baseline data, hospitalization treatment and costs, outcomes, and recurrence in each group were analyzed, and the difference in the effectiveness of mERAT between the groups were compared by Kruskal-Wallis H test and χ2 test. Results: Among 586 children, there were 338 males and 248 females. The age at onset was 7.0 (4.6, 9.4) years. There were 475 cases of simple appendicitis, 78 cases of suppurative appendicitis, and 33 cases of perforated appendicitis. There were no significant differences in age and gender among the three groups (F=0.59, χ2=3.31, both P>0.05). However, there were statistically significant differences in body temperature, white blood cell counts, neutrophil percentage, lymphocyte percentage, nausea or vomiting, right lower abdominal pain, umbilical pain, right lower abdominal tenderness, and right lower abdominal rebound pain (H=7.56, 161.52, 169.11, and 169.61, χ2=12.05, 13.82, 12.05, 7.74, 20.35, and 94.61, all P<0.05). Also, the treatment time, postoperative hospital stay, total hospital stay, and cost showed statistically significant differences (H=4.70, 33.66, 34.99, 30.37, all P<0.05). There was no significant difference in the initial treatment success rate (98.1% (466/475) vs. 98.7% (77/78) vs. 90.9% (30/33), P=0.057). During the 30 (23, 36) months of follow-up, the recurrence rate was 7.9% (35/433) in the simple appendicitis group, 20.8% (15/72) in the suppurative appendicitis group, and 30.0% (9/30) in the perforated appendicitis group, with a statistically significant difference (χ2=23.56, P<0.001). Among the children with recurrent appendicitis, 15 cases still chose mERAT, of them 11 cases (31.2%) had simple appendicitis, 2 cases (2/15) had suppurative appendicitis, and 2 cases (2/9) had perforated appendicitis.The latest time to recurrence in the 3 groups was 32, 35 and 10 months, respectively. Conclusion: Treatment with mERAT has a good effect in pediatric simple appendicitis, but has a higher recurrence rate despite a better initial treatment success rate in suppurative appendicitis and perforated appendicitis.


Asunto(s)
Apendicitis , Humanos , Apendicitis/cirugía , Apendicitis/terapia , Masculino , Femenino , Niño , Estudios de Casos y Controles , Resultado del Tratamiento , Preescolar , Apendicectomía/métodos , Enfermedad Aguda , Endoscopía/métodos , Índice de Severidad de la Enfermedad , Recurrencia , Hospitalización , Tiempo de Internación
2.
Zhonghua Yan Ke Za Zhi ; 60(1): 78-83, 2024 Jan 11.
Artículo en Chino | MEDLINE | ID: mdl-38199772

RESUMEN

This case report presents a family with developmental glaucoma accompanied by microcornea resulting from novel mutations in the ADAMTS18 gene. The index case involves a 5-year-old twin brother, who, during a routine examination, exhibited elevated intraocular pressure persisting for over a month. The peak intraocular pressure reached approximately 25 mmHg (1 mmHg=0.133 kPa) in both eyes, with a corneal diameter of less than 10 mm. Ocular examination revealed an enlarged cup-to-disc ratio, and optical coherence tomography (OCT) demonstrated thinning of the retinal nerve fiber layer and ganglion cell layer. Ultrasound biomicroscopy combined with gonioscopy indicated partial angle closure and abnormal anterior chamber angle development. The ocular manifestations in the twin brother were consistent with those observed in the twin sister. The clinical diagnosis was bilateral developmental glaucoma with microcornea. Genetic sequencing identified two novel compound heterozygous mutations in the ADAMTS18 gene in the twins: Mutation 1 (M1) involving the variant site 1 (c.3436C>T:p.R1146W) and Mutation 2 (M2) involving the variant site 2 (c.1454T>G:p.F485C). Ocular examinations of four additional family members were normal. Genetic testing revealed that the twins' father and sister carried M1, while the index case's mother and brother carried M2. This report underscores a unique association between ADAMTS18 gene mutations and developmental glaucoma with microcornea within a familial context, emphasizing the importance of genetic screening for early diagnosis and targeted management strategies.


