bluuebunny/crossref_metadata_2025_split huggingface dataset:
Voices of Parents of Children with Neurofibromatosis 1(NF)
Authors: Dylis Ann M. 
Published: May 2006

This presentation, phase I of an American Nurses’ Foundation funded study, is based on unanalyzed qualitative data from a prior study (Dylis, 2003) exploring family functioning in a large international sample of parents of children with Neurofibromatosis 1 (NF), the most common single gene disorder involving the nervous system. The purpose of this study was to identify themes from parental responses to two questions: ‘What do parents of children with NF want from health care providers?’ and ‘What were parental experiences at the initial time of their child’s NF diagnosis.’Preliminary content analysis themes included parental desires for provider sensitivity and for providers to provide holistic care, accurate information, appropriate communication, referrals, support, and respect. Diagnostic experience themes were symptom management based on the NF diagnostic criteria or specific system manifestations, expressed concern from others resulting in health care intervention, and stories of diagnostic delays, inaccuracies, and dismissal of parental knowledge.The results from this phase might provide beginning qualitative evidence to assist in the future development of individualized nursing interventions aimed at improving the quality of life for families having a member(s) with NF. Knowledge of parental differences and similarities is essential in developing these interventions.
Prevalence and Burden of Disease in Hemochromatosis: Estimates Derived from Routine Data
Authors: Patch Christine , Roderick Paul , Rosenberg William 
Published: May 2006

Since the discovery of the common mutation linked to hereditary hemochromatosis there has been a debate about the clinical morbidity associated with this condition. In the UK, Hospital Episode Statistics (HES) data provide information on patient care delivered by all NHS hospitals and trusts in England from 1989. Data were obtained for episodes with hemochromatosis as any diagnosis for six years (1997–2003).Descriptive analyzes of the data were performed. Using estimates derived from the data and mortality statistics a life table approach estimated the probability by age of not having a first episode of care related to hemochromatosis in homozygotes (as a proxy for penetrance).The number of patients with hemochromatosis increased with more males than females. The average age for males was 55, for females 57. Patients are still presenting with other diagnoses associated with hemochromatosis. The lifetime estimates from the life table were 9% of the male population of homozygotes and 4% of the female would have an episode of care related to hemochromatosis.An increasing number of patients are being treated for hemochromatosis although the total numbers remains small. Patients are still presenting with preventable complications suggesting that there remains scope for improvements in case detection strategies.
Feasibility and Acceptability of Providing Nurse Counsellor Genetics Clinics in Primary Care
Authors: Westwood Greta 
Published: May 2006

Increasing referrals to specialist genetics services have precipitated a review of models of service delivery in the United Kingdom. Little is known about whether a change in clinic location is feasible or acceptable for the patients seen. We consider the feasibility of genetics service development and delivery in primary care and develop a questionnaire to evaluate acceptability and cost to patients.Between July 2003 and May 2004, 64 primary care appointments with a genetics nurse counsellor were offered to patients referred and registered with selected general practices. 45 (79%) patients attended their appointment and 34 (77%) returned their follow‐up questionnaire. Total mean satisfaction score was high and patients were most satisfied with the information and affective domains of the appointment. 48% of patients seen by the genetics nurse counselor remained in primary care. Patients were satisfied with the travel time and distance to clinic and patient clinic costs were limited. This study shows that patients do attend genetics nurse counselor clinics in primary care, and are satisfied with the new location. A large cluster randomized controlled trial is now being conducted to obtain a controlled comparison of acceptability to patients of attending clinics in primary vs. secondary care settings.
Demystifying Online Genetic Databases
Authors: Driscoll Carolyn , Cashion Anne , Conley Yvette , Homayouni Ramin , Xu Lijing 
Published: May 2006

