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PubMed1991

Neuropsychologic (cognitive) disabilities in long-term survivors of childhood cancer.

Intelligence and academic achievement testing of long-term survivors of childhood cancer reveal a high incidence of memory deficits, visual-spatial skill impairment, and attention deficit disorders. While the results of various studies must be interpreted carefully, the data available identify CNS irradiation and the toxic synergism of CNS irradiation and intrathecal chemotherapy as primary etiologic factors in the neuropsychologic sequelae of curative therapy. Early education intervention is mandatory to identify survivors of childhood cancer who require assistance in overcoming intellectual disabilities.

Attention Deficit Disorder with Hyperactivity↗

PubMed1990

[Clinico-tactical classification of compression-flexion injuries of the thoracic and lumbar segments of the spine].

In the article is presented classification, which takes into consideration mechanisms and sequence of spinal segment destruction in case of compression-flexion violence. On the basis of experimental and clinical data are shown the stages of destruction and their roentgenologic diagnosis, prognostication of some other damages, which are not detected by common methods. Differentiated curative tactics, taking account of necessary restorative measures in correspondence with stages and resolution types, is given.

Cadaver↗

PubMed1985

[Surgical therapy of Basedow's disease].

The authors, in the light of the data of the literature, study the problem of the surgical treatment of Basedow disease. Besides those who suggest the total thyroidectomy as an ultimately curative intervention, most of surgeons prefer the subtotal thyroidectomy. However, the result of such operation is doubtful as to postoperative hypo- and hyperthyroidism, due to the operativeness of factors of not only biological, but also technical nature. In order to make the therapeutical result as satisfactory as possible, the literature suggests some particular surgical solutions, such as ligature of thyroid artery, limited subtotal thyroidectomy and modified subtotal thyroidectomy, which seem to obtain satisfactory results from the clinical standpoint.

Graves Disease↗

PubMedDate not supplied

[Stomach cancer in the elderly patient].

Gastric cancer is a typical disease of old age, in fact about one half of the patients affect by it are aged over 65. Elderly patients imply a problematical choice of surgical treatment due to the general and specific risk and to life expectancy. In order to evaluate the specific features of gastric cancer in aged people and to share their experience in choosing the surgical treatment, a series of 50 patients with gastric cancer selected on the age > or = 75 years and observed from 1970 to 1993, was reviewed by the authors. Some features have been settled such as sex ratio approaching the unity, a prevalence of tumors located in the distal third of the stomach, the higher incidence of intestinal type and a wide incidence of intestinal type and a wide incidence of patients in III or IV stage. No surgical procedure was undertaken in eleven patients. The remaining 39 patients (78%) underwent a surgical procedure. In 22 patients (56.4) a resection was performed: 17 (77.3%) underwent a subtotal gastric resection, 11 curative and 6 palliative, and 5 (22.7%) a total gastrectomy out of necessity for tumor localization. In 17 patients (43.6%) a bypass procedure was carried out, while in 7 (17.9%) the surgical procedure was a simple laparatomy. Postoperative morbidity incidence was 17.9%, mortality rate 10.2%. Actuarial 5 years survival rate for curative resection was 41.5%. Median survival time was 13 months for patients who underwent a palliative resection and 6 months after bypass procedures. The data suggest that subtotal gastrectomy, also as palliative procedure, fits better to geriatric patients' requirements and is able to offer a satisfactory quality of life, to prevent cancer complications and to determine a longer survival.

Age Factors↗

PubMed1997

Definitive irradiation in the treatment of Hodgkin's disease. Analysis of outcome, prognostic factors, and long-term complications.

BACKGROUND: In the curative treatment of Hodgkin's disease, many institutions give doses above 40 Gray (Gy). To assess the effectiveness of treating patients with 35 Gy, data from a single institution regarding survival, prognostic factors, patterns of failure, and secondary complications were reviewed. METHODS: Data for a total of 172 patients with Hodgkin's disease were reviewed. All patients received definitive irradiation between 1971 and 1994. Median follow-up was 110 months. Kaplan-Meier methods were used to estimate survival, relapse-free survival, and complication rates. RESULTS: Relapse-free survival was 83% at 5 years and 76% at 10 years. The only two prognostic factors related to relapse-free survival were the stage of disease and the number of sites. The involved infield control rate was 96%. The 10-year estimates of hypothyroidism and second malignancies were 14% and 10%, respectively. CONCLUSIONS: Doses of 35 Gy are adequate for treating Hodgkin's disease. The stage of disease and the number of sites are predictive of relapse-free survival. The incidence of late complications necessitates long term surveillance of these patients.