Asunto(s)
Anomalías del Ojo , Glaucoma , Masculino , Humanos , Preescolar , Pruebas Genéticas , Glaucoma/genética , Mutación , Retina , Proteínas ADAMTS/genética
3.
J Therm Spray Technol ; 31(4): 866-907, 2022.
Artículo en Inglés | MEDLINE | ID: mdl-37520275

RESUMEN

Cold Spray (CS) is a deposition process, part of the thermal spray family. In this method, powder particles are accelerated at supersonic speed within a nozzle; impacts against a substrate material triggers a complex process, ultimately leading to consolidation and bonding. CS, in its modern form, has been around for approximately 30 years and has undergone through exciting and unprecedented developmental steps. In this article, we have summarized the key inventions and sub-inventions which pioneered the innovation aspect to the process that is known today, and the key breakthroughs related to the processing of materials CS is currently mastering. CS has not followed a liner path since its invention, but an evolution more similar to a hype cycle: high initial growth of expectations, followed by a decrease in interest and a renewed thrust pushed by a number of demonstrated industrial applications. The process interest is expected to continue (gently) to grow, alongside with further development of equipment and feedstock materials specific for CS processing. A number of current applications have been identified the areas that the process is likely to be the most disruptive in the medium-long term future have been laid down.

4.
Zhonghua Yu Fang Yi Xue Za Zhi ; 55(2): 258-262, 2021 Feb 06.
Artículo en Chino | MEDLINE | ID: mdl-34645189

RESUMEN

From December 2017 to December 2018, 3 509 subjects who had regular physical examination in Health Management Center, Tianjin Medical University General Hospital were enrolled in our study, including 399 cancer patients, 1 555 chronic disease patients, and 1 555 healthy control, respectively. The mean age was (55.87±11.98) years, and 31.38% were men. The prevalence of MS among chronic disease group (42.44%) was higher than that of cancer group (34.59%) and healthy control group (18.65%) (P<0.001). Compared with healthy control group, the OR (95%CI) values of MS risk in cancer group and chronic disease group were 2.13 (1.61-2.83) and 2.85 (2.23-3.66), respectively; the OR (95%CI) values of MS risk were 3.56 (2.04-6.21) and 2.77 (1.46-5.25) in breast cancer and thyroid cancer, respectively.


Asunto(s)
Síndrome Metabólico , Neoplasias , Adulto , Anciano , Estudios Transversales , Humanos , Masculino , Síndrome Metabólico/epidemiología , Persona de Mediana Edad , Prevalencia , Factores de Riesgo
5.
Eur Rev Med Pharmacol Sci ; 24(16): 8245, 2020 08.
Artículo en Inglés | MEDLINE | ID: mdl-32894523

RESUMEN

The article "Long noncoding RNA PVT1-214 enhances gastric cancer progression by upregulating TrkC expression in competitively sponging way, by S. Zhao, N.-F. Fan, X.-H. Chen, C.-H. Zhuo, C.-W. Xu, R.-B. Lin, published in Eur Rev Med Pharmacol Sci 2019; 23(10): 4173-4184-DOI: 10.26355/eurrev_201905_17920-PMID: 31173288" has been withdrawn from the authors. The Publisher apologizes for any inconvenience this may cause. https://www.europeanreview.org/article/17920.

