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1.
Med Oral Patol Oral Cir Bucal ; 20(2): e167-79, 2015 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-25475780

RESUMEN

OBJECTIVES: Early detection and treatment of an oral squamous cell carcinoma (OSCC) is critical because of its rapid growth, frequent lymph-node metastasis, and poor prognosis. However, no clinically-valuable methods of early diagnosis exist, and genetic analysis of OSCCs has yielded no biomarkers. STUDY DESIGN: We investigated the expression of genes associated with inflammation in OSCCs via a quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) analysis of microarray data. Tumor and normal tissues from five patients with an OSCC were used for microarray analysis. Differentially-expressed genes, identified using permutation, local pooled error (LPE), t-tests, and significance analysis of microarrays (SAM), were selected as candidate genetic markers. RESULTS: Two groups corresponding to tissue identity were evident, implying that their differentially-expressed genes represented biological differences between tissues. Fifteen genes were identified using the Student's paired t-test (p<0.05) and the SAM, with a false discovery rate of less than 0.02. Based on gene expression, these 15 genes can be used to classify an OSCC. A genetic analysis of functional networks and ontologies, validated by using a qRT-PCR analysis of the tissue samples, identified four genes, ADAM15, CDC7, IL12RB2 and TNFRSF8, that demonstrated excellent concordance with the microarray data. CONCLUSIONS: Our study demonstrated that four genes (ADAM15, CDC7, IL12RB2 and TNFRSF8) had potential as novel biomarkers for the diagnosis and the treatment of an OSCC.


Asunto(s)
Biomarcadores de Tumor/genética , Carcinoma de Células Escamosas/genética , Detección Precoz del Cáncer/métodos , Neoplasias de la Boca/genética , Biomarcadores de Tumor/análisis , Carcinoma de Células Escamosas/química , ADN de Neoplasias/análisis , Femenino , Perfilación de la Expresión Génica , Regulación Neoplásica de la Expresión Génica , Humanos , Masculino , Persona de Mediana Edad , Neoplasias de la Boca/química
2.
Chinese Journal of Neurology ; (12): 1254-1262, 2023.
Artículo en Zh | WPRIM | ID: wpr-1029140

RESUMEN

Objective:To analyze the clinical, imaging and genetic characteristics of 2 pedigrees with hereditary spastic paraplegia type 7 (SPG7).Methods:The clinical data of the probands and related members of 2 families hospitalized in the Department of Neurology of Henan Provincial People′s Hospital from December 2018 to December 2021 were collected. The probands and all family members were subjected to cranial MRI imaging and genetic testing, and the clinical characteristics and genetic variation of SPG7 families were compared with those reported in the literature.Results:Four patients from the 2 families were observed with adult-onset age in this group. The main manifestations were wide-base ataxic gait in 4 cases, and spastic gait in 1 case during follow-up. Pyramidal tract involvement mainly in the lower limbs were found in all cases, and dysarthria in 3 cases. MRI of 3 patients showed varying degrees of cerebellar atrophy. Genetic testing revealed compound heterozygous or homozygous variants of the SPG7 gene in the 4 patients, of which c.2062C>T and c.2176C>T were novel mutations. At present, only 5 SPG7 families have been reported in China. Among the 12 patients in all groups, 12 cases of pyramidal tract involvement, 10 cases of cerebellar ataxia, 7 cases of dysarticulation, 3 cases of cognitive impairment, 11 cases of complex hereditary spastic paraplegia, 1 case of simple hereditary spastic paraplegia, and 9 cases of cerebellar atrophy were reported. Six novel mutations have been reported in 5 families. Conclusions:SPG7 family is rarely reported in China, mainly manifested as pyramidal tract involvement combined with cerebellar ataxia, accompanied by cerebellar atrophy. SPG7 mutation is confirmed by genetic detection, and there are many novel mutations in SPG7 family in China.

