Cold snare endoscopic resection of nonpedunculated colorectal polyps larger than 10 mm. A retrospective series.

BACKGROUND AND AIMS: Cold snare polypectomy (CSP) is an accepted technique to remove diminutive or small (6-9 mm) polyps. Here we present a series of CSP for advanced non-pedunculated polyps (> 10 mm). PATIENTS AND METHODS: This is a retrospective, single operator study. A total of 111 patients with non-pedunculated polyps (Paris classification 0-IIa, 0-IIb, 0-Is) estimated > 10 mm, underwent CSP. RESULTS: A total of 129 polyps were removed (87 0-IIa, 18 0-IIb, 24 0-Is). The number of these polyps ranked according to size were as follows : 11-19 mm : 63 (49%), 20-29 mm : 44 (34%), > 30 mm : 22 (17%). Thirty-eight (29.5%) were sessile serrated adenomas, 47 (36%) were tubular adenomas, 25 (19.3%) were villous adenoma's and 18 (14%) were hyperplastic polyps. Forty-nine (38%) polyps were resected in a piecemeal fashion, submucosal injection with diluted Indigo Carmine was used in 24 (19%). Immediate oozing bleeding was frequent but in almost all patients rapid spontaneous haemostasis occurred. In only one patient haemostatic clipping was required (in order to achieve hemostasis). Preventive clipping was used in 3 patients. There were no complications. Seventy-two patients (with 87 lesions) had a follow-up colonoscopy. Of these 87 lesions, 9 had residual adenomatous tissue (10.3 %). According to the size of the original polyp, the distribution was as follows: 11-19 mm : 2/36 (5.5 %), 20-29 mm : 4/32 (12.5 %), > 30 mm : 3/19 (15.7%). CONCLUSION: CSP for advanced, non-pedunculated lesions is feasible, effective and extremely safe.

Solid and cystic papillary neoplasm of the pancreas: a rare tumour in young women.

In this paper, we present an asymptomatic young patient with solid and cystic papillary neoplasm of the pancreas. It is an extremely rare tumour mostly seen in young females. It is often diagnosed incidentially or during investigations of gastrointestinal complaints. In differential diagnosis, any cystic and/or solid pancreatic disease process should be considered. Prognosis is excellent after radical resection and recurrence is rarely seen.

Idiopathic acute eosinophilic hepatitis: does it exists?

Until now, "eosinophilic hepatitis" has not been recognized as a separate disease entity. We report a case of a middle-aged women with an acute febrile, severe cholestatic hepatitis accompanied with rash and quincke oedema, and an elevated serum IgE level. Liver biopsy showed lymphocytic inflammation with a remarkably high number of eosinophils. She responded rapidly to methylprednisolone treatment, which could be quickly tapered off and stopped without relapse. The term 'idiopathic acute eosinophilic hepatitis' seems to be the best fitting diagnostic term.

Hepatosplenic Sarcoidosis Complicated by Liver Cirrhosis.

Sarcoidosis is a multisystemic disease usually affecting the lungs and mediastinal lymph nodes. Other organs, such as the liver and the spleen, are less commonly involved. Patients usually present with mild nonspecific symptoms. On imaging, hepatosplenomegaly with or without multiple focal lesions within the spleen may be seen in the active disease stage. Rarely, the disease may evolve to cirrhosis and liver failure. We report such a rare case of hepatosplenic sarcoidosis complicated by acute esophageal bleeding due to portal hypertension.

Carrier testing and prenatal diagnosis for hemophilia: experiences and attitudes of 549 potential and obligate carriers.

Experiences with and attitudes toward carrier testing and prenatal diagnosis were evaluated among 549 potential and obligate carriers of hemophilia. Almost everybody considered carrier testing to be useful. Forty-nine percent had been tested for carriership, 10% had only received limited information, and 41% had not been tested and had never received information about the heredity of hemophilia. More married women, women with severe hemophilia in their family, and women closely related to a patient with hemophilia had been tested for carriership than others. Lack of information about the probability of carriership for female relatives and a similar ignorance of the possibility of carrier testing were important reasons for not having been tested. Eleven percent of the women with one or more children had undergone prenatal diagnosis in the past. Thirty-one percent of the study population would favour prenatal diagnosis with the implication of a potential abortion in early pregnancy and half of them would choose this option even in late pregnancy. Most of the women who objected to prenatal diagnosis did so because they did not consider hemophilia to be a sufficiently serious disorder to justify an abortion.

