bluuebunny/crossref_metadata_2025 huggingface dataset:
Cystic Tumors of the Pancreas
Authors: Gasslander Thomas , Arnelo Urban , Albiin Nils , Permert Johan
Published: April 2003

The discovery of a cystic lesion in the pancreas implies a challenge for the physician. Approximately 10% are cystic tumors, benign to highly malignant, or true cysts, showing all stages of cellular differentiation, from benign to highly malignant tumors. Malignant cystic tumors are rare and comprise only about 1% of all pancreatic malignancies, they are potentially curable. Therefore, correct diagnosis and treatment of these lesions are of great importance. It is usually not possible to separate a pseudocyst from a benign cyst or a cystic tumor, but there are some signs and findings that could be helpful in the clinical decision. The diagnosis of a cystic pancreatic tumor requires different imaging techniques, including ultrasonography, computerized tomography, magnetic resonance imaging, and magnetic resonance cholangiopancreatography, but to distinguish a pseudocyst or a benign cyst from a potentially malignant lesion can be very difficult. The usefulness of blood tests and investigations of cyst fluid can be questionable. Today, surgical treatment of cystic pancreatic tumors can be performed with low morbidity. Therefore, we conclude that an active strategy with resection of cystic tumors of the pancreas should be recommended.
Diffusion of Knowledge about Helicobacter pylori as Assessed in an Open-Access Endoscopy System: A Prospective Observational Study Based on the Maastricht Guidelines
Authors: Manes Gianpiero , Mosca Sandro , Balzano Antonio , Amitrano Lucio , Bove Antonio , De Nucci Claudio , Guardascione Maria Anna , Lombardi Giovanni , Picascia Salvatore , Riccio Elisabetta , Rocco Pasquale Vincenzo
Published: April 2003

Background/Aim: Aim of the present study is to assess, according to the guidelines of the Maastricht Consensus Conference, the appropriateness and diagnostic yield of upper gastrointestinal endoscopy in an open-access endoscopy system, in order to evaluate the diffusion of knowledge about Helicobacter pylori among different types of physicians. Methods: Patients undergoing endoscopy because of dyspeptic symptoms were prospectively considered in 21 endoscopy services of Campania during two different 1-week periods in 1998 and 2001. The following data were recorded: age, sex, symptoms, history of peptic ulcer with regard to previous endoscopic or radiographic examinations and treatment, endoscopic diagnosis, and H. pylori status. The indication for endoscopy was evaluated according to Maastricht guidelines and current medical knowledge. Results: In the two periods, 1998 and 2001, 706 and 520 patients were, respectively, considered. The two series were matched for demographic characteristics, symptoms, and endoscopic diagnosis. Endoscopy was considered not indicated in 398 patients (56.4%) in 1998 and in 265 patients (50.9%) in 2001 (p = NS). The majority of them, 288/398 (72.3%) in 1998 and 162/265 (61.1%) in 2001 (p = 0.001), had recently undergone endoscopy or radiology and empiric antisecretory treatment or eradication. They had been referred to endoscopy because of recurrence of symptoms or to assess healing. In 110 cases in 1998 (27.6%) and in 103 cases in 2001 (38.9%; p = 0.001) endoscopy was performed in dyspeptic patients younger than 45 years without alarm symptoms. Conclusions: 4 years after the Maastricht Conference, a large number of endoscopic examinations are not indicated and could be avoided following the Maastricht guidelines. In 2001, in comparison to 1998, a larger number of physicians are likely to investigate and treat correctly the H.-pylori-related diseases, but there are still some problems with the application of the ‘test-and-treat policy’.
Targeting the Abnormalities of Gastroduodenal Functions in Functional Dyspepsia
Authors: Domínguez-Muñoz J. Enrique
Published: April 2003