There has been an explosion of genetic information and keeping current can be difficult. Traditional methods for obtaining information may be obsolete. Many sources for genetic information are now found on the internet although they may be confusing to navigate and interpret. The purpose of this presentation is to outline commonly used genetic databases, and demonstrate how they may be accessed and used to interpret genetic data.The mission of the National Center for Biotechnology Information (NCBI), a resource for molecular biology information, is to develop new information technologies to support understanding of molecular and genetic processes related to health and disease. NCBI services include PubMed, Nucleotide, and the BLAST algorithm for sequence comparison. In this presentation, several genetic databases will be explored. Each database will be defined, the available genetic information described, database access demonstrated, and website information displayed. This presentation will provide education related to several genetic databases as a means of facilitating and promoting access to this information by a larger audience of nurses and health care providers involved with genetic health care.
Long‐term, health‐related, quality of life comparison in patients undergoing single stage vs staged resection for complicated diverticular disease
Authors: Constantinides V. A. , Aydin H. N. , Tekkis P. P. , Fazio V. W. , Heriot A. G. , Remzi F. H. 
Published: May 2006

AbstractObjective  To evaluate long‐term health‐related quality of life, for single‐staged and staged resections following reversal, for complicated diverticular disease.Patients and methods  Between 1981 and 2003, 188 patients undergoing single stage (n = 158) or staged resection (n = 30) completed the SF‐36 questionnaire. Health‐related quality of life (HRQL) was compared between the two groups and the US normal population based on the eight domains of the SF‐36. HRQL analysis was also performed at various time intervals. The effect of age and postoperative complications on HRQL was also determined. Functional and postoperative outcomes were also assessed.Results  The single and staged resection groups differed in the presence of comorbidity, degree of peritoneal contamination and operative urgency. No difference in functional outcomes or HRQL was found, even after analysing time‐interval subgroups. Social functioning and general health was substantially worse in both groups when compared to US norms. Ageing was found to significantly reduce physical functioning (P < 0.001) and physical and emotional role limitations (P < 0.001 for both). Post‐operative complications significantly reduced scores when compared to patients without complications, for physical functioning (63.57 vs 78.7, respectively; P < 0.001), physical role limitation (80.65 vs 86.9, respectively; P < 0.001) and bodily pain (66.67 vs 74.81, respectively; P < 0.01).Conclusions  No significant difference in long‐term HRQL was found in patients undergoing single staged or staged resection for complicated diverticular disease. There was significant impact of ageing and postoperative complications on physical health. Prospective studies that include pre‐operative data on HRQL are required to compare the two operative techniques, with emphasis on quality of life of patients left with a permanent stoma.
Low anterior resection with total mesorectal excision for rectal cancer: functional assessment and factors affecting outcome
Authors: Kakodkar R. , Gupta S. , Nundy S. 
Published: May 2006

AbstractObjective  Many patients experience disordered defaecation after low anterior resection of the rectum (LARR). We analysed the anorectal function of these patients to determine which factors might contribute to this problem.Patients and methods  Between November 2002 and January 2004, 18 consecutive patients (11 males and 7 females) who underwent LARR with total mesorectal excision (TME) for rectal cancer were assessed by anorectal manometry, balloon proctometry and the Wexner continence questionnaire before operation and at 6 months and 1 year following stoma closure. Sixteen volunteers (11 males and 5 females) were evaluated for comparison. Stepwise logistic regression was performed for variables that were highly significant at univariate analysis.Results  The mean daily preoperative stool frequency was 2, mean basal pressure (MBP) 43.12 cm H2O, maximum threshold volume (MTV) 181.8 ml, length of high‐pressure zone (HPZ) 3.11 cm and the rectoanal inhibitory reflex (RAIR) was present in all the patients. Twelve months after stoma closure, the stool frequency was 3.3, MBP 37.7 cm H2O, MTV 146.3 ml, length of HPZ 2.88 cm and Wexner score 4.37. Comparing patients having a good anorectal function (Wexner score ≥ 5) with those having an unsatisfactory function, we found that, on multivariate analysis, the factors that independently contributed to a poor outcome at 12 months after operation were the absence of RAIR as well as an MTV and HPZ below the fifth percentile of normal individuals.Conclusions  Many patients undergoing LARR with TME for rectal cancer experience an anterior resection syndrome that persists for at least 1 year. Those with no RAIR and subnormal MTV and HPZ lengths can be predicted to have an unsatisfactory outcome.
Safety of bowel resection for colorectal surgical emergency in the elderly
Authors: Pavlidis T. E. , Marakis G. , Ballas K. , Rafailidis S. , Psarras K. , Pissas D. , Papanicolaou K. , Sakantamis A. 
Published: May 2006