3.
Chinese Journal of Neuromedicine ; (12): 355-360, 2023.
Artículo en Zh | WPRIM | ID: wpr-1035821

RESUMEN

Objective:To investigate the muscle MRI features of the lower extremities and correlations between MRI fatty degeneration total scores and other clinical features in limb girdle muscular dystrophy type R1 (LGMDR1) patients.Methods:Clinical data of 8 patients with LGMDR1 diagnosed by genetic examination in Department of Neurology, He'nan Provincial People's Hospital&People's Hospital of Zhengzhou University from May 2016 to November 2021 were retrospectively analyzed. Disease severity was evaluated by Gardner-Medwin and Walton (GM-W) scale. Pathological staining results of the lower limb muscles were observed; the fatty infiltration and edema of the muscles were observed by MRI T1WI and short-tau inversion recovery (STIR) sequences. Lower limb muscles were scored using Mercuri's scale. Spearman rank correlation was used to analyze the correlations of MRI fatty degeneration total scores of the lower extremities with age, age of onset, disease duration, GM-W scale scores and creatinine kinase (CK) level.Results:Of the 8 patients with LGMDR1, 7 had decreased muscle strength in the proximal lower extremity, including 4 with decreased muscle strength in the distal lower extremity at the same time. Muscular dystrophy-like pathological changes of skeletal muscles were noted. All 8 LGMDR1 patients showed different degrees of fatty infiltration in the lower extremities: at the thigh level, the adductor magnus, biceps femoris long head, semimembranes, semitendinosus and adductor longus were the most severely fatty degeneration muscles (mean scores>4), with relatively sparing of the sartorius and rectus femoris; regarding the calves, gastrocnemius medial head was the mostly involved, followed by soleus, with relative sparing of the tibialis posterior and anterior compartment. Edema-like changes (mild) were observed in 7 patients; the muscles that most frequently and relatively severely displayed edema-like changes were the gastrocnemius lateral head and quadriceps. The fatty degeneration total scores of the lower extremities were positively correlated with GM-W scale scores ( r=0.872, P=0.005) and negatively correlated with CK level ( r=-0.929, P=0.001), but not significantly correlated with age, age of onset or disease duration ( r=0.635, P=0.091; r=0.571, P=0.139; r=0.551, P=0.157). Conclusion:The lower limb muscles with severe fatty infiltration are less prone to show edema-like changes; fatty degeneration can be used to evaluate LGMDR1 progress; involvement pattern of muscle MRI of the lower extremities is helpful in diagnosing and differentially diagnosing LGMDR1.

4.
Chinese Journal of Neurology ; (12): 143-150, 2023.
Artículo en Zh | WPRIM | ID: wpr-994811

RESUMEN

Objective:To investigate the clinical, pathological and genetic characteristics of myopathy-type very long chain acyl-coenzyme A dehydrogenase deficiency (VLCADD).Methods:The detailed clinical data, muscle biopsy pathology and molecular results of 4 patients with genetically confirmed myopathy-type VLCADD admitted to Henan Provincial People′s Hospital and Xuanwu Hospital, Capital Medical University from June 2014 to November 2019 were retrospectively analyzed.Results:All of the 4 patients were late-onset myopathy-type VLCADD. The onset age ranged from 13 to 16 years, with a mean age of 14.5 years. The age at diagnosis ranged from 21 to 54 years, with a mean age of 42.5 years. The main clinical manifestation was repeated rhabdomyolysis, including myalgia, weakness and dark urine. Obvious somnolence was observerd in 1 patient. Muscle biopsy pathology revealed mild lipid accumulation, without vacuoles. Six ACADVL variations were detected in the 4 patients, including c.1283G>A (p.R428H), c.1532G>A (p.R511Q), c.833_835delAGA (p.K278del), c.1843C>T (p.R615 *), c.1748C>T (p.S583L) and c.1391C>T (p.T464I),among which c.1391C>T (p.T464I) was a novel variation, predicted to be likely pathogenic. Other 5 variations were reported pathogenic variations. Conclusions:Myopathy-type VLCADD is characterized by paroxysmal rhabdomyolysis and can be associated with somnolence. There is no specificity in muscle pathology. There are ACADVL variations, among which c.1391C>T is a novel variation.