Employment of individuals with haemophilia in The Netherlands.

A study was performed to determine whether improvements in the treatment of haemophilia over the past 20 years have influenced the prospects of these patients in the labour market. Surveys on the medical and social situation of haemophiliacs in The Netherlands were carried out in 1972, 1978 and 1985. Most of the patients participated in these surveys. Trends in employment do not show either an increase in the number of employed haemophiliacs or a decrease in the number administratively defined as disabled. However, considering the influence of the economic recession on the position of the chronically sick on the labour market and the rise in the number administratively defined as disabled in the Dutch population, haemophiliacs perform well. Sick leave has decreased considerably. Although the employment rate for the group of haemophiliacs is lower than that for the general male population, the level of employment in relation to educational achievements is high and most of the employed do not feel limited in their daily job activities by the haemophilia. Physical mobility is a main factor influencing the employment status but other factors, such as the type of occupation or former occupation and prejudice against people with haemophilia, have to be considered.

Formation of linear aldehydes during surface water preozonization and their removal in water treatment in relation to mutagenic activity and sum parameters.

Low molecular weight aldehydes were formed during surface water preozonization, their levels showing a positive correlation with increasing ozone dose applied and with increasing water temperature. A strong negative correlation was observed between aldehyde levels and U.V. absorbance at 254 nm. Coagulation had no influence on the aldehydes present and the influence of rapid double layer filtration varied strongly with temperature: significant removals were only observed above 10 degrees C. Mutagenic activity generated by preozonization in Salmonella typhimurium TA98 shows an ozone dose depending relationship different from the formation of linear aldehydes. Its removal by coagulation is not effective but rapid double layer filtration reduces mutagenic activity to marginal levels. In this respect too no clear parallel can be drawn between the presence of low molecular weight aldehydes and mutagenic activity.

[Adenocarcinoma in a cystic duplication of the ileum]. / Adenocarcinoma optredend in een cystische duplicatie van het ileum.

A case of adenocarcinoma arising in a cystic duplication of the ileum of a 34 year old woman is described. Only one case of adenocarcinoma in ileal duplication has been recorded previously. The adenocarcinoma arose from gastric mucosa of a tubular duplication. In this case the adenocarcinoma arose from primitive type intestinal mucose in a cystic duplication.

Physical condition, longevity, and social performance of Dutch haemophiliacs, 1972-85.

A study was carried out among haemophiliacs in The Netherlands to evaluate the effect of modern substitution treatment (replacing the missing clotting factors) on medical and social performance. Three questionnaires were sent between 1972 and 1985. The use of prophylactic treatment in the group of patients with severe and moderately severe haemophilia increased from 21% (n = 242) in 1972 to 36% (n = 559) in 1985. Home treatment programmes increased from 4% to 53%. Overall mortality was 2.1 times higher than in the general male population, which leads to a calculated life expectancy of 66 years compared with 74 years in the general male population. Severe joint impairment was prominent in the older age groups, reflecting insufficient treatment in the past. A sharp decrease in the use of inpatient and outpatient hospital facilities was observed as well as much less absence from school and work. It is concluded that the high costs of modern substitution treatment are fully justified.

[Social effects of current hemophilia treatment]. / De maatschappelijke effecten van de moderne hemofiliebehandeling.

The influence of modern substitution therapy on social functioning of haemophiliacs was studied by means of surveys of education and employment in 1972, 1978 and 1985. In addition we studied the physical mobility of the patients. Non-attendance at school and educational delay decreased substantially over thirteen years and the educational level of adult patients is the same as that of the general male population. Sick leave decreased also but the number of disabled did not. Considering the general rise in the number of disabled, the general unemployment situation may be partly blamed for this. Younger patients have a better physical mobility than the older ones who did not have appropriate treatment of bleedings when they were young. Trends in reduction of joint impairment and increase of physical mobility are expected to continue in the coming decades, with a positive effect on social functioning.