6.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(4): 571-579, 2020 Apr 10.
Artículo en Chino | MEDLINE | ID: mdl-32344484

RESUMEN

Objective: To investigate the types and distribution of blood-sucking insects and arboviruses in Inner Mongolia autonomous region, and provide basic data for the prevention of arbovirus transmitted disease. Methods: Blood-sucking insects were collected by lamp trapping method in nature. Mosquito samples were classified according to morphologic characteristics and then stored at liquid nitrogen. Viruses were isolated in cell culture and characterized, using molecular biological methods. Results: A total of 24 240 mosquitoes and 17 110 aphids were collected from 2 sites of 5 counties (Flags) in Inner Mongolia in 2014 and during 2017-2018. Among them, Japanese encephalitis virus gene was detected in Culex pipiens pallens, and 4 virus strains isolates which could be stably passaged. The isolates were identified as Getah virus and densonucleosis virus by molecular biology identification. Phylogenetic analysis on the E2 gene of the Getah virus (NMDK1813-1) showed that it belonged to the same evolutionary branch of the Gansu isolates (GS10-2) and having six common amino acid variation sites. Conclusions: The emergence of Japanese encephalitis virus and Getah virus from specimen of mosquitoes in Inner Mongolia indicated the new challenges on the prevention and control of arbovirus and related diseases. The results pf this study provided basic data for the prevention and control stretagies of arbovirus transmitted diseases in Inner Mongolia.


Asunto(s)
Alphavirus/aislamiento & purificación , Culicidae/virología , Virus de la Encefalitis Japonesa (Especie)/genética , Virus de la Encefalitis Japonesa (Especie)/aislamiento & purificación , Encefalitis Japonesa , Mosquitos Vectores/virología , ARN Viral/genética , Animales , China , Filogenia , ARN Viral/aislamiento & purificación
7.
Zhonghua Liu Xing Bing Xue Za Zhi ; 41(2): 236-243, 2020 Feb 10.
Artículo en Chino | MEDLINE | ID: mdl-32164136

RESUMEN

Objective: To understand the types and distribution of Arboviruses in Hainan province. Methods: Blood-sucking insects were collected in Hainan province from 2017 to 2018. After laboratory treatment, BHK-21 cells and C6/36 cells were inoculated with grinding supernatant of all blood-sucking insects to isolate all of involving virus. Arbovirus genes in blood-sucking insects were detected in parallel by RT-PCR method. Results: A total of 15 062 mosquitoes were classified into four genera (Culex, Armigeres, Aedes, Anopheles) and 11 360 midges were collected. Culex tritaeniorhynchus was in the majority and accounted for 92.88% (13 990/15 062) of all the mosquitoes collected. Four strains of virus isolates were notified by tissue culture method. Three strains of viruses belonged to Japanese encephalitis virus (JEV), with the other one as Getah virus (GETV). Five pools of JEV gene amplification were positive, from Culex tritaeniorhynchus. Results from the phylogenetic analysis showed that they belonged to genotype JEV-Ⅰ. The minimum infection rate of JEV was 0.57‰ (8/13 990). A total of 5 pools of Akabane virus (AKV) gene amplification were positive. The minimum infection rate of AKV was 0.44‰ (5/11 360). Based on the S gene and M gene sequences of the virus, data from the phylogenetic analysis showed that the five AKV strains carried by midges in Hainan province were in a separate evolutionary branch and with formed unique geographical distribution. Conclusions: JEV and GETV had been isolated again from the mosquito specimens in this survey, since the 1980s. AKV was detected from the midge specimens in Hainan province. These results showed the needs of strengthening the programs on detection and monitor of JEV, GETV and AKV that were related to animal and human diseases in order to reduce the risks of related diseases in this area.


Asunto(s)
Arbovirus/genética , Arbovirus/aislamiento & purificación , Culicidae/virología , Alphavirus/genética , Alphavirus/aislamiento & purificación , Animales , China , Culex/virología , Virus de la Encefalitis Japonesa (Especie)/genética , Virus de la Encefalitis Japonesa (Especie)/aislamiento & purificación , Humanos , Filogenia
8.
Zhonghua Yan Ke Za Zhi ; 56(1): 17-20, 2020 Jan 11.
Artículo en Chino | MEDLINE | ID: mdl-31937059