The current definition of functional dyspepsia changes the previous concept of absence of organic disease to the presence of a functional alteration of the upper gastrointestinal tract. From a theoretical point of view, the alteration of any major gastrointestinal function may induce dyspeptic symptoms. However, both asymptomatic subjects with some gastrointestinal functional alteration and dyspeptic patients without a demonstrable dysfunction are not unusual. This may be explained at least in part by the more recent concept of visceral sensitivity. The potential role of acid secretion in the pathogenesis of functional dyspepsia as well as the positive effect of antisecretory drugs in a proportion of patients may be based on an increased gastric acid secretion and duodenal acid overload, a hypersensitivity to acid and/or the development of acid-mediated gastrointestinal motor abnormalities. Helicobacter pylori infection may play a role in this context. Both interdigestive and postprandial gastrointestinal motility, mainly a delayed gastric emptying and an altered intragastric distribution of nutrients, have been described to be disturbed in up to half of the patients with functional dyspepsia. This may also be an explanation for the high frequency of intestinal bacterial overgrowth in these patients. Most probably, visceral hypersensitivity should be present for motor alterations to induce symptoms. This is the basis for future development of new drugs in the management of this functional syndrome. The role of H. pylori in the pathogenesis of functional dyspepsia is a matter of discussion, but a proportion of patients benefit from eradication therapy and, therefore this therapeutic approach should be taken into account.
Tests for the Evaluation of Functional Gastrointestinal Disorders
Authors: Knippig C. , Fass R. , Malfertheiner P.
Published: April 2003

Functional gastrointestinal disorders are a common problem. Different noninvasive and invasive strategies have been carried out in recent years to study the role of impaired myoelectrical activity, tone, compliance, transit and perception of the gastrointestinal tract. Esophageal barostat examination and impedance measurements have been added to standard clinical methods like manometry and pH-metry for the esophagus. Bilirubin measurement allows the evaluation of duodenogastroesophageal reflux and perception can be studied by gastric barostat. Electrogastrography and tenostat test are still research tools. Rectal or sigmoid barostat examination is a new research tool to study visceral sensitivity in the lower gastrointestinal tract. New methods – like functional MRI and SPECT – are promising features for the future.
Irritable Bowel Syndrome in Mexico
Authors: Huerta Ivonne , Valdovinos Miguel Angel , Schmulson Max
Published: April 2003

The current review includes all the available original data on irritable bowel syndrome in Mexico. Data were organized in items of interest such as prevalence and gender distribution, health care utilization, psychosocial factors, diagnostic criteria, bowel habit predominance, physiological studies, clinical trials and quality of life assessment. After a systematic review, a total of 18 papers were included, the majority published between 1996 and 2000. We can conclude that irritable bowel syndrome in Mexico is similar to that reported in the international literature with regard to the areas analyzed, and therefore it is suitable to run clinical trials with similar outcomes as has been done in other populations.
Pathology and Pathogenesis of Hepatocellular Carcinoma
Authors: Röcken Christoph , Carl-McGrath Stacy
Published: April 2003

Hepatocellular carcinoma (HCC) is the most common primary malignant tumor of the liver and among the most common cancers worldwide. The distribution pattern of HCC shows geographical variation and its pathogenesis is multifactorial. Environmental, infectious, nutritional, metabolic, and endocrine factors contribute directly or indirectly to hepatocarcinogenesis. The synchronous occurrence of different risk factors, such as chronic viral hepatitis B and C, aflatoxin exposure, alcohol consumption or iron overload, in a single patient or patient population further increases the risk. HCC is commonly associated with chronic hepatitis and liver cirrhosis. Different genes have been implicated in the pathogenesis of HCC, and may be divided into four major groups: genes regulating DNA damage response; genes involved in cell cycle control; genes involved in growth inhibition and apoptosis, and genes responsible for cell–cell interaction and signal transduction. Hepatocarcinogenesis is mediated by loss of heterozygosity, somatic mutation, de novo methylation, and/or functional inactivation. As yet, there is no evidence for an ordered sequence of genomic events leading to hepatocarcinogenesis. The pattern of genomic alterations shows great variability, often between two different HCCs from a single patient. HCC evolves from precancerous lesions, and well-differentiated HCC further progresses to a less differentiated form. However, there is still great need for the definition of objective morphological, phenotypic and genetic markers for the progression of HCC.
Parasitic Infections and Hepatic Neoplasia
Authors: Abdel-Rahim Ayman Yosry
Published: April 2003