5.
Chinese Journal of Neurology ; (12): 140-145, 2022.
Artículo en Zh | WPRIM | ID: wpr-933770

RESUMEN

Objective:To improve the clinician′s recognition of the clinical and molecular characteristics of primary familial brain calcification (PFBC).Methods:The detailed clinical information, imaging and molecular characteristics were analyzed in proband and family members of a genetically confirmed autosomal recessive PFBC family. The clinical and imaging features of junctional adhesion molecule 2 (JAM2) gene related PFBC were analyzed in combination with the literature review.Results:The proband was a 32-year-old man, with slurred speech and paroxysmal limb twitch as the first symptoms, accompanied by cognitive dysfunction, and rigidity in the limbs, with epilepsy in the past. Brain CT showed extensive, symmetrical, and bilateral calcification involving the cerebellum, basal ganglia, thalamus, subcortex and cortex. Other family members showed no related clinical symptoms. Brain CT of the parents of the proband showed no calcification. Gene testing of the proband revealed a homozygous c.685C>T(p.R229*) mutation in JAM2 gene, which has been reported as a pathogenic variation abroad, whereas has not been reported in China. The proband′s parents and children were found with heterozygous c.685C>T (p.R229*) mutation.Conclusions:Autosomal recessive inherited PFBC is a rare disease, and JAM2 mutation is a newly discovered pathogenic gene of PFBC in 2020. Patients with intracranial calcification should be alert of JAM2 gene mutation.

6.
Chinese Journal of Neuromedicine ; (12): 379-386, 2022.
Artículo en Zh | WPRIM | ID: wpr-1035623

RESUMEN

Objective:To investigate the clinical and genetic features of Pompe disease, and analyze the effect of enzyme replacement therapy on it.Methods:A retrospective study was performed. The clinical data and genetic results of 14 patients with Pompe disease from 12 families, admitted to our hospital from January 2017 to June 2021, were collected. Some patients were followed up after therapies.Results:Twelve of the 14 patients were late onset, with onset age ranged from 1.5 to 37.0 years (mean 15.2 years), and the other 2 patients were infantile onset. The predominant manifestations included proximal lower limb weakness, accompanied by easy fatigue and myalgia; 8 patients presented with dyspnea, of which one had dyspnea as initial presentation. Serum creatine kinase ranged from 172 to 1397 IU/L (mean 878 IU/L). Electromyography revealed myogenic pattern in 6 patients and myotonic discharge in 4 patients. Forced vital capacity decreased in 10 patients, and scoliosis was detected in 5 patients; 13 patients had decreased acid-alpha-glucosidase (GAA) activity; muscle pathology indicated vacuolar myopathy in 8 patients. Genetic test revealed 17 variants in GAA gene, among which c.2331G>C, c.1622C>T, c.1585T>C, and c.1837T>C were 4 novel likely pathogenic variants. The c.2238G>C and c.2662G>T were found in 5 and 3 families, respectively. Muscle strength and lung function got improvement in 1 patient who received enzyme replacement therapy and had regular follow-up, while muscle strength and lung function were worsened in those who did not receive enzyme replacement therapy. Conclusions:Pompe disease is characterized by skeletal muscle weakness and pulmonary dysfunction, and may be associated with spinal deformity; creatine kinase is mildly to moderately elevated, and myotonic discharge can be detected. GAA c.2238G>C and c.2662G>T are hotspot mutations in China; the 4 novel variants enrich the GAA mutational spectrum. Enzyme replacement therapy may improve motor and pulmonary function.

7.
Chinese Journal of Neurology ; (12): 649-654, 2021.
Artículo en Zh | WPRIM | ID: wpr-911772

RESUMEN

Objective:To report the clinical and genetic features of a pedigree with familial encephalopathy with neuroserpin inclusions bodies (FENIB) and to enhance the understanding of the disease.Methods:The proband was admitted to Department of Neurology, Henan Provincial People′s Hospital in June 2020 due to cognitive impairment and epilepsy. Detailed medical history inquiry, physical examinations, and neuroimaging examination of the family were conducted. The proband completed the examination of brain magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebrospinal fluid examinations. Whole exome sequencing and Sanger sequencing were used to screen the genetic variations in the proband. Sanger sequencing was performed in some family members to verify the mutation. Through literature review, the characteristics of the disease were summarized.Results:The proband was a 23-year-old young female with progressive cognitive impairment, epilepsy as the main manifestations. Brain MRI indicated moderate atrophy of bilateral cerebral cortex. Genetic sequencing revealed a heterozygous missense mutation (c.1013A>G; p.H338R) of SERPINI1 gene encoding the neuroserine protease inhibitor protein. The proband′s mother and brother had similar clinical symptoms in adolescence. Both of them passed away several years later. This mutation was a proven pathogenic mutation for FENIB. The clinical phenotype was consistent within the family. Genotype and clinical phenotype were co-segregated.Conclusion:FENIB due to SERPINI1 gene mutations should be considered in young cases of cognitive decline, epilepsy and myoclonus.

