ABSTRACT
PURPOSE: The laparoscopic ventral hernia repair (LVHR) may have a limit of effectiveness, especially in defects greater than 80 cm2, with a higher recurrence rate which contraindicates this technique. The purpose of this study is to analyze the indication of LVHR determining and comparing the recurrence rate according to defect size in two series. METHODS: We analyzed all patients who underwent LVHR between 2007 and 2017. Patients were divided according to the ring size: < o ≥ 80 cm2 into group one (G1) and group two (G2) respectively. In both groups, all three techniques were used: intraperitoneal onlay mesh (IPOM), IPOM with closure of the defect (IPOM plus), and IPOM plus + anterior videoscopic component separation (AVCS). RESULTS: A total of 258 patients underwent LVHR. Mean recurrence rate was 13% in G1 and 24% in G2. A statistically significant difference was found when comparing the IPOM technique among both groups, with a higher recurrence rate when ring size was ≥ 80 cm2 (p < 0.5). However, when comparing recurrence rate in IPOM plus and IPOM plus + AVCS between both groups, no significant differences were observed, yielding a p of 0.51 and 0.63, respectively. CONCLUSION: The IPOM technique has shown a limit of effectiveness in large ventral hernia defects. The combination of techniques (ring closure and AVCS) may be useful to expand the indication for this surgery to larger defects and to reduce the recurrence rate. Prospective randomized studies are required to confirm this trend.
Subject(s)
Hernia, Ventral , Herniorrhaphy , Laparoscopy , Hernia, Ventral/surgery , Herniorrhaphy/methods , Humans , Laparoscopy/methods , Prospective Studies , Recurrence , Surgical Mesh , Treatment OutcomeABSTRACT
Antecedentes El papel del virus de la hepatitis B (VHB) como factor de riesgo en la incidencia y progresión de la enfermedad renal crónica (ERC) no ha sido clarificado. Objetivo Evaluamos el impacto producido por la infección con el VHB sobre el riesgo de la ERC en la población general. Material y métodos Llevamos a cabo una revisión sistemática de la literatura médica publicada a fin de evaluar si existe, en la población adulta general, una relación entre la infección por el VHB y un aumento del riesgo de ERC. Adoptamos el modelo de efectos aleatorios de DerSimonian y Laird para proporcionar una estimación resumida del riesgo de ERC (definida por una tasa de filtración glomerular reducida y/o una proteinuria detectable) por infección con el VHB en los estudios publicados. También se realizaron metarregresiones y análisis estratificados. Resultados Recogimos 33 estudios (n=7.849.849 pacientes) publicados en 26 artículos y se realizó un metaanálisis por separado conforme a los resultados. La agrupación de los resultados de los estudios de cohortes (11 estudios, n=1.056.645 pacientes) demostró una relación entre un estatus serológico VHB positivo y el aumento de la incidencia de la ERC, con una estimación resumida para la HR ajustada con VHB en todas las encuestas del 1,40 (IC 95% 1,16-1,69; p<0,001). Se observó heterogeneidad entre estudios (valor Q: 49,5; p<0,0001). En el subconjunto de estudios transversales no se detectó relación entre el VHB y la prevalencia de la ERC (10 estudios; n=3.222.545 pacientes; OR ajustada 1,04; IC 95% 0,90-1,218; p=0,5). Los análisis de metarregresión informaron de una relación entre el estatus HBcAg positivo y la incidencia de ERC en la población general (p<0,015). Conclusiones Parece que la exposición a la infección por VHB está asociada con un aumento en el riesgo de desarrollar ERC en la población adulta general. Se están realizando estudios destinados a comprender los mecanismos responsables de dicha asociación (AU)
Background The activity of hepatitis B virus (HBV) as a risk factor for the incidence and progression of chronic kidney disease (CKD) has not been clarified. Aim We evaluated the impact of infection with HBV on the risk of CKD in the general population. Material and methods We carried out a systematic review of the published medical literature to assess whether a relationship between hepatitis B infection and an increased risk of CKD in the adult general population occurs. We adopted the random effects model of DerSimonian and Laird to provide a summary estimate of the risk of chronic kidney disease (defined by lowered glomerular filtration rate and/or detectable proteinuria) with HBV infection across the published studies. Meta-regression and stratified analyses were also performed. Results We retrieved 33 studies (n=7,849,849 patients) published in 26 different articles, and separate meta-analyses were performed according to the outcome. Pooling results from cohort studies (11 studies, n=1,056,645 patients) demonstrated a relationship between positive HBV serologic status and increased incidence