Adolescent↗

PubMed2005

Low Maruyama index surgery for gastric cancer: blinded reanalysis of the Dutch D1-D2 trial.

A quantitative estimate of residual nodal disease after gastric cancer surgery, the Maruyama index of unresected disease (MI), proved to be a strong independent predictor of survival in a large U.S. adjuvant chemoradiation study in which surgical undertreatment was frequent. Data from the Dutch D1-D2 Lymphadenectomy Trial permit an opportunity to assess the prognostic value of this variable in a cohort with lower-stage disease treated with minimum D-1 lymphadenectomy and no adjuvant chemoradiation. Blinded to survival, and excluding those cases with missing information, the MI was calculated for 648 of the original 711 patients treated with curative intent. Survival was assessed by log-rank and multivariate Cox regression analysis. All patients have been followed for a minimum of 11 years. Overall Dutch trial findings were not affected by the absence of 63 cases with incomplete data. As expected, the median MI was 26, much lower than in the previous U.S. study. In contrast to the D level, MI < 5 proved to be a strong predictor of survival by both univariate and multivariate analysis. The MI was an independent predictor of both overall survival [P = 0.016; hazard ratio (HR) = 1.45; 95% confidence interval (CI) 1.07-1.95] and relapse risk (P = 0.010; HR = 1.72; 95% CI 1.14-2.60). A strong dose-response reaction with respect to the MI and survival was also observed. We conclude that in this trial low-MI surgery is associated with enhanced survival, whereas outside of certain subgroups routine D2 lymphadenectomy is not. This observation suggests that surgeons might have more of an impact on patient survival by achieving a low-MI operation than a particular D level. A compelling dose-response effect reveals that the MI is a quantitative yardstick for assessing the adequacy of lymphadenectomy in gastric cancer.

Aged↗

PubMed1996

[Intraoperative and percutaneous radiotherapy of pancreatic carcinoma].

Therapeutic strategies in the treatment of pancreatic carcinoma are based on the high number of non-resectable cancers, the high relative radioresistance and the high distant metastases rate. Even in curatively resected carcinomas, a locally effective treatment modality is needed because of the risk of microscopical residual disease in the peripancreatic tissue. The efficacy of radiotherapy is dose dependent. Based on an analysis of published data a dose of more than 50 Gy is recommended, resulting in a high morbidity rate with external beam radiotherapy alone. The use of intraoperative radiotherapy allows locally restricted dose escalation without increased perioperative morbidity. In adjuvant and in primary treatment, local tumor control was improved (70-90%). With palliative intent, pain relief was obtained rapidly in over 60% of patients and led to improved patient performance. As a result of the high distant metastases rate, even in curatively resected carcinomas, the overall prognosis could not be significantly improved. Further dose escalation is limited by the increasing incidence of upper gastrointestinal bleeding (20-30%).

Combined Modality Therapy↗

PubMed2003

RettBASE: The IRSA MECP2 variation database-a new mutation database in evolution.

Rett syndrome (RTT) is a neurodevelopmental disorder affecting primarily females, with an incidence of around 1 in 15,000 females. In 1999, mutations in the X-linked gene methyl-CpG-binding protein 2 (MECP2) were first reported in RTT subjects, and since that time there have been a number of publications describing cohorts of patients and their mutations. In addition, MECP2 mutations have been reported in patients who do not fit the diagnostic criteria for Rett syndrome. We have developed a new locus-specific database, RettBASE (http://mecp2.chw.edu.au/), loosely based on the PAHdb website. The aim is to obtain data relating to all known instances of MECP2 variations, including published ta and data directly submitted by one of various means (either by using an online submission form, or by sending the same form in Adobe portable document format (pdf) or Microsoft Word format by email or fax to the database curators). The database has a range of query capabilities, allowing for simple or complex interrogation of the database. To address the issue of patient confidentiality, we have incorporated an Excel spreadsheet algorithm that allows the generation of a unique number based on the subject's name and date of birth. We believe this database will prove to be a useful resource, allowing the development of accurate prevalence data for disease-causing mutations, providing a catalog of polymorphisms, and potentially allowing more accurate phenotype-genotype correlations to be drawn.