RESUMEN

Lamina cribrosa (LC) is considered as the original site of glaucomatous damage of axons of retinal ganglion cells, and therefore understanding the morphological changes in the LC will help to uncover the pathogenesis of glaucoma. Previous studies have indicated that the progress of glaucomatous optic neuropathy may be associated with the LC defects. Based on imaging by swept source optical coherence tomography B-Scan of the optic discs of patients with glaucoma, for the first time the spontaneous local LC defects have been found to balance the gradient between intraocular and cerebrospinal fluid pressures, which in turn can slow down the progress of glaucomatous optic neuropathy. This article provides the direct evidence supporting the role of intraocular and cerebrospinal fluid pressure gradient in the pathogenesis of glaucoma. This finding will increase our understanding of the mechanisms underlying glaucoma and help to develop novel strategies for its treatment and prognosis analysis. (Chin J Ophthalmol, 2020, 56: 17-20).


Asunto(s)
Glaucoma/diagnóstico , Glaucoma/fisiopatología , Fibras Nerviosas/patología , Disco Óptico/patología , Enfermedades del Nervio Óptico/diagnóstico , Células Ganglionares de la Retina/patología , Humanos , Presión Intraocular , Tomografía de Coherencia Óptica/métodos
9.
Eur Rev Med Pharmacol Sci ; 23(10): 4173-4184, 2019 05.
Artículo en Inglés | MEDLINE | ID: mdl-31173288

RESUMEN

OBJECTIVE: Long noncoding RNA plasmacytoma variant translocation 1 (lncRNA PVT1) is aberrantly expressed and involved in the promotion of various cancers. However, the vital epigenetic function of PVT1-214, a transcript isoform of PVT1, in gastric cancer (GC) remains unknown. We aimed to investigate the dysregulation and detailed mechanism underlying the involvement of lncRNA PVT1-214 in GC. PATIENTS AND METHODS: The expression of PVT1-214 in GC tissues and cell lines was detected by qRT-PCR. The relationship between increased PVT1-214 levels and the advanced clinicopathological features of tumor tissues was analyzed using a Chi-square test. The influence of PVT1-214 on the survival rate of GC cell lines was evaluated by the log-rank test. Cell lines were used to explore the carcinogenic effects of PVT1-214 in vitro and in vivo, and specific tests included cell apoptosis determined by flow cytometry, cell proliferation assayed by Cell Counting Kit-8 (CCK-8) and colony formation, and the use of these cells for mice xenograft models. Direct complementary binding was predicted by bioinformatics and verified by dual luciferase reporter assay, RNA transfection, quantitative polymerase chain reaction (qPCR), and Western blotting. Spearman's correlation coefficient was adopted to evaluate the correlation between miR-128 and PVT1-214 levels. RESULTS: PVT1-214 expression in GC tissues and cell lines is markedly elevated. In GC patients, high expression of PVT1-214 is associated with late tumor stage, increased tumor size, and poor survival. PVT1-214 silencing represses cell proliferation and enhances apoptosis of GC cells both in vivo and in vitro. Additionally, PVT1-214 functions as a competing endogenous RNA (ceRNA) by binding to miR-128. Inhibition of miR-128 releases Tropomyosin receptor kinase C (TrkC) from the complementary binding complex, subsequently increasing the protein level of TrkC in GC cells. CONCLUSIONS: PVT1-214-induced miR-128 repression regulates TrkC to further the progression of GC, indicating that this process will provide a promising therapeutic target in GC.