Parasitic infections are highly prevalent in the general population. Detecting a relationship between a parasitic infection and cancer is not an easy task; it requires epidemiological, microbiological and molecular biology techniques. In this article the important mechanisms by which parasitic infections may induce carcinogenesis are reviewed. The association between Schistosoma japonicum, Schistosoma mansoni and hepatocellular carcinoma is covered. The cause-and-effect relationship between the liver flukes Opisthorchis viverrini, Opisthorchis felineus, Clonorchis sinensis, and cholangiocarcinoma is also reviewed. The evidence supporting the role of schistosomes and liver flukes in carcinogenesis is discussed. Finally the importance of the primary prevention of these parasitic infections with oncogenic potentials is emphasized.
Hepatocellular Carcinoma in Southern Germany: Epidemiological and Clinicopathological Characteristics and Risk Factors
Authors: Hellerbrand Claus , Hartmann Arndt , Richter Georg , Knöll Antje , Wiest Reiner , Schölmerich Jürgen , Lock Guntram
Published: April 2003

The aetiology of chronic liver disease leading to hepatocellular carcinoma (HCC) and the clinical characteristics of patients with HCC vary considerably internationally and intranationally. This study analyses the characteristics of HCC patients in southern Germany, a low endemic area of HCC. Methods: The files of 118 consecutive patients with HCC observed in a single tertiary care hospital between 1994 and 2000 have been reviewed. Epidemiological and clinicopathological characteristics such as age at presentation, ethanol consumption, serological hepatitis virus markers, and fibrosis were studied. Additionally, serum levels of α-fetoprotein (AFP) were analysed at the time of diagnosis in 77 patients. Results: The male:female ratio was 4:1 and the mean age at presentation was 61.8 years. Alcohol abuse (49.2%) and chronic hepatitis C infection (17.8%) were the most frequent risk factors. Histologically proven liver cirrhosis in the surrounding non-tumorous tissue was present in only 59.0% of cases. AFP levels were elevated in 78% of cases, but only 34% reached >500 ng/ml, a value considered to be significant for the diagnosis of HCC. AFP levels correlated with the stage of fibrosis. Summary and Conclusions: The sensitivity of AFP serum levels as a tumour marker is poor but might help to detect at least a minority of cases. As in other populations within Europe, chronic alcohol abuse is frequently associated with HCC in southern Germany, confirming that alcohol is still the most important risk factor for hepatocarcinogenesis in areas with low hepatitis virus prevalence. Considering the poor prognosis of HCC, prevention is of pivotal importance, particularly for patients with chronic liver disease and other risk factors for the development of HCC.
Thalidomide Effectiveness for Bilateral Chronic Idiopathic Anterior Uveitis in a Three-Year-Old Child
Authors: Parentin Fulvio , Da Pozzo Stefano , Lepore Loredana , Perissutti Paolo
Published: April 2003

The authors report their experience with thalidomide in the treatment of a bilateral chronic idiopathic uveitis, in a 3-year-old female. This case was complicated by the presence of a cataract and an iris neovascularization in the right eye; furthermore it was partially unresponsive to a conventional anti-inflammatory and immunosuppressive therapy. Oral thalidomide induced slow but dramatic regression of the inflammation, and a significant reabsorption of neovascular tufts, both in slitlamp examination and on iris fluorescein angiography. The authors emphasize the efficacy of thalidomide as anti-inflammatory agent and as inhibitor of neoangiogenesis, reporting the recent literature about the use of this drug in ophthalmology.
Biodegradable Polymers for Ocular Drug Delivery
Authors: Kimura Hideya , Ogura Yuichiro
Published: April 2003

A variety of ocular drug delivery systems, including a controlled release of the drug, drug targeting, and penetration enhancement of the drug, have been investigated. Biodegradable polymers have been widely used as the drug carrier for controlled-release systems. Biodegradable polymers release the drug as they themselves degrade and are finally absorbed within the body. Several ocular drug delivery systems using different kinds of biodegradable polymers have been studied. In this article, we describe the fundamental mechanisms of drug delivery systems, polymer erosion and drug release, and then review those systems using the most popular biodegradable polymers, poly(lactic acid) and poly(lactic-glycolic acid).
Normal Range of Exophthalmos Values on Orbit Computerized Tomography in Koreans
Authors: Kim In Taek , Choi Jung Bum
Published: April 2003