Chromosomal Proteins, Non-Histone↗

PubMed2005

Doppler perfusion index fails to predict the presence of occult hepatic colorectal metastases.

AIMS: To assess the predictive value of the Doppler perfusion index (DPI) in a cohort of patients with colorectal cancer with and without initial metastatic disease and present the data of at least 4 years follow-up. METHODS: We studied 133 patients admitted with stage I-IV colorectal cancer. In all patients hepatic flow measurements were performed in the week before surgery. All patients who underwent curative surgery on intention were followed up for at least 4 years. RESULTS: Reliable DPI measurements were not possible in 29 patients. Three groups were defined for comparison: (A) 57 patients who remained disease free, (B) 11 patients who presented with metachronous liver metastases during follow-up and (C) 19 patients with liver metastases at initial presentation. No significant difference was found for DPI data between the three groups. There was a trend for a higher hepatic artery flow in patients with initial liver metastases compared to those who remained disease free (p=0.07). The previously reported cut-off point for maximal normal DPI (0.3) did not have any predictive value in this patient cohort. CONCLUSION: The present data do not confirm the usefulness of DPI measurements in daily clinical practice for the early identification of patients with colorectal cancer at high risk for recurrent disease.

Adult↗

PubMed2026

Molecular residual disease assessment in colorectal and bladder cancer by somatic structural variant analysis of cell-free DNA whole-genome sequencing data.

BACKGROUND: Whole-genome sequencing (WGS)-based methods for circulating tumor DNA (ctDNA) detection typically rely on tumor-informed identification of somatic single nucleotide variants (SNVs). Somatic structural variants (SVs) are another type of cancer-specific genomic alteration, which owing to their larger genomic footprint and unique breakpoint junctions, are easier to distinguish from sequencing noise than SNVs. They are, however, rarely used for ctDNA detection because of (1) artifacts from WGS procedures that SV callers may falsely interpret as genuine SVs. This makes it difficult to establish high-confidence SV catalogos from short-read tumor WGS and can cause false-positive ctDNA detections. (2) Lack of robust strategies to quantify SV-supporting reads in plasma WGS. To address these barriers and enable integration of SV biomarkers into WGS-based ctDNA detection, we present a bioinformatic framework for algorithmic curation of somatic SV calls from fresh-frozen and formalin-fixed paraffin-embedded (FFPE) tumors, coupled with a novel approach for sensitive, accurate mapping and quantification of SV breakpoint-supporting reads in plasma WGS. METHODS: Tumor, normal and plasma WGS data from 144 patients with stage III colorectal cancer was used to establish the bioinformatic framework. This included ~30x WGS data from 1564 serially collected plasma samples. The framework was validated using tumor/normal/plasma WGS data from 32 patients with muscle-invasive bladder cancer. SV-based ctDNA detection was benchmarked against previously published SNV-based ctDNA results for the same samples. RESULTS: After curation of SV calls and quantification in plasma WGS, our SV-based approach enabled robust ctDNA detection with overall specificity exceeding 99% in plasma samples. Furthermore, we observed strong concordance (Pearson’s r > 0.93, p < 2.2 × 10− 16) between ctDNA-positive samples identified by our SV-based method and previous SNV-based analyses, validating the reliability of our approach. Finally, we demonstrated application of the method in an independent bladder cancer cohort, highlighting its generalizability and potential clinical use. CONCLUSIONS: We provide a bioinformatic framework that establishes somatic SVs as ultra-specific biomarkers for WGS-based, tumor-informed ctDNA detection. The approach delivers specific detection even when the SV catalogos are established from FFPE samples. The SV framework can stand alone or enhance SNV-based analysis pipelines.