8.
Artículo en Zh | WPRIM | ID: wpr-870170

RESUMEN

Objective:To investigate the clinical, myopathological and genetic mutation characteristics in two Chinese families with paramyotonia congenita (PMC).Methods:Clinical manifestations, electrophysiology, muscle pathology and gene sequencing of two Chinese families with PMC were analyzed retrospectively.Results:Family 1 involved 12 patients in 4 consecutive generations and family 2 involved only 1 patient in 3 generations. The onset of symptoms in all patients started at early childhood. Both probands presented with myotonia triggered by cold and paroxysmal weakness. However, the other 11 patients in family 1 only manifested cold-induced myotonia. Serum creatine kinase (CK) was slightly elevated between attacks of weakness in the 2 probands, and was even greater than 10 000 U/L during the episodes of weakness in the second proband, whose lower limb MRI revealed edema in bilateral medial gastrocnemius. Electromyography showed diffuse myotonia discharge and myogenic impairment in both probands, and myotonia discharge in the first proband′s mother. Muscle pathology of both probands showed mild myopathic changes, and tube aggregation was occasionally observed in the second one. Genetic testing revealed a maternally inherited heterozygous R1448H mutation of SCN4A gene in the first proband and part of his family. A novel heterozygous R1448G mutation of SCN4A gene was reported in the second proband.Conclusions:Cold-triggered myotonia with or without paroxysmal weakness are the common characteristics of PMC. Myotonic potential and myogenic impairment can be tested in electromyography. The p.R1448G mutation is a new missense mutation.

9.
Chinese Pharmacological Bulletin ; (12): 1714-1719, 2019.
Artículo en Zh | WPRIM | ID: wpr-857077

RESUMEN

Aim To construct TLR9 gene knockout mouse model and preliminarily identify the phenotypes. Methods The TLR9 knockout mice were established by CRISPR/Cas9 system. The genotype of knockout mice was identified by capillary gel electrophoresis, while the PCR product was sequenced to analyse the knockout efficiency. The mRNA and protein expression level of TLR9 were determined by qRT-PCR, Western blot and immunohistochemistry. Genetic traits, body weight and blood routine changes were also measured. Pathological changes of mouse tissues were observed by hematoxylin-eosin (HE) staining. Results PCR and sequencing results showed that the stable TLR9 gene knockout mice were generated. The TLR9 gene expres-sions of knockout mice in spleen and liver tissues were significantly lower than those of wild-type mice. The growth and breeding of TLR9 knockout mice were normal , as well as all indexes of body weight and peripheral blood routine. The histomorphological characteristics of TLR9 knockout mice showed no significant difference compare to wild-type mice. Conclusions The TLR9 knockout mice are successfully established, providing an experimental animal model for studying the biological functions and regulatory mechanisms of the TLR9.

10.
Artículo en Zh | WPRIM | ID: wpr-776775

RESUMEN

OBJECTIVE@#To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy.@*METHODS@#Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband.@*RESULTS@#The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c.341G>A (p.G114D) mutation in exon 2 of the INF2 gene.@*CONCLUSION@#The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c.341G>A mutation of the INF2 gene.


Asunto(s)
Niño , Femenino , Humanos , Masculino , Enfermedad de Charcot-Marie-Tooth , Genética , Glomeruloesclerosis Focal y Segmentaria , Genética , Heterocigoto , Proteínas de Microfilamentos , Genética , Mutación , Linaje
11.
Artículo en Zh | WPRIM | ID: wpr-797495

RESUMEN

Objective@#To explore phenotypic and mutational characteristics of a pedigree affected with autosomal dominant Charcot-Marie-Tooth disease (CMT) and nephropathy.@*Methods@#Clinical data of the proband and his family members was collected. Electrophysiology, renal biopsy and next-generation sequencing were carried out for the proband.@*Results@#The proband presented with distal lower limb weakness and proteinuria in childhood. His mother and brother had similar symptoms. Electrophysiological test of the proband revealed demyelination and axonal changes in both motor and sensory nerves. Renal biopsy suggested focal segmental glomerulosclerosis. Genetic testing revealed a heterozygous c. 341G>A (p.G114D) mutation in exon 2 of the INF2 gene.@*Conclusion@#The phenotypic feature of the pedigree is autosomal dominant intermediate CMT and focal segmental glomerulosclerosis, which may be attributed to the c. 341G>A mutation of the INF2 gene.