AbstractObjective  Colorectal emergency requiring radical surgery is becoming increasingly frequent in the elderly and problems remain as regards the best management policy. Our long‐time experience is presented in this study.Patients and methods  In the last 23 years, 105 elderly patients, aged ≥ 65 years, with colorectal disease underwent an emergency operation in our Surgical Department. Forty‐five patients (mean age 72 years) had benign disease and 60 patients (mean age 76.5 years) colorectal carcinoma.Results  The carcinoma was located in the left colon (68%), right colon (18%) and rectum (14%). Mostly, patients with malignant cancer presented with obstructive ileus, and patients with benign tumours with perforation and peritonitis, with a predominance of diverticulitis. A resection operation either with primary anastomosis or Hartmann's procedure was performed in 75% of cases; in the rest, only palliation was resorted to. Forty‐three per cent of the patients with colorectal cancer emergency were ≥80 years of age. The mean morbidity was 25% and mortality 17%, which make up to 33% and 26.6% for benign disease, and 20% and 10% for malignant cancer, respectively. The mortality rate was higher in patients with perforation than those with obstruction.Conclusion  Advanced age is not a contraindication to radical surgery in case of colorectal emergency in the elderly. In the majority, a resection operation is feasible. In high‐risk patients, colostomy is a life‐saving alternative.
Surgery for neoplastic changes in ulcerative colitis – can limited resection be justified? Outcome for patients who underwent limited surgery
Authors: Lindberg J. , Stenling R. , Palmqvist R. , Rutegård J. 
Published: May 2006

AbstractBackground  Patients with ulcerative colitis (UC) are at an increased risk of developing colorectal cancer (CRC). The aim of this study was to investigate the outcome for the patients who underwent limited resection of the colon and/or rectum instead of panproctocolectomy (PPC), with special attention to those with neoplastic changes.Methods  Since 1977, all known patients with UC from our catchment area have been included in our surveillance programme. A total of 210 patients with UC have been followed up with regular colonoscopies and biopsies. Indications for surgery were severe therapy‐resistant disease (TRD), high‐grade dysplasia (HGD), CRC or repeated findings of low‐grade dysplasia (LGD). Patient compliance was excellent.Results  Fifty‐one patients were operated on. In 29 of these patients, PPC was performed initially. At the end‐point of the study, additionally seven patients had been radically operated on and three more patients planned to undergo such an operation. Accordingly, 22 patients had their first operation performed as a resection of either a part of or the whole colon or rectum. In this group, there were four patients diagnosed with CRC and three with dysplasia‐associated lesion or mass (DALM). One of them died 6 months after surgery because of disseminated CRC, whereas the other patients were alive at the end‐point of the study. One of these seven patients with CRC or DALM had at end‐point been radically operated on and two patients were awaiting such a procedure (in two patients because of LGD and in one patient because of TRD). Six of the patients who had a colorectal resection performed on the indication of TRD were radically operated later on, five of them because of relapsed TRD and one patient because of LGD in the remaining rectal mucosa. Twenty‐one patients gained a mean of 9.4 years with presumably better bowel function, from undergoing a limited resection instead of PPC. None of the patients who underwent a colonic and/or rectal resection died because of CRC or metachronous cancer in their remaining colon or rectum.Conclusion  The results of this study indicate that a limited resection of the colon and/or rectum in patients with UC, which requires surgical intervention increases the time with presumably better bowel function and may therefore be an alternative to PPC without increased risk of dying from CRC. This is dependent on the flexibility of the medical service and patient compliance.
The incidence of anastomotic leaks in patients undergoing colorectal surgery
Authors: Platell C. , Barwood N. , Dorfmann G. , Makin G. 
Published: May 2006