Humans↗

PubMed2001

Database verification studies of SWISS-PROT and GenBank.

PROBLEM STATEMENT: We have studied the relationships among SWISS-PROT, TrEMBL, and GenBank with two goals. First is to determine whether users can reliably identify those proteins in SWISS-PROT whose functions were determined experimentally, as opposed to proteins whose functions were predicted computationally. If this information was present in reasonable quantities, it would allow researchers to decrease the propagation of incorrect function predictions during sequence annotation, and to assemble training sets for developing the next generation of sequence-analysis algorithms. Second is to assess the consistency between translated GenBank sequences and sequences in SWISS-PROT and TrEMBL. RESULTS: (1) Contrary to claims by the SWISS-PROT authors, we conclude that SWISS-PROT does not identify a significant number of experimentally characterized proteins. (2) SWISS-PROT is more incomplete than we expected in that version 38.0 from July 1999 lacks many proteins from the full genomes of important organisms that were sequenced years earlier. (3) Even if we combine SWISS-PROT and TrEMBL, some sequences from the full genomes are missing from the combined dataset. (4) In many cases, translated GenBank genes do not exactly match the corresponding SWISS-PROT sequences, for reasons that include missing or removed methionines, differing translation start positions, individual amino-acid differences, and inclusion of sequence data from multiple sequencing projects. For example, results show that for Escherichia coli, 80.6% of the proteins in the GenBank entry for the complete genome have identical sequence matches with SWISS-PROT/TrEMBL sequences, 13.4% have exact substring matches, and matches for 4.1% can be found using BLAST search; the remaining 2.0% of E.coli protein sequences (most of which are ORFs) have no clear matches to SWISS-PROT/TrEMBL. Although many of these differences can be explained by the complexity of the DB, and by the curation processes used to create it, the scale of the differences is notable.

Algorithms↗

PubMed2003

Clinical and psychometric validation of an EORTC questionnaire module, the EORTC QLQ-OES18, to assess quality of life in patients with oesophageal cancer.

Quality of life (QOL) assessment requires clinically relevant questionnaires that yield accurate data. This study defined measurement properties and the clinical validity of the European Organisation for Research and Treatment of Cancer (EORTC) questionnaire module to assess QOL in oesophageal cancer. The oesophageal module the QLQ-OES24 and core questionnaire, the Quality of Life-Core 30 questionnaire (QLQ-C30) was administered patients undergoing treatment with curative (n=267) or palliative intent (n=224) and second assessments performed 3 months or 3 weeks later respectively. Psychometric tests examined scales and measurement properties of the module. Questionnaires were well accepted, compliance rates were high and less than 2% of items had missing data. Multi-trait scaling analyses and face validity refined the module to four scales and six single items (QLQ-OES18). Selective scales distinguished between clinically distinct groups of patients and demonstrated treatment-induced changes over time. The EORTC QLQ-OES18 demonstrates good psychometric and clinical validity. It is recommended for use with the core questionnaire, the QLQ-C30, to assess QOL in patients with oesophageal cancer.

Adenocarcinoma↗

PubMed2005

Feasibility of chemoradiation therapy with protracted infusion of 5-fluorouracil for esophageal cancer patients not suitable for cisplatin.

BACKGROUND: Chemoradiation therapy is the standard treatment for esophageal cancer in patients not fit for surgery. The regimen most commonly used includes cisplatin and 5-fluorouracil. Little data exists regarding alternative chemotherapy regimens in patients not suitable for cisplatin. We report on a regimen using protracted infusion 5-fluorouracil alone for both curative and palliative indications. METHODS: Twenty-two patients with localized esophageal cancer suitable for curative chemoradiation therapy and 24 patients suitable for palliative therapy were enrolled. Chemotherapy consisted of 5-fluorouracil 225 mg/m(2) daily throughout the radiation therapy. The radiation dose was 56 to 60 Gy in 28 to 30 fractions (curative patients) and 30 to 35 Gy in 15 fractions (palliative patients). RESULTS: The median age of the patients was 75 years. The regimen was tolerable. Significant grade 3 toxicities experienced were esophagitis (11%) and venous catheter toxicity (9%). The median survival was 17 months for curative patients and 9 months for palliative patients. The complete response rate was 86% endoscopically and 45% radiologically for curative patients. Relief of dysphagia was experienced in 67% of palliative patients. Quality of life was satisfactory in both groups. CONCLUSIONS: This study showed that continuous-infusion 5-fluorouracil given concurrently with radiation therapy is a useful alternative to platinum-based chemoradiation therapy in patients with esophageal carcinoma.