The value of parameters in Hertel’s exophthalmometry was measured by using orbit computerized tomography (CT) in this study. We selected images that revealed the center of the lens, the largest eyeball contour and the optic canal on the axial view of orbit CT. Parameters of exophthalmometry on orbit CT were the distance between the lateral orbital rims of both eyes (A), the shortest distance from the corneal center to line A (B), the B/A ratio, the distance between the lateral orbital rim and the medial orbital rim (C), the length of the line passing through the lens center from the apex to line C (D) and the D/C ratio. To compare the center position of the eye, we measure the axial length (E) and the longest distance between the corneal apex and the posterior pole (F) which is parallel to line B. We also calculated B-F/2 and Hertel-F/2 in order to know if there is a difference between measurements of orbit CT and of Hertel’s exophthalmometer. Subjects were classified into group 1 (aged 8–13 years old) and group 2 (aged 20 years old more). Sixteen subjects were enrolled in group 1 (32 eyes). In group 2, 100 subjects were male (200 eyes) and 35 were female (70 eyes). In group 1, the mean value was 89.94 mm for A, 13.49 mm for B, 35.13 mm for C, 10.64 mm for D, 24.40 mm for E, 24.20 mm for F, 0.15 for the B/A ratio and 0.30 for the D/C ratio. In group 2, the mean value was 100.93 mm for A, 15.03 mm for B, 38.78 mm for C, 12.03 mm for D, 24.62 mm for E, 24.33 mm for F, 0.15 for the B/A ratio and 0.31 for the D/C ratio. There was a statistically significant difference between the two groups for parameters A, B, C and D (p = 0.001), but no significant difference for the B/A (p = 0.239) and D/C ratios (p = 0.803). In the males and females of group 2, there was a statistically significant difference for the B/A ratio (p = 0.028). We suggest that the value of the D/C ratio (0.30–0.31) could be used as the index of protrusion. The normal values of exophthalmometry parameters measured by orbit CT could also be helpful to evaluate the exact protrusion in orbital diseases.
Postoperative Inflammation after Cataract Surgery in Patients with Rheumatoid Arthritis
Authors: Pahor Dušica , Pahor Artur , Gračner Bojan
Published: April 2003

The purpose of the present study was to assess the influence of preoperative activity of rheumatoid arthritis (RA) on early postoperative anterior chamber inflammation after phacoemulsification and intraocular lens implantation. Twenty-three eyes in 18 patients were included in our study. On the first postoperative day, anterior chamber inflammation was observed in 11 eyes (47.8%). Five days after surgery, we found postoperative inflammation only in 1 eye (4.3%). Keratic precipitates were observed in 1 eye (4.3%) on the second postoperative day. We found no correlation between the extent of anterior chamber inflammation and the preoperative activity of RA. Postoperative anterior chamber inflammation was also not associated with the medical management of RA.
Ocular Attacks after Phacoemulsification and Intraocular Lens Implantation in Patients with Behçet Disease
Authors: Matsuo Toshihiko , Takahashi Makiko , Inoue Yasushi , Egi Kuniaki , Kuwata Yasunori , Yamaoka Akihiro
Published: April 2003

Purpose: To elucidate factors related to ocular inflammatory attacks after cataract surgery, limited to a single procedure of phacoemulsification and intraocular lens implantation, in patients with Behçet disease. Methods: This retrospective study included 12 consecutive patients (16 eyes) with Behçet disease, who underwent phacoemulsification and intraocular lens implantation during 4 years from January 1995 to December 1998 at three institutions. Their medical records were reviewed, and factors related to the ocular attacks were analyzed. Results: Four eyes of 3 patients experienced ocular attacks during 1 year before cataract surgery, while 4 eyes of 4 patients developed ocular attacks during 1 year after the surgery. The development of ocular attacks after cataract surgery was significantly related with the presence of ocular attacks during 1 year before the surgery (p = 0.0286, χ2 test). The patients’ age or gender, the duration of Behçet disease or oral medications for Behçet disease did not show any relationship with the presence or absence of ocular attacks after cataract surgery. The visual acuity improved in all patients after the surgery, including those who developed ocular attacks. Conclusions: The experience of ocular attacks during 1 year before cataract surgery is related to postoperative ocular attacks. Despite postoperative ocular attacks, phacoemulsification with intraocular lens implantation is a safe procedure to expect a good visual outcome in patients with Behçet disease.
Study on Tear Function Abnormality in Pterygium
Authors: Ergin Ahmet , Bozdoğan Önder
Published: April 2003