11.
Genet Mol Res ; 15(3)2016 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-27706714

RESUMEN

In this study, we investigated the correlation between serum chemokine (C-C motif) ligand 18 (CCL-18) and the prognosis as well as clinical characteristics of breast cancer. Blood samples from 207 breast cancer patients, 126 individuals with benign breast tumors, and 93 healthy women were collected. Serum CCL-18 expression was detected by enzyme-linked immunosorbent assay. Mann-Whitney's U tests were carried out to analyze the relationship between serum CCL-18 and clinicopathological variables. The Kaplan-Meier method was used to evaluate the overall survival (OS), whereas differences between groups were analyzed by log-rank tests. The COX proportional hazard regression model was used to determine the association between clinicopathological characteristics and survival. We found that serum CCL-18 was significantly higher in breast cancer patients (290.06 ± 89.52 pg/mL) as compared to that in individuals with benign tumors (170.14 ± 26.57 pg/mL) or healthy women (119.36 ± 38.77 pg/mL) (P < 0.05). Serum CCL-18 was correlated with clinical cancer stages (P = 0.007), and was associated with advanced cancer stage (P < 0.05). The 5-year OS rate of breast cancer patients with high serum CCL- 18 was 35.9% (HR = 3.908, 95%CI = 2.546-12.090, P < 0.05), which was significantly lower as compared to that for patients with low serum CCL-18 (85.5%). Based on our results, we conclude that CCL-18 is a prognostic biomarker in patients with advanced breast cancer in Chinese patients.


Asunto(s)
Biomarcadores de Tumor/sangre , Neoplasias de la Mama/sangre , Carcinoma/sangre , Quimiocinas CC/sangre , Adulto , Neoplasias de la Mama/patología , Carcinoma/patología , Estudios de Casos y Controles , Femenino , Humanos , Persona de Mediana Edad
12.
Clin Radiol ; 71(1): e1-10, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-26545460

RESUMEN

AIM: To determine and compare the diagnostic value of computed tomography (CT)-guided percutaneous core needle biopsy (PCNB) and percutaneous fine-needle aspiration biopsy (PNAB) in pulmonary lesions. MATERIALS AND METHODS: PubMed, EMBASE, and the Web of Science were systematically searched for relevant studies that investigated the diagnostic accuracy of CT-guided PCNB and/or PNAB for pulmonary lesions up to December 2014. After study selection, data extraction, and quality assessment, the sensitivity (SEN), specificity (SPE), diagnostic odds rate (DOR), positive likelihood ratios (PLR), negative likelihood ratios (NLR), and summary receiver operating characteristic (SROC) curves were calculated using the Meta-Disc 1.4 software. RESULTS: Nineteen publications, including 21 independent studies, met the inclusion criteria. Of them, 15 studies were included in the PCNB group and six studies in the PNAB group. The pooled SEN, SPE, DOR, PLR, NLR, and SROC were 0.95, 0.99, 54.72, 0.06, 821.90, and 0.98 in the PCNB group and 0.90, 0.99, 24.71, 0.14, 210.72, and 0.98 in the PNAB group, respectively. CONCLUSION: Based on current evidence, both PCNB and PNAB can be used as diagnostic methods to distinguish benign and malignant pulmonary lesions; the difference between PCNB and PNAB regarding diagnostic accuracy of benign or malignant pulmonary lesions is not obvious.


Asunto(s)
Biopsia con Aguja Fina , Biopsia con Aguja Gruesa , Biopsia Guiada por Imagen , Enfermedades Pulmonares/patología , Tomografía Computarizada por Rayos X/métodos , Diagnóstico Diferencial , Humanos , Enfermedades Pulmonares/diagnóstico por imagen , Sensibilidad y Especificidad
13.
Genet Mol Res ; 14(4): 15295-300, 2015 Nov 30.
Artículo en Inglés | MEDLINE | ID: mdl-26634493

RESUMEN

Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a family, in which six individuals are affected with increased bone fragility and blue sclera. Results of exome sequencing revealed a novel 1-bp deletion (c.2329delG, p.A777fs) in exon 33 of the COL1A1 gene in two affected individuals, but not in a control family member without OI. The variation co-segregated with the disease in all the OI patients but not in the unaffected family members. The mutation caused a frameshift alteration after codon 777, leading to premature termination of the COL1A1 protein. Thus, our findings identified a novel frameshift deletion c.2329delG (p.A777fs) in the COL1A1 gene, which is associated with OI type IA in a Chinese family.