Adenocarcinoma↗

PubMed1984

Granular cell myoblastoma of the extrahepatic biliary system.

We have reported our experience with two cases of granular cell myoblastoma, bringing the total number of cases to 29. Granular cell myoblastoma of the extrahepatic biliary system is a rare benign tumor that affects black women predominantly. Both black men in this study had multiple lesions involving the skin and biliary system. Surgery is necessary for tissue diagnosis and curative resection. Tumors involving the common bile duct or common hepatic duct require wide local excision and bilioenteric anastomosis. The cause is uncertain, but present data indicate a neuroectoderm origin.

Adult↗

PubMed2006

Percutaneous abscess drainage in the UK: A national survey and single centre study.

AIM: To establish the current practice for management of radiologically placed percutaneous drains for abdominal sepsis in the UK and prospectively study the management of radiologically placed drains at our institution. METHOD: A questionnaire on the management of radiologically placed drains was sent to all radiology departments on a Royal College of Radiologists database. We prospectively followed all drains placed by our radiology department for drainage of abdominal collections, over a 7-month period. RESULTS: A total of 210 questionnaires were sent for the national survey, of these 117 were returned (55.7%). The majority of departments (70.5%) reported that after drain insertion the clinical team took over daily management. Just over 5% of departments either formally managed the drain or obtained final outcome data. From October 2003 to April 2004 we followed 63 consecutive drains placed in 45 patients, for abdominal sepsis. Thirty-nine drains (61.9%) were curative and 17 (26.9%) drains failed. Three drains (4.8%) were placed for palliation, and four drains (6.4%) were placed in order to temporise prior to surgery. Forty-three (68.3%) drains had a successful primary outcome: success after secondary percutaneous abscess drainage (PAD) improved to 46 (73.0%) drains. Two (3%) major complications occurred. CONCLUSIONS: The current approach in the UK to management of radiologically placed drains differs significantly from that practised in the USA. The most common type of support offered by radiology departments in the UK is of informal advice and follow-up, with the clinical team managing the patient's drain. Observations in our hospital highlighted problems relating to drain management that may impact on the success of PAD. We suggest that more formal radiological support after PAD would improve communication and potentially improve outcomes.

Abdominal Abscess↗

PubMed2004

Regional differences in lung radiosensitivity after radiotherapy for non-small-cell lung cancer.

PURPOSE: To study regional differences in lung radiosensitivity by evaluating the incidence of radiation pneumonitis (RP) in relation to regional dose distributions. METHODS AND MATERIALS: Registered chest CT and single photon emission CT lung perfusion scans were obtained in 106 patients before curative or radical radiotherapy for non-small-cell lung cancer. The mean lung dose (MLD) was calculated. The single photon-emission CT perfusion data were used to weigh the MLD with perfusion, resulting in the mean perfusion-weighted lung dose. In addition, the lungs were geometrically divided into different subvolumes. The mean regional dose (MRD) for each region was calculated and weighted with the perfusion of each region to obtain the mean perfusion-weighted regional dose. RP was defined as respiratory symptoms requiring steroids. The incidence of RP for patients with tumors in a specific subvolume was calculated. The normal tissue complication probability (NTCP) parameter values for the TD(50), and an offset NTCP parameter for tumor location were fitted for both lungs and for each lung subvolume to the observed data using maximum likelihood analysis. RESULTS: The incidence of RP correlated significantly with the MLD and MRD of the posterior, caudal, ipsilateral, central, and peripheral lung subvolumes (p between 0.05 and 0.002); no correlation was seen for the anterior, cranial, and contralateral regions Similarly, a statistically significant correlation was observed between the incidence of RP and the perfusion-weighted MLD and perfusion-weighted MRD for all regions, except the anterior lung region. For this region, the dose-effect relation improved remarkably after weighting the local dose with the local perfusion. A statistically significant difference (p = 0.01) in the incidence of RP was found between patients with cranial and caudal tumors (11% and 40%, respectively). Therefore, a dose-independent offset NTCP parameter for caudal tumors was included in the NTCP model, improving most correlations significantly, confirming that patients with caudal tumors have a greater probability of developing RP. CONCLUSION: The incidence of RP correlated significantly with the MLD and MRD of most lung regions, except for the anterior, cranial, and contralateral regions. Weighting the local dose with the local perfusion improved the dose-effect relation for the anterior lung region. Irradiation of caudally located lung tumors resulted in a greater risk of RP than irradiation of tumors located in other parts of the lungs.