12.
Chinese Journal of Neuromedicine ; (12): 610-614, 2018.
Artículo en Zh | WPRIM | ID: wpr-1034829

RESUMEN

Objective To investigate clinical and myopathological features and genetic mutations of GNE myopathy.Methods The clinical manifestations and pathological findings of 4 patients were reviewed who had been treated for GNE myopathy at Department of Neurology,The People's Hospital of Zhengzhou University from January 2016 to July 2017.The exons of GNE gene were sequenced to detect gene mutations in all of them.Results Onset of the disease started at late adolescence or early adulthood in the 4 patients (2 siblings).Gait disturbance appeared as an initial symptom.The disease progressed slowly and the distal muscles were more affected than the proximal ones.Muscle magnetic resonance imaging revealed that the soleus and the anterolateral muscles of the lower leg were the most severely involved and the internal and posterior compartments of the thigh muscles were more involved than the anterior one.The characteristic pathological finding was presence of rimmed vacuoles.Two siblings (Patients 1 and 2) both had the same compound heterozygous mutations of p.G395R and p.D207V,patient 3 had the compound heterozygous mutations of p.D207V and p.G166D,and patient 4 had the homozygous mutation ofp.G237D.Conclusions Sparing of the quadriceps relatively is a very unique feature of GNE myopathy.Missense mutations (G395R and G237D) may be 2 new ones in the GNE gene.

13.
Chinese Journal of Neurology ; (12): 712-716, 2018.
Artículo en Zh | WPRIM | ID: wpr-711010

RESUMEN

Objective To investigate the frequency and location of cerebral microbleeds in cerebral autosomal dominant arteriopathy with subcortical infarct and leukoencephalopathy (CADASIL) to understand the imaging and clinical features of the disease.Methods Cranial magnetic resonance imaging and susceptibility-weighted imaging were assessed in seven symptomatic CADASIL patients in People's Hospital of Zhengzhou University from 2014 to 2017.Imaging features and clinical significance of these patients were analyzed retrospectively.Results The seven patients were diagnosed by Notch3 gene detection.Mutations were found in exon 11 in four cases,and in exon 4 in three cases.All the seven patients with CADASIL had cerebral microbleeds,the number of which was 108 (4-36).The number of cerebral microbleeds was found to be higher in cortico-subcortical region than in any other regions.One of CADASIL patients with cerebral microbleeds had intracerebral hemorrhage located in external capsule.The patient with intracerebral hemorrhage had hypertension and multiple cerebral microbleeds.Conclusions Cerebral microbleeds are common imaging characteristics in symptomatic CADASIL,most of which locate in cortico-subcortical region.Cerebral hemorrhage is one of the clinical manifestations of CADASIL patients.

14.
Artículo en Zh | WPRIM | ID: wpr-620003

RESUMEN

Objective To explore any effect of repetitive transcranial magnetic stimulation (rTMS) on the cognitive ability of patients suffering from cognitive impairment after cerebral venous thrombosis (CVT).Methods Forty-three CVT patients with cognitive impairment were recruited and randomly assigned into an rTMS group (n =23) or a control group (n=20).Both groups received routine drug therapy and cognitive function training,while the rTMS group was additionally given rTMS.The treatment lasted 4 weeks.The Montreal cognitive assessment (MoCA),the Hamilton depression scale (HAMD),the modified auditory Barthel Index (MBI) and event-related potential P300 were used to test both groups before and after the treatment.Results After the treatment the average MoCA and MBI scores of both groups had increased significantly,while their average HAMD scores had decreased significantly compared to before the treatment.For both groups,the P300 latency had shortened significantly and the amplitude increased significantly after the treatment.The improvement in all of these indicators was significantly greater in the rTMS group than in the control group.Conclusion Supplementing drug therapy with rTMS can significantly improve the cognitive ability of CVT patients and is worth applying in clinical practice.