of CKD, the summary estimate for adjusted HR with HBV across the surveys, 1.40 (95% CI, 1.16-1.69) (P<.001). Between-study heterogeneity was noted (Q value, 49.5, P<.0001). No relationship between HBV and prevalence of CKD was noted in the subset of cross-sectional studies (10 studies; n=3,222,545 patients), adjusted OR, 1.04 (95% IC 0.90-1.218; P=.5). Meta-regression analysis reported a relationship between positive HBsAg status and incidence of CKD in the general population (P<.015). Conclusions It appears that exposure to HBV infection seems to be associated with an increased risk of developing CKD in the adult general population. Studies aimed to understand the mechanisms responsible of such association are under way (AU)
Subject(s)
Humans , Renal Insufficiency, Chronic/virology , Hepatitis B, Chronic/complications , Glomerular Filtration Rate , Risk FactorsABSTRACT
BACKGROUND: The activity of hepatitis B virus (HBV) as a risk factor for the incidence and progression of chronic kidney disease (CKD) has not been clarified. AIM: We evaluated the impact of infection with HBV on the risk of CKD in the general population. MATERIAL AND METHODS: We carried out a systematic review of the published medical literature to assess whether a relationship between hepatitis B infection and an increased risk of CKD in the adult general population occurs. We adopted the random effects model of DerSimonian and Laird to provide a summary estimate of the risk of chronic kidney disease (defined by lowered glomerular filtration rate and/or detectable proteinuria) with HBV infection across the published studies. Meta-regression and stratified analyses were also performed. RESULTS: We retrieved 33 studies (n = 7,849,849 patients) published in 26 different articles, and separate meta-analyses were performed according to the outcome. Pooling results from cohort studies (11 studies, n = 1,056,645 patients) demonstrated a relationship between positive HBV serologic status and increased incidence of CKD, the summary estimate for adjusted HR with HBV across the surveys, 1.40 (95% CI, 1.16-1.69) (P < .001). Between-study heterogeneity was noted (Q value, 49.5, P < .0001). No relationship between HBV and prevalence of CKD was noted in the subset of cross-sectional studies (10 studies; n = 3,222,545 patients), adjusted OR, 1.04 (95% IC 0.90-1.218; P = .5). Meta-regression analysis reported a relationship between positive HBsAg status and incidence of CKD in the general population (P < .015). CONCLUSIONS: It appears that exposure to HBV infection seems to be associated with an increased risk of developing CKD in the adult general population. Studies aimed to understand the mechanisms responsible of such association are under way.
Subject(s)
Hepatitis B , Renal Insufficiency, Chronic , Adult , Cross-Sectional Studies , Hepatitis B/complications , Hepatitis B/epidemiology , Hepatitis B virus , Humans , Renal Insufficiency, Chronic/epidemiology , Risk FactorsABSTRACT
BACKGROUND: The activity of hepatitis B virus (HBV) as a risk factor for the incidence and progression of chronic kidney disease (CKD) has not been clarified. AIM: We evaluated the impact of infection with HBV on the risk of CKD in the general population. MATERIAL AND METHODS: We carried out a systematic review of the published medical literature to assess whether a relationship between hepatitis B infection and an increased risk of CKD in the adult general population occurs. We adopted the random effects model of DerSimonian and Laird to provide a summary estimate of the risk of chronic kidney disease (defined by lowered glomerular filtration rate and/or detectable proteinuria) with HBV infection across the published studies. Meta-regression and stratified analyses were also performed. RESULTS: We retrieved 33 studies (n=7,849,849 patients) published in 26 different articles, and separate meta-analyses were performed according to the outcome. Pooling results from cohort studies (11 studies, n=1,056,645 patients) demonstrated a relationship between positive HBV serologic status and increased incidence of CKD, the summary estimate for adjusted HR with HBV across the surveys, 1.40 (95% CI, 1.16-1.69) (P<.001). Between-study heterogeneity was noted (Q value, 49.5, P<.0001). No relationship between HBV and prevalence of CKD was noted in the subset of cross-sectional studies (10 studies; n=3,222,545 patients), adjusted OR, 1.04 (95% IC 0.90-1.218; P=.5). Meta-regression analysis reported a relationship between positive HBsAg status and incidence of CKD in the general population (P<.015). CONCLUSIONS: It appears that exposure to HBV infection seems to be associated with an increased risk of developing CKD in the adult general population. Studies aimed to understand the mechanisms responsible of such association are under way.