Hospital doctors behave differently, and only by respecting the fundamentals of professional organizations will managers be able to create common goals with professionals.

Hospital doctors behave differently from other hospital workers. The general and specific characteristics of the doctors' behavior are described. As professionals, doctors want to make autonomous decisions and more specifically, they negotiate differently. The best description of their negotiation style is one that features multi-actor, multi-issue characteristics. They behave as actors in a network in never-ending rounds of negotiations with variable issues up for discussion: one time you lose, the next you win. A doctor's career starts with a long residency period in which he or she absorbs professional habits. His or her knowledge and way of organizing are implicit. It is hard for him or her to explicitly describe what he or she is doing. This makes it difficult for managers to discuss quality issues with doctors. Dealing with disruptive behavior is not easy either. The difficult tasks of the chief medical officer, who acts as a go-between, are highlighted. Only when managers respect the fundamentals of the professional organization will they be able to create common goals with the professionals. Common goals bring about better care in hospitals.

Unilateral giant cell lesion of the jaw in Noonan syndrome.

Noonan syndrome (NS) is an etiologically heterogeneous disorder caused by mutations in the RAS-MAPK signaling pathway. Noonan-Like/Multiple Giant Cell Lesion (NL/MGCL) syndrome is initially described as the occurrence of multiple gnathic giant cell lesions in patients with phenotypic features of NS. Nowadays, NS/MGCL syndrome is considered a variant of the NS spectrum rather than a distinct entity. We report the case of a 14-year-old female patient carrying a SOS1 mutation with a unilateral giant cell lesion of the right mandible. Cross-sectional imaging such as CT and MRI are not specific for the diagnosis of oral giant cell lesions. Nonetheless, intralesional scattered foci of low SI on T2-WI, corresponding to hemosiderin deposits due to hemorrhage, can help the radiologist in narrowing down the differential diagnosis of gnathic lesions in patients with NS.

An unsuspected cause of diarrhoea and gastrointestinal bleeding during corticosteroid therapy.

We report on a fatal case of disseminated strongyloidiasis during corticosteroid treatment presenting with abdominal pain, diarrhoea and lower gastrointestinal bleeding. The patient emigrated from Thailand 16 years before the current hospitalisation. Complicated strongyloidiasis is a relatively unrecognized complication of corticosteroid therapy in non-endemic areas. In individuals who have resided in endemic areas, even decades before treatment, strongyloidiasis should be excluded before initiation of immunosuppressants.

Congenital muscular dystrophy associated with lethal arthrogryposis multiplex congenita.

Two unrelated patients with severe arthrogryposis multiplex congenita (AMC) who died perinatally, are presented. In both, postmortem examination revealed an intact nervous system and striking dystrophic muscle changes, consistent with congenital muscular dystrophy (CMD). Few similar cases have been reported before, but since the condition is not well known, it seems probable that in the past many have been labeled as mere multiple malformations. The possibility of an underlying muscular disorder, either primary myopathic or neurogenic should be considered in any patient with early lethal AMC. Our findings confirm that the fetal akinesia-arthrogryposis sequence is a nonspecific clinical syndrome resulting from various causes of muscular inactivity in utero. The main objective of this report is to provide reasonable guidelines on how to approach the problem of classification. We favor a pathogenetic approach, depending upon careful sampling of the central nervous system and skeletal muscles at autopsy.

Modern haemophilia treatment: medical improvements and quality of life.

Adequate replacement therapy in haemophilia has been available for two decades. This has led to considerable improvements in the life expectancy and physical status of haemophilia patients. A study was conducted to investigate whether this has also led to improvements in quality of life. With this aim, information was obtained from 935 Dutch haemophiliacs by mailed questionnaires on relationships, marriage, family life and employment. Haemophilia patients were less often married than men in the general population (13% fewer) and had a lower total number of children (30% lower, 17% for those who were married). Twenty-two per cent of the patients were not employed and received an income from the disability funds. While severity of haemophilia, joint damage and age increased the risk of disability, it was noted that home treatment was associated with a 50% reduction in this risk. Remarkably, haemophilia patients did not differ from the general population in their view of the quality of their own health. The results of this study show a positive influence of modern haemophilia treatment on quality of life. At present, AIDS overshadows all optimistic feelings one may have about this field. However, the results described here demonstrate the benefits that can be achieved with adequate replacement therapy, and justify the expectation of further improvements in the near future.