15.
Artículo en Inglés | WPRIM | ID: wpr-102827

RESUMEN

OBJECTIVES: The purpose of this study was to establish normative data for healthy Korean adults by measuring the maximal strength and endurance scores of the tongue, lip, and cheek, and to examine correlations between these measurements. MATERIALS AND METHODS: This study included 120 subjects that were divided into three groups according to age: young (20-39 years), middle-aged (40-59 years), and older (over 60 years); and by gender. Measurements were taken using the Iowa Oral Performance Instrument (IOPI). RESULTS: The mean maximal tongue strengths were as follows: young men (46.7±10.2 kPa) and women (32.1±7.9 kPa), middle-aged men (40.9±9.3 kPa) and women (36.9±8.6 kPa), and older men (35.2±9.0 kPa) and women (34.5±6.9 kPa). The mean tongue endurance scores were: young men (28.8±12.6 seconds) and women (20.8±13.5 seconds), middle-aged men (17.0±8.5 seconds) and women (15.3±5.2 seconds), and older men (15.8±6.7 seconds) and women (17.9±8.1 seconds). The mean maximal lip strengths were: young men (11.6±3.0 kPa) and women (11.4±3.8 kPa), middle-aged men (11.4±4.2 kPa) and women (11.1±5.1 kPa), and older men (14.5±3.9 kPa) and women (11.7±2.6 kPa). The mean lip endurance scores were: young men (41.1±23.9 seconds) and women (22.4±21.7 seconds), middle-aged men (24.3±10.3 seconds) and women (30.5±13.4 seconds), and older men (24.9±11.0 seconds) and women (12.8±7.6 seconds). The mean maximal cheek strengths were: young men (24.5±4.6 kPa) and women (20.5±4.3 kPa), middle-aged men (25.2±6.4 kPa) and women (21.2±5.5 kPa), and older men (22.4±5.3 kPa) and women (18.0±4.8 kPa). The mean cheek endurance scores were: young men (47.8±24.4 seconds) and women (43.9±25.0 seconds), middle-aged men (27.3±11.3 seconds) and women (20.0±14.6 seconds), and older men (21.7±14.5 seconds) and women (17.2±11.4 seconds). CONCLUSION: The data collected in this study will provide an important database of standardized measurements for maximal strength and endurance scores of the tongue, lip and cheek in healthy, normal Koreans.


Asunto(s)
Adulto , Femenino , Humanos , Masculino , Mejilla , Iowa , Labio , Lengua
16.
Med. oral patol. oral cir. bucal (Internet) ; 20(2): e167-e179, mar. 2015. ilus, tab
Artículo en Inglés | IBECS (España) | ID: ibc-134129

RESUMEN

OBJECTIVES: Early detection and treatment of an oral squamous cell carcinoma (OSCC) is critical because of its rapid growth, frequent lymph-node metastasis, and poor prognosis. However, no clinically-valuable methods of early diagnosis exist, and genetic analysis of OSCCs has yielded no biomarkers. Study DESIGN: We investigated the expression of genes associated with inflammation in OSCCs via a quantitative reverse transcriptase polymerase chain reaction (qRT-PCR) analysis of microarray data. Tumor and normal tissues from five patients with an OSCC were used for microarray analysis. Differentially-expressed genes, identified using permutation, local pooled error (LPE), t-tests, and significance analysis of microarrays (SAM), were selected as candidate genetic markers. RESULTS: Two groups corresponding to tissue identity were evident, implying that their differentially-expressed genes represented biological differences between tissues. Fifteen genes were identified using the Student's pairedt-test (p < 0.05) and the SAM, with a false discovery rate of less than 0.02. Based on gene expression, these 15genes can be used to classify an OSCC. A genetic analysis of functional networks and ontologies, validated by using a qRT-PCR analysis of the tissue samples, identified four genes, ADAM15, CDC7, IL12RB2 and TNFRSF8,that demonstrated excellent concordance with the microarray data. CONCLUSIONS: Our study demonstrated that four genes (ADAM15, CDC7, IL12RB2 and TNFRSF8) had potential as novel biomarkers for the diagnosis and the treatment of an OSCC


Asunto(s)
Humanos , Carcinoma de Células Escamosas/patología , Tumor Odontogénico Escamoso/patología , Neoplasias de la Boca/patología , Biomarcadores de Tumor/análisis , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa/métodos , Expresión Génica
17.
Artículo en Inglés | WPRIM | ID: wpr-210252