The purpose of this study was to determine whether there is any abnormality in the tear function in patients with pterygium. Eighty-four patients with pterygia (56 with unilateral and 28 with bilateral involvement) and 45 healthy controls were entered in the study. Schirmer’s test, breakup time test and mucus fern test were applied to both eyes of the subjects. This was a prospective, comparative and interventional study. Tear function test results between the eyes with pterygium and controls were compared. They were similar in the eyes with or without pterygium. There were no tear function abnormalities in pterygium.
Ptyerygium and Dry Eye
Authors: Ishioka M. , Shimmura S. , Yagi Y. , Tsubota K.
Published: April 2003

Purpose: To assess the correlation between dry eye and pterygium. Methods: Tear breakup time (BUT), Schirmer test with/without anesthesia and tear function index were evaluated in both eyes of patients with unilateral pterygium. Results: Tear BUT, was shortened significantly in the eye with pterygium. The Schirmer test with anesthesia was shortened and the tear function index was decreased in the eye with pterygium with marginal significance. Conclusion: There is a correlation between pterygium formation and shortened BUT. Unstable tear film may contribute to the initiation of pterygium.
Posttraumatic Benign Pleomorphic Adenoma of the Lacrimal Gland
Authors: Hsu Huan-Chen
Published: April 2003

A 55-year-old man presented with a painless and slowly developing mass in the right superior lateral eyelid region. He had sustained periorbital blunt injury about 4 years previously. The mass was observed several months later in the persisting traumatic tumefaction region. Computed tomography showed a cystic soft-tissue mass with central low density and peripheral enhancement over the upper anterior quadrant of the right orbit. Lateral orbitotomy was performed to remove the lesion. Histopathologic examination showed proliferation of epithelial and myoepithelial cells arranged in ductules and nests in the myxoid stroma. Benign pleomorphic adenoma of the lacrimal gland associated with traumatic tumefaction, as demonstrated in our patient, may be rare.
Early Detection, Diagnosis and Management of Choroidal Neovascularization in Age-Related Macular Degeneration: The Role of Ophthalmologists
Authors: Sickenberg Michel
Published: April 2003

Choroidal neovascularization (CNV) secondary to age-related macular degeneration (AMD) is a serious condition which, if unrecognized and untreated, can result in the rapid deterioration of vision. Early detection and prompt referral to a retina specialist may potentially reduce the high risk of severe vision loss. The majority of AMD patients with CNV who present to an ophthalmologist will have been referred by either a primary care physician or an optometrist. Following referral, ophthalmologists will confirm diagnosis and identify the location and composition of the CNV. This information will provide the basis for a decision on what treatment, if any, is indicated. Until last year, laser photocoagulation was the only clinically-proven treatment option for neovascular AMD in large-scale randomized clinical trials, although many patients were not eligible for this treatment. Verteporfin (VisudyneTM) therapy is a new treatment option that uses photodynamic therapy in patients with predominantly classic subfoveal CNV secondary to AMD. Retrospective analyses show that the introduction of verteporfin therapy is likely to increase the number of patients with neovascular AMD who can be treated. Early detection, prompt referral and treatment, together with appropriate use of low vision aids, will help to optimize patient outcomes and quality of life.
Corneal Allograft Rejection: Current Understanding
Authors: Pleyer Uwe , Dannowski Haike , Volk Hans-Dieter , Ritter Thomas
Published: April 2003