AbstractBackground  There is evolving interest in auditing and credentialling the performance of surgeons. The incidence of anastomotic leakage has been proposed as a measure of performance following colorectal surgery. The aim of this study was to evaluate the incidence and risk factors associated with anastomotic leakage in patients undergoing resections of the colon and rectum.Methods  A prospective database was developed for all patients undergoing colorectal surgery. Anastomotic leakage was defined prior to the commencement of the study. A logistic regression analysis was performed to determine independent predictors of leakage. The variables analysed included age, sex, American Society of Anesthesiology (ASA) score, anatomical location, pathology, emergency surgery, type of anastomosis, a covering stoma and radiotherapy. Significance was defined as the probability of a type 1 error of < 5%. The results are presented as odds ratios (ORs) and 95% confidence intervals (95% CIs).Results  There were 1598 patients who underwent 1639 anastomoses. Their mean age was 63 years, 34% of patients were ASA 3 or 4, and 16% of the operations were emergencies. Anastomotic leaks occurred in 2.4% (40/1639) of anastomoses. The leak rate for intraperitoneal anastomoses was 1.5% (19/1283) vs 6.6% for extraperitoneal anastomoses (21/316). Half of these leaks (20/40) were managed with re‐operation or percutaneous drainage procedures. Ultra‐low anterior resections were associated with the highest leak rate (8%, 18/225). A logistic regression analysis identified a covering stoma (P = 0.0001, OR 5.078, 95% CI 2.527–10.23) and diverticular disease (P = 0.037, OR 2.304, 95% CI 1.053–5.042) as independent predictors of a leak.Conclusions  Within this surgical unit, the incidence of leaks from intraabdominal anastomoses was relatively low. However, leaks in patients undergoing extraperitoneal anastomoses continue to be a major cause of morbidity and mortality.
IDF and ATP‐III definitions of metabolic syndrome in the prediction of all‐cause mortality in type 2 diabetic patients
Authors: Monami M. , Marchionni N. , Masotti G. , Mannucci E. 
Published: May 2006

Aim:  The metabolic syndrome (MS) is associated with increased cardiovascular morbidity and mortality. Recently, the International Diabetes Federation (IDF) proposed to lower diagnostic thresholds for fasting glucose and waist circumference and to limit the diagnosis of MS only to subjects with abdominal adiposity. The aim of the present study was to assess the prognostic value of IDF criteria in diabetic patients, in comparison with previous ATP‐III criteria.Methods:  An observational cohort study was performed on a consecutive series of 882 Caucasian type 2 diabetic outpatients, aged 65.3 ± 10.9 years, with a duration of diabetes of 13.1 ± 10.6 years. Information on 3‐year all‐cause mortality was obtained by the City of Florence Registry Office.Results:  The prevalence of MS was 68.4 and 73.7% using ATP‐III and IDF criteria, respectively. Over the follow‐up period, 115 (13.6%) deaths were recorded. Patients with ATP‐III‐defined MS showed a significantly higher mortality rate when compared with the rest of the sample (16.1% vs. 8.2%; p = 0.002), whereas a non‐significant trend was observed using IDF classification (14.9% vs. 10.0%, p = 0.064). At Cox regression analysis, after adjustment for sex, age, and its individual components, diagnosis of MS with ATP‐III criteria, but not with IDF criteria [OR (95% CI) 1.65 (0.99–2.72), p = 0.053], was significantly associated with higher mortality [OR (95%,CI) 2.38 [1.18–4.76]).Conclusion:  In conclusion, in Caucasian type 2 diabetic patients the application of IDF criteria determines an increase of estimated prevalence of MS, without improving its prognostic value. Further studies are needed before the newer IDF criteria for MS are adopted on a larger scale.
Circulating adipocytokines in non‐diabetic and Type 1 diabetic children: relationship to insulin therapy, glycaemic control and pubertal development
Authors: Celi F. , Bini V. , Papi F. , Santilli E. , Castellani M. S. , Ferretti A. , Mencacci M. , Berioli M. G. , De Giorgi G. , Falorni A. 
Published: May 2006

AbstractAim  To determine the influence of Type 1 diabetes mellitus on circulating adipocytokines in children.Methods  The circulating concentrations of leptin, adiponectin, resistin and tumour necrosis factor (TNF)‐α were measured in 91 children, aged 11.1 ± 2.7 years, with Type 1 diabetes mellitus (T1DM). Ninety‐one healthy children were selected as control subjects.Results  Body mass index‐adjusted leptin concentrations were higher in the pubertal diabetic children compared with the control children. There was a significant positive correlation between leptin and daily insulin dose in the diabetic group. Circulating adiponectin concentrations were higher in the prepubertal diabetic children and were positively associated with HbA1c. Resistin concentrations were lower in the prepubertal non‐diabetic subjects compared with the pubertal non‐diabetic children, whose values were higher than those of the diabetic children. TNF‐α concentrations were similar in non‐diabetic and diabetic children.Conclusions  Circulating concentrations of adipocytokines are abnormal in Type 1 diabetic children, although the direction of change differs by cytokine. Pubertal development, in addition to insulin treatment and glycaemic control, also influences the concentrations.
Clinical significance of circulating hepatocyte growth factor, a new risk marker of carotid atherosclerosis in patients with Type 2 diabetes
Authors: Satani K. , Konya H. , Hamaguchi T. , Umehara A. , Katsuno T. , Ishikawa T. , Kohri K. , Hasegawa Y. , Suehiro A. , Kakishita E. , Namba M. 
Published: May 2006