ABSTRACT
Leigh syndrome (LS) associated with cytochrome c oxidase (COX) deficiency is an early onset, fatal mitochondrial encephalopathy, leading to multiple neurological failure and eventually death, usually in the first decade of life. Mutations in SURF1, a nuclear gene encoding a mitochondrial protein involved in COX assembly, are among the most common causes of LS. LSSURF1 patients display severe, isolated COX deficiency in all tissues, including cultured fibroblasts and skeletal muscle. Recombinant, constitutive SURF1-/- mice show diffuse COX deficiency, but fail to recapitulate the severity of the human clinical phenotype. Pigs are an attractive alternative model for human diseases, because of their size, as well as metabolic, physiological and genetic similarity to humans. Here, we determined the complete sequence of the swine SURF1 gene, disrupted it in pig primary fibroblast cell lines using both TALENs and CRISPR/Cas9 genome editing systems, before finally generating SURF1-/- and SURF1-/+ pigs by Somatic Cell Nuclear Transfer (SCNT). SURF1-/- pigs were characterized by failure to thrive, muscle weakness and highly reduced life span with elevated perinatal mortality, compared to heterozygous SURF1-/+ and wild type littermates. Surprisingly, no obvious COX deficiency was detected in SURF1-/- tissues, although histochemical analysis revealed the presence of COX deficiency in jejunum villi and total mRNA sequencing (RNAseq) showed that several COX subunit-encoding genes were significantly down-regulated in SURF1-/- skeletal muscles. In addition, neuropathological findings, indicated a delay in central nervous system development of newborn SURF1-/- piglets. Our results suggest a broader role of sSURF1 in mitochondrial bioenergetics.
Subject(s)
Central Nervous System/growth & development , Disease Models, Animal , Leigh Disease/genetics , Membrane Proteins/genetics , Mitochondrial Proteins/genetics , Sus scrofa/genetics , Animals , Animals, Genetically Modified , Animals, Newborn , Behavior, Animal , CRISPR-Cas Systems , Cells, Cultured , Down-Regulation , Electron Transport Complex IV/metabolism , Female , Fibroblasts , Gene Editing , Gene Knockout Techniques , Humans , Jejunum/pathology , Leigh Disease/pathology , Male , Mitochondria/pathology , Muscle, Skeletal/cytology , Muscle, Skeletal/pathology , Nuclear Transfer Techniques , Primary Cell CultureABSTRACT
La glositis romboidal media (GRM) es una alteración benigna, poco frecuente, que afecta ligeramente más a los varones. Suele localizarse en la línea media del dorso de la lengua por delante de la V lingual, en forma de área rojiza, romboidal, de superficie plana, como una mácula o a veces exofítica, mamelonada, que puede sobresalir de 2 a 5 mm y en la que no se observan papilas filiformes. Se presenta el caso clínico de un varón de 50 años de edad que consulta por presentar una lesión en dorso de lengua, situada en la línea media.
Median rhomboid glossitis (MRG) is an uncommon benign abnormality of the tongue, most frequently affecting men. It is typically located around the midline of the dorsum of the tongue, anterior to the lingual V, appearing as a reddish, rhomboid area, depapillated, flat maculate or mamillated and raised by2- 5 mm. This paper reports a case of rhomboid glossitis in a 50-year-old man who consulted for a lesion on the dorsum of the tongue, in a medial location.
Subject(s)
Humans , Male , Middle Aged , Glossitis/diagnosis , Glossitis/therapy , Diagnosis, Differential , Glossitis/etiology , Glossitis/pathologyABSTRACT
The aims of this study were to investigate the rates of deliberate self-harm (DSH) behavior among an Italian adolescent sample, as well as to explore its clinical correlates. On a sample of 234 adolescents in Italian secondary schools (Mean age = 16.47; SD = 1.7) were assessed the DSH as well as externalizing symptoms (including both conduct disorder [CD] and oppositional defiant disorder [ODD] symptoms), borderline personality disorder [BPD] symptoms, dissociative symptoms, and the incidence of life-stressors. Consistent with past research on DSH in youth, 42% of the adolescents in this sample engaged in DSH. Results indicate a positive association between DSH and all psychopathological correlates, including BPD, dissociative, and ODD and CD symptoms. Further, findings revealed an association between DSH and specific life-stressors (i.e., psychological and sexual abuse, natural disasters and serious accidents, the loss of someone important, and the witnessing of family violence or a serious accident).