Allograft rejection remains the single largest impediment to success in corneal transplantation. This article briefly reviews our current understanding of some fundamental aspects of corneal immunology and the pathogenetic mechanisms underlying corneal graft rejection. As knowledge increases, it is hoped that a better understanding of the immunobiology may result in improved preventive and therapeutic measures.
Duration of Non-Insulin-Dependent Diabetes mellitus and the TNF-β NcoI Genotype as Predictive Factors in Proliferative Diabetic Retinopathy
Authors: Kaňková Kateřina , Mužík Jan , Karásková Jana , Beránek Michal , Hájek Dobroslav , Znojil Vladimír , Vlková Eva , Vácha Jiří
Published: April 2003

The object of the study was to investigate the share of the polymorphisms I/D ACE, endothelin 1 4127G/A and TNF-β NcoI in the susceptibility to proliferative diabetic retinopathy (PDR) in non-insulin-dependent diabetes mellitus (NIDDM). Genotypes were detected by polymerase chain reactions and determined in a set of 246 Caucasian NIDDM subjects with defined PDR status. The relevance of genotypes and clinical characteristics to the PDR occurrence was tested using multiple linear regression models and discrimination analysis. The best predictive value for PDR was given by a combination of two parameters – NIDDM duration and the TNF-β genotype (p < 1·10–6 and p = 1·10–2, respectively) with a correct retrograde prediction of 82.6%. A comparison of the TNF-β NcoI allele frequencies revealed no difference between NIDDM and nondiabetic subjects (n = 176), but a statistically significant difference was found between PDR and non-PDR NIDDM subjects (after a correction for the number of comparisons p = 0.03), allele β2 being associated with PDR. Our results identified the allele variant TNF-β2 being associated with PDR in NIDDM. Diabetes duration and the TNF-β NcoI genotype were proven to significantly predict PDR occurrence. The TNF-β2 allele could be regarded as a separate genetic risk factor that increases the relative incidence of PDR in patients with NIDDM.
Experimental Staphylococcal Endophthalmitis
Authors: Giese Michael J. , Mondino Bartly J.
Published: April 2003

Endophthalmitis is one of the most feared complications of ocular trauma or surgery. It is a complex pathogen- and host-mediated process that often results in significant vision loss. This review summarizes data from experimental models of staphylococcal endophthalmitis that address the host’s immune response to intraocular staphylococci and those that investigate disease pathogenesis.
Intraocular Pressure – All That Is Raised Is Not Glaucoma
Authors: Tripathi Ajay , O’Donnell Niall P.
Published: April 2003

Increased intraocular pressure invariably sets our mind in the direction of either establishing or ruling out the diagnosis of glaucoma and in the process, sometimes, certain hidden factors may escape our attention, leading to some delay in delivering the specific treatment to the patient. We present a case whose underlying pathology remained obscured for more than 10 years before we examined this patient and discovered the hidden secret.
Deep Lamellar Keratoplasty
Authors: Trimarchi Fernando , Poppi Elisa , Klersy Catherine , Piacentini Cesare
Published: April 2003

Purpose: To describe a new technique of lamellar surgery and to compare the results of 150 cases treated with this technique with those observed in as many cases of penetrating keratoplasty (PK). Patients and Methods: One hundred and fifty deep lamellar keratoplasty (DLKP) procedures were performed in patients affected by various diseases of the corneal stroma but having a preserved endothelium. Each case was matched with a patient of similar age, gender and pathology who had undergone PK. The following parameters were evaluated: number of rejection episodes, density of endothelial cells, degree of ophthalmometric astigmatism, visual acuity and ocular tension. Statistical analysis was performed with Student’s t test to compare patients in a similar clinical setting. Results: No rejection episodes were recorded in the 150 patients who underwent DLKP surgery, whereas rejections occurred in 4% of the patients after PK. A statistically significant higher density of endothelial cells was found in DLKP cases, who also experienced a lower degree of astigmatism than PK patients. A slight but significant improvement in visual acuity was achieved in DLKP patients. Conclusion: Our results confirm that DLKP is the preferential procedure when no endothelial damage is involved.
Congenital Hypertrophy of the Retinal Pigment Epithelium and APC Mutations in Chinese with Familial Adenomatous Polyposis
Authors: Pang C.P. , Fan D.S.P. , Keung J.W.Y. , Baum L. , Tang N.L.S. , Lau J.W.Y. , Lam D.S.C.
Published: April 2003