Asunto(s)
Pueblo Asiatico/genética , Colágeno Tipo I/genética , Dentinogénesis Imperfecta/genética , Mutación del Sistema de Lectura/genética , Osteogénesis Imperfecta/genética , Eliminación de Secuencia/genética , Cadena alfa 1 del Colágeno Tipo I , Exones/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , Linaje
14.
Genet Mol Res ; 14(2): 4125-32, 2015 Apr 27.
Artículo en Inglés | MEDLINE | ID: mdl-25966184

RESUMEN

The purpose of this study was to identify the clinical features and mutations in the fibrillin-1 gene (FBN1) in a large Chinese family with autosomal dominant Marfan syndrome (MFS). Seventeen members from a Chinese family of 4 generations were included in the study. All members underwent complete ophthalmic examination. Molecular genetic analysis was performed on all subjects. All exons of FBN1 were amplified by polymerase chain reaction, sequenced, and the sequences were compared with a reference database. Variations were evaluated in family members as well as 100 normal controls. Changes in structure and function of the protein induced by amino acid variation were predicted by bioinformatic analysis. Ectopia lentis, dolichostenomelia, arachnodactyly, and tall stature were present in all patients diagnosed with MFS. The novel heterozygous missense mutation c.2243 T>G (p.C781W) in exon 19 of FBN1 was identified in all 5 patients, but not in other family members or 100 normal controls. This mutation caused an amino acid substitution of cysteine to tryptophan at position 781 (p.C781W) of the FBN1 protein. This mutation occurred in a highly conserved region and may cause structural and functional changes in the protein according to our bioinformatic analysis. Our results suggest that the novel mutation C781W of FBN1 is responsible for the pathogenesis of MFS in this pedigree.


Asunto(s)
Pueblo Asiatico/genética , Desplazamiento del Cristalino/genética , Fibrilina-1/genética , Síndrome de Marfan/genética , Adolescente , Adulto , Anciano , Sustitución de Aminoácidos , Secuencia de Bases , Niño , Análisis Mutacional de ADN , Exones/genética , Femenino , Fibrilinas , Genotipo , Heterocigoto , Humanos , Masculino , Persona de Mediana Edad , Mutación Missense , Análisis de Secuencia de ADN
15.
Genet Mol Res ; 13(4): 8679-85, 2014 Oct 27.
Artículo en Inglés | MEDLINE | ID: mdl-25366758

RESUMEN

Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins' father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus. A novel mutation c.888 insA in exon 10 of PAX6 was identified in all affected individuals. This study suggests that the novel mutation c.888 insA is likely responsible for the pathogenesis of the congenital aniridia and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation in PAX6 gene in pedigree with aniridia. Furthermore, no PAX6 gene defect was reported in twins with congenital aniridia.


Asunto(s)
Aniridia/genética , Proteínas del Ojo/genética , Proteínas de Homeodominio/genética , Mutación , Nistagmo Congénito/genética , Factores de Transcripción Paired Box/genética , Proteínas Represoras/genética , Adulto , Aniridia/complicaciones , Aniridia/diagnóstico , Catarata/complicaciones , Niño , Exones , Femenino , Humanos , Masculino , Nistagmo Congénito/complicaciones , Factor de Transcripción PAX6 , Linaje , Gemelos
16.
Genet Mol Res ; 13(3): 5395-404, 2014 Jul 24.
Artículo en Inglés | MEDLINE | ID: mdl-25078596