Subject(s)
Adolescent Behavior/psychology , Self-Injurious Behavior/psychology , Stress, Psychological/psychology , Adolescent , Female , Humans , Italy/epidemiology , Life Change Events , Male , Mental Disorders/epidemiology , Psychiatric Status Rating Scales , Self-Injurious Behavior/epidemiology , Sex Factors , Stress, Psychological/epidemiologyABSTRACT
AIMS: (1) To validate a quantitative real time methylation specific PCR assay (MethyLight) for the detection of O6-methylguanine-DNA methyltransferase (MGMT) gene methylation status (MS) in diffuse large B-cell lymphoma (DLBCL). (2) To determine the immunohistochemical (IHC) expression of the MGMT protein and correlate it with MS. Both IHC and MethyLight results were compared with patient's outcome. METHODS: 71 patients with primary nodal DLBCL were studied. MGMT immunoreactivity was detected using a specific monoclonal antibody. The MS of MGMT gene was analysed in 52/71 DLBCL using MethyLight. A selected subset of 40 DLBCL was also analysed using qualitative methylation-specific PCR (MSP). Statistical analysis of overall survival (OS), lymphoma-specific survival (LSS) and progression free survival (PFS) was performed according to IHC and MS results. RESULTS: 19/71 DLBCLs (27%) were MGMT-negative at IHC; all were analysed, together with 33/52 MGMT-positive DLBCLs. MethyLight showed a better performance than MSP. There was a good correlation between the presence of MGMT expression and the unmethylated status; the absence of IHC expression was poorly correlated with the presence of methylation. Better OS, LSS and PFS was found in DLBCLs with MGMT gene methylation. DLBCLs not expressing MGMT at IHC showed a longer PFS. CONCLUSIONS: The quantitative real-time methylation-specific PCR assay for the detection of MGMT gene hypermethylation has been validated for the first time in DLBCL. Immunohistochemistry seems to represent an useful preliminary test to identify unmethylated cases; MS analysis may be performed in non-immunoreactive cases to identify truly methylated DLBCLs, which bear a better prognosis.
Subject(s)
Biomarkers, Tumor/genetics , DNA Methylation , DNA Modification Methylases/genetics , DNA Repair Enzymes/genetics , Lymphoma, Large B-Cell, Diffuse/genetics , Tumor Suppressor Proteins/genetics , Adult , Aged , Aged, 80 and over , Biomarkers, Tumor/metabolism , Chromosomes, Human, Pair 10/genetics , DNA Modification Methylases/metabolism , DNA Repair Enzymes/metabolism , DNA, Neoplasm/genetics , Female , Humans , In Situ Hybridization, Fluorescence , Lymphoma, Large B-Cell, Diffuse/metabolism , Lymphoma, Large B-Cell, Diffuse/pathology , Male , Middle Aged , Neoplasm Proteins/genetics , Neoplasm Proteins/metabolism , Neoplasm Staging , Polymerase Chain Reaction/methods , Survival Analysis , Tumor Suppressor Proteins/metabolismABSTRACT
Antecedentes: el tratamiento de las eventraciones es todavía motivo de controversia y ha originado nuevas alternativas terapéuticas en la búsqueda de un menor índice de recidiva y morbilidad postoperatoria. Objetivo: comparar el índice de recidiva y morbilidad postoperatoria en una serie de eventroplastías laparoscópicas y convencionales. Lugar de aplicación: Hospital Privado de Comunidad. Diseño: estudio comparativo no randomizado de una base prospectiva de datos. Población: entre junio 1997 y diciembre de 2002 se incluyeron 62 eventroplastías laparoscópicas y 65 eventroplastías convencionales. Criterios de inclusión: cirugía programada, colocación de malla, anillo eventrógeno entre 10 y 150 cm cuadrados, eventroplastía como única cirugía. Método: análisis comparativo entre grupos con distinta vía de abordaje (laparoscópico vs convencional). Se utilizaron test de Student, Z-Test y Chi-cuadrado. Una p < 0,05 se consideró significativa. Resultados: ambos grupos fueron homogéneos en cuanto a características demográficas y del defecto eventrógeno. El tiempo operatorio y de internación fue significativamente mayor en el grupo operado por vía abierta. El índice de morbilidad fue significativamente menor en el grupo abordado por vía laparoscópica. El índice de recidiva fue menor en el grupo laparoscópico, sin presentar diferencias significativas. Conclusión: la eventroplastía laparoscópica demostró ser, en nuestra serie, una técnica efectiva, con un menor índice de morbilidad y un índice de recidiva aceptable en comparación con la técnica convencional
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Hernia, Ventral , Laparoscopy , Postoperative Complications , Prospective Studies , RecurrenceABSTRACT