Hepatocellular transferrin receptor expression in secondary siderosis.

We investigated the hepatocellular transferrin receptor expression in 55 human liver specimens with secondary siderosis, with an indirect immunoperoxidase technique on frozen sections using 3 monoclonal anti-transferrin receptor antibodies. For comparison, specimens were also stained with the monoclonal antibody BK19.9, recognizing an antigen which is biochemically similar to the transferrin receptor, and with a monoclonal antibody against the epidermal growth factor receptor. The degree of iron overload was estimated semi-quantitatively, taking into account hepatocellular and Kupffer cell iron deposition. In 47 out of 55 specimens hepatocellular transferrin receptor expression was present. The positivity was predominantly localized on hemosiderin-free hepatocytes. With increasing hepatocellular iron deposition, the proportion of cases with absent transferrin receptor immunoreactivity increased. This supports the previously reported disappearance of hepatocellular transferrin receptor expression in primary hemochromatosis cases with severe iron deposition. However, the transferrin receptor negative cases included four specimens in which Kupffer cell iron deposition clearly exceeded hepatocyte iron load. This finding suggests that in addition to hepatocellular iron load other factors may regulate the expression of parenchymal transferrin receptors in iron overload diseases. These may include plasma levels of various iron sources and/or Kupffer cell iron load. The iron deposition did not influence the staining of the hepatocellular epidermal growth factor receptor nor the Kupffer cell staining by the BK19.9 antibody. This confirms the specificity of the findings concerning the behaviour of the transferrin receptor in secondary siderosis.

Mortality and causes of death in Dutch haemophiliacs, 1973-86.

Mortality figures were calculated for a group of 717 Dutch haemophiliacs over the period 1973-86. Follow-up was on average 10.9 years; no patients were lost to follow-up. The data were compared to the general male population by actuarial methods and patient-year analysis. Forty-three patients died, while 20 deaths were expected in a hypothetical group of non-haemophiliacs of the same age distribution. Hence, overall mortality was 2.1 times higher than in the general population. This leads to a calculated life expectancy of 66 years, as compared to 74 years in the general male population. Mortality did not differ much by severity of haemophilia. A possibly beneficial effect of prophylaxis on longevity was observed. Haemorrhage occurred in half of all deaths and among these traumatic bleeding was the most prevalent. The number of deaths due to ischaemic heart disease was significantly lower (80% reduction) than expected and therefore the authors conclude that haemophilia offers protection against ischaemic heart disease. Cancer mortality was significantly higher (2.5 times) than expected.

Sex ratio of the mutation frequencies in haemophilia A: estimation and meta-analysis.

A hereditary disease with excess mortality such as haemophilia is maintained in the population by the occurrence of new cases, i.e. mutations. In haemophilia, mutations may arise in female or male ancestors of a 'new' patient. The ratio of the mutation frequencies in males over females determines the prior risk of carriership of the mother of an isolated patient. An estimate of this prior risk is required for the application of Bayes' theorem to probability calculations in carriership testing. We have developed a method to estimate the sex ratio of the mutation frequencies; it does not depend on the assumption of genetic equilibrium, nor require an estimate of the reproductive fitness of haemophilia patients and carriers. Information from 462 patients with severe or moderately severe haemophilia A was gathered by postal questionnaires in a survey that included practically all Dutch haemophiliacs. Pedigree analysis was performed for the 189 patients of these 462, who were the first haemophiliacs in their family. By the maximum likelihood method, the ratio of the mutation frequencies in males and females was estimated at 2.1, with a 95% confidence interval of 0.7-6.7. In addition, we performed a meta-analysis of all published studies on the sex ratio of the mutation frequencies. When the results of six studies were pooled, it was estimated that mutations originated 3.1 times as often in males as in females. The 95% confidence interval was 1.9-4.9. This implies that 80% of mothers of an isolated patient are expected to be haemophilia carriers.