Mutations in the adenomatous polyposis coli gene (APC) often cause both congenital hypertrophy of the retinal pigment epithelium (CHRPE) and familial adenomatous polyposis (FAP). To investigate the relationship between APC mutations, CHRPE and FAP, all FAP patients at the Prince of Wales Hospital, Hong Kong, were asked to participate in a study. Ten Chinese patients from 6 kindreds and their family members volunteered, along with 12 healthy control subjects selected among hospital visitors and staff. All were examined for dilated fundus by indirect ophthalmoscopy. Mutations in APC coding exons were detected by sequencing. In one FAP patient, a novel A insertion at codon 1023 was detected. Three previously reported mutations were detected in 6 FAP patients: a deletion of ACAAA at codon 1061, and 2 truncating point substitutions at codons 216 and 283. In 3 FAP patients, no APC mutation was found, suggesting that mutations in APC coding regions are not the sole cause of FAP or CHRPE. A total of 64 CHRPE lesions were found in FAP patients and some relatives with and without APC mutations. Contrary to most reports, APC mutations before exon 9 did cause CHRPE lesions, albeit relatively few.
Occult Choroidal Neovascularization in Adult-Onset Foveomacular Vitelliform Dystrophy
Authors: Da Pozzo Stefano , Battaglia Parodi Maurizio , Toto Lisa , Ravalico Giuseppe
Published: April 2003

Aims: To report 6 cases in which indocyanine green angiography (ICGA) failed to convert occult choroidal neovascularization (CNV) into well-defined CNV in adult-onset foveomacular vitelliform dystrophy (AOFVD). Methods: Patients with AOFVD observed from 1993 to 1999 were prospectively followed up. Whenever the development of CNV was suspected, ICGA was performed to detect the precise location and extension of CNV by means of the IMAGEnet System. Results: Six out of 51 patients (11.7%) developed CNV during the follow-up. The CNV was of the occult type, with an associated detachment of the pigment epithelium in 1 eye. On ICGA, a large hyperfluorescent lesion appeared after about 10 min, irregularly increasing with time, without a clear visualization of site and extension of CNV. Conclusions: In AOFVD, ICGA may fail to convert occult CNV into well-defined CNV, which is amenable to laser treatment, since hyperfluorescence caused by the probably vitelliform material binding to the ICG molecule and the CNV-induced hyperfluorescence cannot be angiographically distinguished from each other.
Mirror Image Myopic Anisometropia in Two Pairs of Monozygotic Twins
Authors: Okamoto Fumiki , Nonoyama Tomohito , Hommura Sachiko
Published: April 2003

Two sets of monozygotic twins with mirror image myopic anisometropia are reported. The first set were two boys aged 1 year 8 months. There was a right eye myopic anisometropia in one twin, and a left eye myopic anisometropia in the other. The differences in refractive power between both eyes were 11.6 and 7.6 dpt, respectively (spherical equivalent). The second set were two 6-year-old boys. The right eye had myopic anisometropia in one twin, while the left eye was affected in the other. The differences in refractive power between both eyes were 6.5 and 3.7 dpt, respectively (spherical equivalent). Exotropia was recognized in 3 cases. Previously only two sets of monozygotic twins with mirror image myopic anisometropia have been reported. Monozygotic twins with mirror image myopic anisometropia are extremely rare.
Location of Resistance Arteries
Authors: Christensen Kent L. , Mulvany Michael J.
Published: April 2003