Antecedentes: el tratamiento de las eventraciones es todavía motivo de controversia y ha originado nuevas alternativas terapéuticas en la búsqueda de un menor índice de recidiva y morbilidad postoperatoria. Objetivo: comparar el índice de recidiva y morbilidad postoperatoria en una serie de eventroplastías laparoscópicas y convencionales. Lugar de aplicación: Hospital Privado de Comunidad. Diseño: estudio comparativo no randomizado de una base prospectiva de datos. Población: entre junio 1997 y diciembre de 2002 se incluyeron 62 eventroplastías laparoscópicas y 65 eventroplastías convencionales. Criterios de inclusión: cirugía programada, colocación de malla, anillo eventrógeno entre 10 y 150 cm cuadrados, eventroplastía como única cirugía. Método: análisis comparativo entre grupos con distinta vía de abordaje (laparoscópico vs convencional). Se utilizaron test de Student, Z-Test y Chi-cuadrado. Una p < 0,05 se consideró significativa. Resultados: ambos grupos fueron homogéneos en cuanto a características demográficas y del defecto eventrógeno. El tiempo operatorio y de internación fue significativamente mayor en el grupo operado por vía abierta. El índice de morbilidad fue significativamente menor en el grupo abordado por vía laparoscópica. El índice de recidiva fue menor en el grupo laparoscópico, sin presentar diferencias significativas. Conclusión: la eventroplastía laparoscópica demostró ser, en nuestra serie, una técnica efectiva, con un menor índice de morbilidad y un índice de recidiva aceptable en comparación con la técnica convencional (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Hernia, Ventral/surgery , Laparoscopy , Prospective Studies , Recurrence , Postoperative ComplicationsABSTRACT
Antecedentes: el tratamiento de las eventraciones es todavía motivo de controversia y ha originado nuevas alternativas terapéuticas en la búsqueda de un menor índice de recidiva y morbilidad postoperatoria. Objetivo: comparar el índice de recidiva y morbilidad postoperatoria en una serie de eventroplastías laparoscópicas y convencionales. Lugar de aplicación: Hospital Privado de Comunidad. Diseño: estudio comparativo no randomizado de una base prospectiva de datos. Población: entre junio 1997 y diciembre de 2002 se incluyeron 62 eventroplastías laparoscópicas y 65 eventroplastías convencionales. Criterios de inclusión: cirugía programada, colocación de malla, anillo eventrógeno entre 10 y 150 cm cuadrados, eventroplastía como única cirugía. Método: análisis comparativo entre grupos con distinta vía de abordaje (laparoscópico vs convencional). Se utilizaron test de Student, Z-Test y Chi-cuadrado. Una p < 0,05 se consideró significativa. Resultados: ambos grupos fueron homogéneos en cuanto a características demográficas y del defecto eventrógeno. El tiempo operatorio y de internación fue significativamente mayor en el grupo operado por vía abierta. El índice de morbilidad fue significativamente menor en el grupo abordado por vía laparoscópica. El índice de recidiva fue menor en el grupo laparoscópico, sin presentar diferencias significativas. Conclusión: la eventroplastía laparoscópica demostró ser, en nuestra serie, una técnica efectiva, con un menor índice de morbilidad y un índice de recidiva aceptable en comparación con la técnica convencional (AU)
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Hernia, Ventral/surgery , Laparoscopy , Prospective Studies , Recurrence , Postoperative ComplicationsABSTRACT
Limited reports are available on quality of life (HRQL) in thyroid diseases, and no data are available in euthyroid disorders, such as goiter and Hashimoto thyroiditis. Also, asymptomatic patients may suffer a reduction in perceived health status due to distress related to physical appearance and awareness of disease. We measured HRQL by means of Medical Outcome Study Short Form-36 (SF-36) and Nottingham Health Profile (NHP) questionnaires in 368 patients (hypothyroid, 81; hyperthyroid, 45 (for both states including overt and subclinical states); Hashimoto thyroiditis, 51; euthyroid goiter, 191). The final scores of the domains were compared with age- and sex-adjusted Italian normative values, by computing the effect size. All domains of SF-36, except bodily pain, were reduced in thyroid disease; this was mainly the case of role limitation (both physical and emotional), general health and social functioning. The domains of NHP were less severely affected. HRQL was impaired also in the absence of altered hormone levels. Mood/behavior disturbances were present in a large proportion of patients and were significantly associated with poor HRQL. HRQL was significantly reduced in patients with thyroid diseases referred to a secondary level endocrinology unit. Perceived health status may be considered as an additional outcome of management and therapy of thyroid disorders.