RESUMEN

This study aimed to characterize the clinical features of a Chinese pedigree with neurofibromatosis type 1 (NF1) and to identify mutations in the NF1 gene. In this three-generation family containing 8 members, 5 had been diagnosed with NF1 and the others were asymptomatic. All members of the family underwent complete medical examinations. Molecular genetic analyses were performed on all subjects included in the study. All exons of NF1 were amplified by polymerase chain reaction, sequenced, and compared with a reference database. Possible changes in function of the protein induced by amino acid variants were predicted by bioinformatic analysis. In this family, the 5 patients presented different clinical phenotypes, but all manifested typical café-au-lait macules. One novel frame-shift mutation, c.702_703delGT, in exon 7 of NF1 was identified in all affected family members, but not in the unaffected family members or in 102 normal controls. This mutation generates a premature stop codon at amino acid position 720. Additionally, a synonymous mutation c.702 G>A was found in 3 family members, including 2 affected and 1 normal individuals. In conclusion, our study suggests that a novel c.702_703delGT frame-shift mutation in NF1 is likely to be responsible for the pathogenesis of NF1 in this family. To the best of our knowledge, it is the first time that a c.702_703delGT mutation has been identified in a family with neurofibromatosis type 1.


Asunto(s)
Exones , Mutación del Sistema de Lectura , Neurofibromatosis 1/genética , Neurofibromina 1/genética , Adulto , Secuencia de Aminoácidos , Pueblo Asiatico , Secuencia de Bases , Estudios de Casos y Controles , Niño , Preescolar , Codón sin Sentido , Femenino , Expresión Génica , Genotipo , Humanos , Masculino , Datos de Secuencia Molecular , Neurofibromatosis 1/etnología , Neurofibromatosis 1/patología , Linaje , Fenotipo
18.
Int J Clin Oncol ; 6(3): 138-42, 2001 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-11706783

RESUMEN

BACKGROUND: In hyperthermia for cancer therapy, thermal parameters related to tumor response have not yet been clarified. We investigated thermal parameters that could predict tumor response to hyperthermia combined with radiotherapy in locally advanced malignancies. METHODS: Fifty-four patients with locally advanced malignancies who were treated by hyperthermia in combination with radiation therapy were enrolled in this study. Local hyperthermia was induced by ultrasound heating equipment for 60 min, within 30 min after irradiation, twice a week, for a total of six to ten sessions. Radiation therapy was administered with a conventional fractionation regimen, at a total dose of 40-70 Gy. Multi-point thermometry results were obtained with every 10-s temperature data acquisition. An average of seven interstitial sites per tumor was monitored for each treatment. Univariate logistic regression analysis was used to investigate the relationship between tumor response and minimum, maximum, and average intratumor temperature (Tmin, Tmax, Tav); the cumulative minutes of treatment at temperatures exceeded by 90%, 50%, and 10% of the measured intratumoral temperatures (T90, T50, T10); and cumulative minutes of the temperature that achieved above the index temperature value in the tumor center ((Cum min T(center) > T(index)). RESULTS: Complete and partial response rates were 32.6% and 46.2%, respectively. Univariate logistic regression analysis revealed that the temperature parameters with predictive probability were highest for Cum min T(center) > 42.5 degrees C, followed by > 42 degrees C and > 41 degrees C; and T90. Cum min T(center) > 42.5 degrees C was most significantly associated with complete tumor response (P < 0.001). CONCLUSION: These results strongly suggest that hyperthermia is a useful adjunct to radiotherapy for increasing the local control of advanced malignancies, and that Cum min T(center) > 42.5 degrees C could be an important thermal parameter for predicting tumor response.


Asunto(s)
Hipertermia Inducida/métodos , Neoplasias/terapia , Adulto , Anciano , Terapia Combinada , Femenino , Humanos , Masculino , Persona de Mediana Edad , Neoplasias/radioterapia , Valor Predictivo de las Pruebas , Pronóstico , Análisis de Regresión , Programas Informáticos , Temperatura , Resultado del Tratamiento
19.
ANZ J Surg ; 71(9): 541-3, 2001 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-11527265