Adult↗

PubMed2006

Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down.

A mounting number of inherited human disorders, including Huntington disease, myotonic dystrophy, fragile X syndrome, Friedreich ataxia and several spinocerebellar ataxias, have been associated with the expansion of unstable simple sequence DNA repeats. Despite a similar genetic basis, pathogenesis in these disorders is mediated by a variety of both loss and gain of function pathways. Thus, therapies targeted at downstream pathology are likely to be disease specific. Characteristically, disease-associated expanded alleles in these disorders are highly unstable in the germline and somatic cells, with a tendency towards further expansion. Whereas germline expansion accounts for the phenomenon of anticipation, tissue-specific, age-dependent somatic expansion may contribute towards the tissue-specificity and progressive nature of the symptoms. Thus, somatic expansion presents as a novel therapeutic target in these disorders. Suppression of somatic expansion should be therapeutically beneficial, whilst reductions in repeat length could be curative. It is well established that both cis- and trans-acting genetic modifiers play key roles in the control of repeat dynamics. Importantly, recent data have revealed that expanded CAG.CTG repeats are also sensitive to a variety of trans-acting chemical modifiers. These data provide an exciting proof of principle that drug induced suppression of somatic expansion might indeed be feasible. Moreover, as our understanding of the mechanism of expansion is refined more rational approaches to chemical intervention in the expansion pathway can be envisioned. For instance, the demonstration that expansion of CAG.CTG repeats is dependent on the Msh2, Msh3 and Pms2 genes, highlights components of the DNA mismatch repair pathway as therapeutic targets. In addition to potential therapeutic applications, the response of expanded simple repeats to genotoxic assault suggests such sequences could also have utility as bio-monitors of environmentally induced genetic damage in the soma.

Aging↗

PubMed1996

Time to second prostate-specific antigen failure is a surrogate endpoint for prostate cancer death in a prospective trial of therapy for localized disease.

OBJECTIVES: The most relevant endpoint in comparing the efficacy of curative therapies for prostate cancer is cancer-specific death. Prospective trials need to mature for a least a decade to yield meaningful cancer death data due to the long natural history of the disease amd the use of salvage androgen suppression. This delay may be long enough that the tested treatments are outdated by the time of reporting; thus, there is a need for reliable early surrogate endpoints for cancer survival. METHODS: This report evaluates 202 patients entered into a single institution prospective randomized study for T3-4 prostate cancer. Patients were accrued between 1982 and 1992 and received radical irradiation to either a standard dose of 67.2 Gy or a higher dose of 75.6 Gy. Median follow-up was 5.4 years. A total 76 men have received androgen suppression or orchiectomy for salvage following relapse. Of this group, 35 experienced a second relapse heralded by a rise in the serum prostate-specific antigen (PSA). RESULTS: The median survival from the time of second biochemical relapse (defined as a progression with a rise in serum PSA more than 10% above the nadir after androgen suppression) was 27 months. Kaplan-Meier analysis projected a 0% survival for this group at 4 years. All those dying after second biochemical failure died of the prostate cancer. CONCLUSIONS: Second PSA failure (or PSA progression on hormonal therapy) has potential as a surrogate for impending cancer death and its use as an endpoint in prospective studies could allow earlier reporting by 2 to 4 years.

Actuarial Analysis↗