Subject(s)
Attitude to Health , Quality of Life , Sickness Impact Profile , Thyroid Diseases/physiopathology , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Italy , Logistic Models , Male , Middle Aged , Mood Disorders/complications , Mood Disorders/psychology , Self-Assessment , Surveys and Questionnaires , Thyroid Diseases/classification , Thyroid Diseases/psychologyABSTRACT
OBJECTIVES: To verify whether symptoms reported by patients with uninvestigated dyspepsia might be helpful in either classifying functional from organic dyspepsia (1st experiment), or recognising which Helicobacter pylori infected patients may benefit from eradication therapy (2nd experiment). METHODS: We compared the performance of artificial neural networks and linear discriminant analysis in two experiments on a database including socio-demographic features, past medical history, alarming symptoms, and symptoms at presentation of 860 patients with uninvestigated dyspepsia enrolled in a large observational multi-centre Italian study. RESULTS: In the 1st experiment, the best prediction for organic disease was given by the Sine Net model (specificity of 87.6% with 13 patients misclassified) and the best prediction for functional dyspepsia by the FF Bp model (sensitivity of 83.4% with 56 patients misclassified). The highest global accuracy of linear discriminant analysis was 65.1%, with 150 patients misclassified. In the 2nd experiment, the highest predictive performance was provided by the SelfDASn model: all infected patients who became symptom-free after successful eradicating treatment were correctly classified, whereas nine errors were made in forecasting patients who did not benefit from such a therapy. The highest global performance of linear discriminant analysis was 53.2%, with 37 patients misclassified. CONCLUSIONS: In patients with uninvestigated dyspepsia, artificial neural networks might have potential for categorising those affected by either organic or functional dyspepsia, as well as for identifying all Helicobacter pylori infected dyspeptic patients who will benefit from eradication.
Subject(s)
Artificial Intelligence , Dyspepsia/classification , Dyspepsia/therapy , Helicobacter Infections/therapy , Helicobacter pylori , Neural Networks, Computer , Adolescent , Adult , Aged , Aged, 80 and over , Databases as Topic , Discriminant Analysis , Dyspepsia/diagnosis , Female , Helicobacter Infections/diagnosis , Helicobacter pylori/isolation & purification , Humans , Male , Middle Aged , Models, Statistical , Predictive Value of Tests , Prospective Studies , Sensitivity and Specificity , Surveys and QuestionnairesABSTRACT
PURPOSE: We used conventional cytogenetics, molecular cytogenetics, and molecular genetic analyses to study the pattern of allelic loss on chromosome 6q in a cohort of borderline epithelial ovarian tumors. EXPERIMENTAL DESIGN: Fifteen tumor samples were collected from patients undergoing surgery for ovarian tumors. The tumors of borderline malignancy, classified according to the standard criteria, included 4 mucinous and 11 serous tumors. Cytogenetic and molecular cytogenetic (with yeast artificial chromosome clones from 6q26-27) studies were performed on tumor areas contiguous to those used for histological examination ensuring the appropriate sampling. Moreover loss of heterozygosity analysis was performed using PCR amplification of eight microsatellite markers mapping on 6q27 (D6S193, D6S297), 6q26 (D6S305, D6S415, D6S441), 6q21 (D6S287), 6q16 (D6S311), and 6q14 (D6S300). RESULTS: Deletions of this chromosome arm, in particular of 6q24-27, were the most frequent lesions found in this set of tumors. In a tumor with a normal karyotype the only detectable alteration was a deletion of approximately 300 kb within the D6S149-D6S193 interval at band 6q27. This is, to date, the smallest deletion described for borderline tumors. CONCLUSION: Alterations in the above-mentioned interval are a common finding in advanced ovarian carcinomas but also in benign ovarian cysts, implying that some tumors of borderline malignancy may arise from benign tumors and that malignant ones may evolve from tumors of borderline malignancy. Genes located in 6q27 seem to be crucial for this mechanism of early events in ovarian tumorigenesis.
Subject(s)
Adenocarcinoma, Mucinous/pathology , Chromosome Deletion , Chromosomes, Human, Pair 6/genetics , Cystadenoma, Serous/pathology , Ovarian Neoplasms/pathology , Adenocarcinoma, Mucinous/genetics , Chromosome Banding , Cystadenoma, Serous/genetics , DNA, Neoplasm/genetics , Disease Progression , Female , Humans , In Situ Hybridization, Fluorescence , Karyotyping , Loss of Heterozygosity , Microsatellite Repeats , Ovarian Neoplasms/geneticsABSTRACT
OBJECTIVE: To establish the psychometric properties of the Italian version of two quality of life (QOL) questionnaires in menopausal women: the psychological general well being index (PGWBI) and the women's health questionnaire (WHQ). METHOD: These questionnaires were translated into Italian and then self-administered to out-patient women a first time, 1 week later in stable women to assess reproducibility, and 3 months later to evaluate responsiveness over time. Baseline analyses included: factorial structure, multitrait analysis, internal consistency reliability, and clinical validity. RESULTS: Questionnaires were returned by 155 women (median age: 54 years, median duration of amenorrhoea: 56 months, median Kupperman index 26). Principal component analysis (PCA) of the PGWBI showed an important general factor and then, after rotation, three factors. The PCA of the WHQ showed ten factors. Only five reproduced the dimensions postulated à priori quite well. The item convergent validity was confirmed for all items of the major dimension of the two questionnaires, and the item divergent validity, although acceptable, was less satisfying for the PGWBI than the WHQ. The internal reliability was good (Cronbach's alpha > or = 0.70) for the PGWBI and for nine scales out of ten for the WHQ. The six dimensions of the PGWBI and most of the dimensions of the WHQ were significantly correlated to the Kupperman index, indicating the clinical validity of the instruments. The responsiveness to change in clinical status at 3 months was better in the PGWBI than in the WHQ with moderate effect size (around 0.5). CONCLUSION: The Italian versions of the PGWBI and the WHQ are reliable and useful for HRT clinical trials but the dimensional scores must be calculated bearing in mind the limitations in the structure. Other studies are needed to improve the factorial stability of certain WHQ dimensions. For the Italian version of the PGWBI, the validation process is to be completed by studies of mixed populations suffering from other types of disease.