RESUMEN

OBJECTIVES: The purpose of this article is to evaluate factors influencing prognosis of arthrocentesis in patients with temporomandibular joint (TMJ) disorder. MATERIALS AND METHODS: The subjects included 145 patients treated with arthrocentesis at the Dental Center of Ajou University Hospital from 2011 to 2013 for the purpose of recovering mouth opening limitation (MOL) and pain relief. Prognosis of arthrocentesis was evaluated 1 month after the operation. Improvement on MOL was defined as an increase from below 30 mm (MOL or =40 mm), and pain relief was defined as when a group with TMJ pain with a visual analog scale (VAS) score of 4 or more (VAS > or =4) decreased to a score of 3 or more. The success of arthrocentesis was determined when either mouth opening improved or pain relief was fulfilled. To determine the factors influencing the success of arthrocentesis, the patients were classified by age, gender, diagnosis group (the anterior disc displacement without reduction group, the anterior disc displacement with reduction group, or other TMJ disorders group), time of onset and oral habits (clenching, bruxism) to investigate the correlations between these factors and prognosis. RESULTS: One hundred twenty out of 145 patients who underwent arthrocentesis (83.4%) were found to be successful. Among the influencing factors mentioned above, age, diagnosis and time of onset had no statistically significant correlation with the success of arthrocentesis. However, a group of patients in their fifties showed a lower success rate (ANOVA P=0.053) and the success rate of the group with oral habits was 71% (Pearson's chi-square test P=0.035). CONCLUSION: From this study, we find that factors influencing the success of arthrocentesis include age and oral habits. We also conclude that arthrocentesis is effective in treating mouth opening symptoms and for pain relief.


Asunto(s)
Humanos , Diagnóstico , Boca , Pronóstico , Articulación Temporomandibular , Trastornos de la Articulación Temporomandibular , Escala Visual Analógica
18.
Artículo en Inglés | WPRIM | ID: wpr-88298

RESUMEN

OBJECTIVES: Infererior alveolar nerve (IAN) damage may be one of the distressing complications occurring during implant placement. Because of nature of closed injury, a large proportion is approached non-invasively. The purpose of this study was to analyze the outcomes of conservative management of the injured nerve during dental implant procedure. MATERIALS AND METHODS: Sixty-four patients of implant related IAN injury, who were managed by medication or observation from January 1997 to March 2007 at the Department of Oral and Maxillofacial Surgery, Seoul National University Dental Hospital, were retrospectively investigated. The objective tests and subjective evaluations were performed to evaluate the degree of damage and duration of sensory disturbance recovery. Tests were performed on the day of the first visit and every two months afterward. Patient's initial symptoms, proximity of the implant to the IAN, time interval between implant surgery and the first visit to our clinic, and treatment after implant surgery were analyzed to determine whether these factors affected the final outcomes. RESULTS: Among the 64 patients, 23 had a chief complaint of sensory disturbance and others with dysesthesia. The mean time until first visit to our hospital after the injury was 10.9 months.One year after nerve injury, the sensation was improved in 9 patients, whereas not improved in 38 patients, even 4 patients experienced deterioration. Better prognosis was observed in the group of patients with early visits and with implants placed or managed not too close to the IAN. CONCLUSION: Nearly 70% of patients with IAN injury during implant placement showed no improvement in sensation or dysesthesia with the conservative management. Earlier decision for active treatment needs to be considered because of possibility of deterioration of symptoms and unsatisfactory recovery.


Asunto(s)
Humanos , Implantes Dentales , Nervio Mandibular , Parestesia , Pronóstico , Estudios Retrospectivos , Sensación , Cirugía Bucal , Nervio Trigémino
19.
Artículo en Coreano | WPRIM | ID: wpr-785238

RESUMEN

0.05).CONCLUSION: The results of the present study suggests that surgical intervention is good choice against the conservative treatment, after proper drug holidays period, while further investigation is needed for a definite solution to BRONJ.


Asunto(s)
Humanos , Antibacterianos , Osteonecrosis de los Maxilares Asociada a Difosfonatos , Desbridamiento , Odontología , Estudios de Seguimiento , Vacaciones y Feriados , Maxilares , Boca , Osteonecrosis , Pronóstico , Recurrencia , Supuración
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