AbstractAims  Recent studies have provided increasing evidence that hepatocyte growth factor (HGF) has a pathophysiological role in the development of diabetic complications. We set out to determine the relationship between serum HGF and risk factors for macroangiopathy including carotid atherosclerosis. Carotid atherosclerosis is an established and important risk factor for both cerebral and coronary artery diseases.Methods  We studied 89 patients (48 males, 41 females, mean age 62.5 ± 10.3 years) with Type 2 diabetes (DM).Results  Serum levels of HGF correlated positively with both intimal‐media thickness (IMT) (r = 0.24, P = 0.0248) and plaque score (r = 0.27, P = 0.0126). In multiple regression analysis, serum HGF was associated independently with IMT (standardized β = 0.28, P = 0.0499). We also found that both IMT and plaque score were higher in patients with ischaemic heart disease (IHD) than in patients without IHD, and that plaque score in patients with lacunar infarcts was higher than in patients without lacunar infarcts.Conclusions  Serum HGF concentration may be a new marker of atherosclerotic complications in patients with Type 2 DM.
Plasma glucose levels and diabetes are independent predictors for mortality and morbidity in patients with SARS
Authors: Yang J. K. , Feng Y. , Yuan M. Y. , Yuan S. Y. , Fu H. J. , Wu B. Y. , Sun G. Z. , Yang G. R. , Zhang X. L. , Wang L. , Xu X. , Xu X. P. , Chan J. C. N. 
Published: May 2006

AbstractAims  To investigate the relationships between a known history of diabetes and ambient fasting plasma glucose (FPG) levels with death and morbidity rates in patients with severe acute respiratory syndrome (SARS).Methods  In this retrospective analysis, the clinical and biochemical characteristics of 135 patients who had died from SARS, 385 survivors of SARS and 19 patients with non‐SARS pneumonia were compared.Results  All patients were treated according to a predefined protocol. Before steroid treatment, the mean FPG level was significantly higher in the SARS group (deceased vs. survivors vs. non‐SARS pneumonia group: 9.7 ± 5.2 vs. 6.5 ± 3.0 vs. 5.1 ± 1.0 mmol/l, P < 0.01). In the SARS group, the percentage of patients with a known history of diabetes was significantly higher in the deceased patients than in the survivors (21.5% vs. 3.9%, P < 0.01). Among patients with no known history of diabetes and before commencement of steroid therapy, those who had hypoxaemia (SaO2 < 93%) had higher FPG levels than those who did not have hypoxia in both the survivor (8.7 ± 4.9 vs. 6.3 ± 2.1 mmol/l, P < 0.001) and deceased (9.8 ± 4.8 vs. 7.2 ± 1.5 mmol/l, P < 0.001) groups. A known history of diabetes [odds ratio (OR) 3.0, 95% confidence interval (CI) 1.4, 6.3; P = 0.005] and FPG ≥ 7.0 mmol/l before steroid treatment (OR 3.3, 95% CI 1.4, 7.7, P = 0.006) were independent predictors of death. During the course of the illness, FPG levels were negatively associated with SaO2 (β =−0.682 ± 0.305, P = 0.025, general estimation equation model) in SARS patients. Survival analysis showed that FPG was independently associated with an increased hazard ratio (HR) of mortality (HR = 1.1, 95% CI 1.0, 1.1, P = 0.001) and hypoxia (HR = 1.1, 95% CI 1.0, 1.1, P = 0.002) after controlling for age and gender.Conclusions  A known history of diabetes and ambient hyperglycaemia were independent predictors for death and morbidity in SARS patients. Metabolic control may improve the prognosis of SARS patients.