Subject(s)
Menopause , Quality of Life/psychology , Surveys and Questionnaires/standards , Adult , Aged , Cross-Sectional Studies , Female , Humans , Italy , Middle Aged , Psychometrics , Reproducibility of ResultsABSTRACT
To assess whether early breast lesions are the precursors of invasive carcinomas, three classes of breast lesions, namely benign tumors (including fibroadenomas), putative premalignant lesions (including cases of atypical hyperplasia), and invasive carcinomas, were compared at the cytogenetic and molecular cytogenetic levels. Genetic relatedness was clearly demonstrated by the sharing of several anomalies, among which 6q deletions outnumbered all of the other alterations detected. Indeed, deletions of the long arm of chromosome 6, most likely occurring in epithelial cells, were present in 83.9% of benign breast tumors, 64% of putative premalignant lesions, and 77.4% of analyzable carcinomas. Furthermore, the interval between 6q24 and qter appeared to be the common region of deletion in all three classes of breast lesions, whereas the minimal common region of deletion was 6q27-qter. Interestingly, the latter region was reported previously to be deleted in benign ovarian tumors and recently found to harbor a gene (SEN6) that is important for SV40-mediated immortalization of human cells.
Subject(s)
Breast Neoplasms/genetics , Chromosome Deletion , Chromosomes, Human, Pair 6/genetics , Fibroadenoma/genetics , Precancerous Conditions/genetics , Adolescent , Adult , Aged , Aged, 80 and over , Breast/chemistry , Breast/metabolism , Breast/pathology , Breast Neoplasms/metabolism , Breast Neoplasms/pathology , Carcinoma in Situ/genetics , Carcinoma in Situ/metabolism , Carcinoma in Situ/pathology , Carcinoma, Ductal, Breast/genetics , Carcinoma, Ductal, Breast/metabolism , Carcinoma, Ductal, Breast/pathology , Cytogenetic Analysis , Female , Fibroadenoma/metabolism , Fibroadenoma/pathology , Humans , Immunohistochemistry , In Situ Hybridization, Fluorescence , Karyotyping , Ki-67 Antigen/analysis , Middle Aged , Mitotic Index , Precancerous Conditions/metabolism , Precancerous Conditions/pathologyABSTRACT
Prospective and retrospective studies showed that headaches (migraine and tension-type) with childhood or adolescent onset have age-related characteristics and change over time, with high rate of type changing, remission or improvement. The reasons are unknown. On the other hand, several studies focused on factors that may be precursors of childhood headaches. All these factors may allow a developmental arc to be outlined, defining the natural history of headache from birth to adulthood. Familial (genetic?) influence, hyperreactivity, periodic syndromes and anxiety in childhood are factors that may predict headache onset, against the background of developmental modulation of pain. Biological and psychological factors are probably reciprocally involved, although the link is unclear. The identification of prognostic factors could allow a better framing of headaches and, from an integrated perspective, have important implications as regards clarifying the "nature" of headache.
Subject(s)
Headache/epidemiology , Adolescent , Age Factors , Child , Child, Preschool , Female , Follow-Up Studies , Headache/complications , Headache/genetics , Humans , Infant , Male , Prospective Studies , Retrospective StudiesABSTRACT
Subclinical hypothyroidism is a condition characterized by increased levels of thyroid-stimulating hormone (TSH) associated with normal levels of free triiodothyronine (FT3) and free thyroxine (FT4). The exact prevalence of this condition in Italy is not known. The aim of this study was to assess the presence of subclinical hypothyroidism in 1001 subjects living in the Milan area (age 17-89) and apparently free from thyroid pathology. This sample which had applied to a large laboratory centre (Centro Diagnostico Italiano, Milano) for a routine check-up was seen from April to July 1996. A serum TSH assay was performed using a highly sensitive immunoenzymatic method, while an FT3 and FT4 assay was performed by means of a radioimmunologic method using commercial kits. The prevalence of subclinical hypothyroidism in the total population proved to be 4.7% (95% CI-Confidence Interval: 3.4-6.0). Sex stratification showed a prevalence of 6.1% in females and 3.4% in males. Prevalence in patients up to 65 was 4.2%. This value increased up to 8.0% in subjects over 65. By combining these variables, in females >65 prevalence increased to 11.3%. Overall, symptoms typical of overt hypothyroidism were found in 58.3% of patients suffering from subclinical hypothyroidism and in 39.9% of healthy subjects (p<0.02). The results of this study show that there is a significant presence (about 5%) of subclinical hypothyroidism in this population and that its frequency is more than doubled in women over 65. Early treatment might reduce the progression to overt hypothyroidism. The benefits of such a procedure were recently suggested by a decision making modelling approach applied to the Italian environment.