RESUMEN

BACKGROUND: Recently, topical steroid application has been shown by a small number of studies to be an effective alternative to circumcision for the treatment of phimosis. However, only potent or very potent corticosteroids have been more thoroughly studied in this treatment option. A prospective study was conducted to determine whether comparable results could be achieved using a weaker steroid cream. METHODS: Boys, 3-13 years of age, with non-retractable foreskin due to a tight ring at the tip were offered the regimen of twice-daily preputial retraction and topical application of 0.02% triamcinolone acetonide cream. The degree of preputial retractability was assessed at presentation and at 4 and 6 weeks of treatment. Success was defined as full retraction or free retraction up to agglutination of the foreskin to the glans. RESULTS: Eighty-three boys completed the treatment. Successful retraction was achieved in 48/83 (58%) patients after 4 weeks and 70/83 (84%) patients after 6 weeks of application. The overall response rate aggregated from six published series using 0.05% betamethasone was 87% at 4 weeks and 90% on completion of treatment. Thus, the results appear inferior when analysed at 4 weeks but compare favourably with those reported for a more potent steroid on completion of the full course of treatment. CONCLUSIONS: Even though the triamcinolone cream used in the present study is less potent than the more commonly used 0.05% betamethasone valerate cream, it could effect comparable improvements in foreskin retractability after 6 weeks of treatment.


Asunto(s)
Antiinflamatorios/administración & dosificación , Pene/efectos de los fármacos , Fimosis/tratamiento farmacológico , Triamcinolona Acetonida/administración & dosificación , Administración Tópica , Adolescente , Antiinflamatorios/uso terapéutico , Niño , Preescolar , Humanos , Masculino , Pomadas/administración & dosificación , Pomadas/uso terapéutico , Estudios Prospectivos , Resultado del Tratamiento , Triamcinolona Acetonida/uso terapéutico
20.
Am J Physiol Lung Cell Mol Physiol ; 278(1): L81-9, 2000 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-10645894

RESUMEN

To determine the effects of chronic nitric oxide (NO) blockade on the pulmonary vasculature, 58-day-old spontaneously hypertensive rats of the stroke-prone substrain (SHRSP) and Wistar-Kyoto rats (WKY) received N(omega)-nitro-L-arginine (L-NNA; 15 mg. kg(-1). day(-1) orally for 8 days). Relaxation to acetylcholine (ACh) in hilar pulmonary arteries (PAs), the ratio of right ventricular (RV) to body weight (RV/BW) to assess RV hypertrophy (RVH), and the percent medial wall thickness (WT) of resistance PAs were examined. L-NNA did not alter the PA relaxation, RV/BW, or WT in WKY. Although the PA relaxation and RV/BW in control SHRSP were comparable to those in WKY, the WT was increased (31 +/- 2 vs. 19 +/- 1%). L-NNA-treated SHRSP showed two patterns: in one group, the relaxation, RV/BW, and WT were comparable to those in the control SHRSP; in the other, impaired relaxation (36 +/- 7 vs. 88 +/- 4% for WKY) was associated with an increase in WT (37 +/- 1%) and RV/BW (0. 76 +/- 0.05). Thus the abnormal pulmonary vasculature in SHRSP at <10 wk of age is not accompanied by impaired relaxation in PAs or RVH; however, impaired relaxation is associated with increased WT and RVH.


Asunto(s)
Predisposición Genética a la Enfermedad , Hipertensión Pulmonar/genética , Hipertensión Pulmonar/fisiopatología , Óxido Nítrico Sintasa/antagonistas & inhibidores , Circulación Pulmonar , Accidente Cerebrovascular/genética , Animales , Presión Sanguínea/efectos de los fármacos , Vasos Sanguíneos/efectos de los fármacos , Vasos Sanguíneos/fisiopatología , AMP Cíclico/fisiología , GMP Cíclico/fisiología , Endotelio Vascular/fisiopatología , Inhibidores Enzimáticos/farmacología , Hipertensión Pulmonar/patología , Hipertrofia Ventricular Izquierda/patología , Hipertrofia Ventricular Derecha/patología , Pulmón/patología , Nitroarginina/farmacología , Circulación Pulmonar/efectos de los fármacos , Ratas , Ratas Endogámicas SHR/genética , Ratas Endogámicas WKY , Vasodilatación
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