Subject(s)
Hypothyroidism/epidemiology , Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Hypothyroidism/blood , Italy/epidemiology , Male , Middle Aged , Thyrotropin/blood , Thyroxine/blood , Triiodothyronine/blood , Urban PopulationABSTRACT
BACKGROUND: Microsatellite instability (MSI), caused by a reduced efficacy of the DNA mismatch repair (MMR) machinery, represents a type of genomic instability frequently detected in HNPCC spectrum cancers and in a subset of sporadic carcinomas. The involvement of MSI in the pathogenesis of gastric lymphoma of mucosa-associated lymphoid tissue (MALT) has never been conclusively investigated. In this study, we tested the presence of MSI in tumor samples of patients harboring both MALT lymphomas and other types of malignancies. MATERIALS AND METHODS: We examined 10 microsatellite loci (D3S11, D3S1261, D3S1265, D6S262, D6S193, BAT-26, BAT-25, D17S250, APC, D2S123) out of a total of 34 primary tumors from 14 patients with MALT lymphomas and one or more additional neoplasms. The patients' MSI results were also tested for an association with a positive family history of cancer. RESULTS: MSI, defined by the presence of microsatellite alterations in more than 40% of the examined loci, was scored negative in all tumors studied, and pedigree analysis failed to identify any condition of familial cancer among the patients examined. CONCLUSIONS: The present study suggests that defects in DNA mismatch repair do not contribute significantly to the molecular pathogenesis of MALT lymphomas and associated neoplasms.
Subject(s)
Lymphoma, B-Cell, Marginal Zone/genetics , Microsatellite Repeats , Neoplasms, Multiple Primary/genetics , Stomach Neoplasms/genetics , Colorectal Neoplasms, Hereditary Nonpolyposis/genetics , DNA Repair/genetics , DNA, Neoplasm/genetics , Humans , PedigreeABSTRACT
BACKGROUND: The efficacy of sulphasalazine and mesalazine in preventing relapse in patients with ulcerative colitis is well known. It is less clear how long such maintenance should be continued, and if the duration of disease remission is a factor that affects the risk of recurrence. AIM: To determine whether the duration of disease remission affects the relapse rate, by comparing the efficacy of a delayed-release mesalazine (Asacol, Bracco S.p.A., Milan, Italy) against placebo in patients with ulcerative colitis with short- and long-duration of disease remission. METHODS: 112 patients (66 male, 46 female, mean age 35 years), with intermittent chronic ulcerative colitis in clinical, endoscopic and histological remission with sulphasalazine or mesalazine for at least 1 year, were included in the study. Assuming that a lower duration of remission might be associated with a higher relapse rate, the patients were stratified according to the length of their disease remission, prior to randomization into Group A (Asacol 26, placebo 35) in remission from 1 to 2 years, or Group B (Asacol 28, placebo 23) in remission for over 2 years, median 4 years. Patients were treated daily with oral Asacol 1.2 g vs. placebo, for a follow-up period of 1 year. RESULTS: We employed an intention-to-treat analysis. In Group A, whilst no difference was found between the two treatments after 6 months, mesalazine was significantly more effective than placebo in preventing relapse at 12 months [Asacol 6/26 (23%), placebo 17/35 (49%), P = 0.035, 95% Cl: 48-2.3%]. In contrast, in Group B no statistically significant difference was observed between the two treatments, either at 6 or 12 months [Asacol 5/28 (18%), placebo 6/23 (26%), P = 0.35, 95% Cl: 31-14%] of follow-up. Patients in group B were older, and had the disease and remission duration for longer, than those in Group A. CONCLUSIONS: Mesalazine prophylaxis is necessary for the prevention of relapse by patients with ulcerative colitis in remission for less than 2 years, but this study casts doubt over whether continuous maintenance treatment is necessary in patients with prolonged clinical, endoscopic and histological remission, who are at very low risk of relapse.