Thickening and narrowing of resistance arteries must, by definition, be key elements in the control of the cardiovascular system. However, the precise location of resistance arteries is difficult to establish. This is due to technical problems related to the small size of the vessels, to the measurement conditions disturbing the hemodynamics, and to the status of the animals while the measurements are being made. Furthermore, due to large data heterogeneity, previous studies do not give unequivocal information concerning the pressure profile in the vascular system, or the level of arterial diameter responsible for blood flow. Finally, and importantly, there is little evidence regarding the conscious state, which is thus a major limitation to understanding the mechanisms of blood distribution and the pathogenesis for disease processes such as genetic hypertension. This review first summarizes briefly the techniques which are available for identifying resistance arteries and the inherent technical limitations which are involved. The review then provides a critical assessment of the available data, both as regards measurement of local blood pressures and as regards control of peripheral resistance. The evidence suggests that, at least as regards rats and other small animals, feed arteries as well as more distal microvessels contribute to the maintenance and regulation of blood flow and resistance. Evidence from larger animals is however lacking, and it is thus unclear if resistance function should be based on arterial diameter or anatomic location. Furthermore, evidence concerning man is not available. We therefore conclude the review with suggestions for future research in this area.
Study of Temporal and Perfusion Physiology of Skin Capillaries in the Dorsum of the Foot
Authors: Lamah M. , Mortimer P.S. , Dormandy J.A.
Published: April 2003

The aim of this study was twofold: firstly, to study the nature of any temporal variation in capillary numbers, and secondly to determine the proportion of perfused to total nutritional capillaries in normal skin. Using in vivo microscopy, the temporal behaviour of the number of visible capillaries in the skin of the dorsum of foot was observed over periods of time varying from 5 min to 55 days in 15 healthy subjects. Capillary perfusion was then studied by comparing capillary numbers before and after intravenous injection of sodium fluorescein. The mean percent difference in the number of visible capillaries over a mean period of 25.3 days was 5.5%. The percentage ratio of perfused to total capillaries was 54.2%. This study shows that there is little quantitative change in capillary numbers over periods of up to 50 days, and that under physiological conditions, about half of the nutritional capillaries of skin are not perfused.
Assessing the Homogeneity of the Elastic Properties and Composition of the Pig Aortic Media
Authors: Stergiopulos N. , Vulliémoz S. , Rachev A. , Meister J.-J. , Greenwald S.E.
Published: April 2003

Most previous studies of arterial wall elasticity and rheology have assumed that the properties of the wall are uniform across the thickness of the media and, therefore, that the relationship between stress and strain may be described by a constitutive equation based on a single strain energy function. The few studies where this assumption has been questioned, focussed on differences between the adventitia and the media rather than on differences within the media itself. Here, we report in vitro elasticity and residual strain measurements performed separately on the inner and outer half of the pig aortic media, together with a histomorphometric assessment of the radial distribution of elastin, collagen and smooth muscle cell numbers. Although we found that the pressure-diameter relationships of the two halves were dissimilar, when allowance was made for their different unloaded dimensions, their material properties agreed closely, a result in keeping with the observed uniform radial distribution of scleroprotein and vascular smooth muscle. We also found a difference in the opening angle (which is often taken as a measure of residual strain) between the inner and outer medial halves. However, strain analysis showed that the opening angle is an extremely sensitive measure of residual strain and that the difference in the actual magnitudes of residual strain between the two halves of the media was small. We conclude that the media of the porcine thoracic aorta has similar elastic properties throughout its thickness and that this uniformity is matched by a uniform distribution of matrix protein and vascular smooth muscle cells. Furthermore, the distribution of strain in the media can adequately be described by a single-layer model with uniform elastic properties throughout its thickness.
The Time Course of Tumor Necrosis Factor-α, Inducible Nitric Oxide Synthase and Vascular Endothelial Growth Factor Expression in an Experimental Model of Chronic Myocardial Infarction in Rats
Authors: Heba Grzegorz , Krzemiński Tadeusz , Porc Maurycy , Grzyb Joanna , Ratajska Anna , Dembinska-Kiec Aldona
Published: April 2003

An injury to the heart due to myocardial infarction may progress to heart failure. Among the cytokines and growth factors whose interactions promote remodeling of the heart, increased expression of tumor necrosis factor (TNF)-α, inducible nitric oxide synthase (iNOS) and vascular endothelial growth factor (VEGF) has been found. However, little is known about the sequence of gene expression during the progression of heart injury. In the present study, male Sprague-Dawley rats were used for experimental myocardial infarction performed by ligation of the left anterior descending coronary artery. TNF-α, iNOS and VEGF expression was assessed by reverse transcription polymerase chain reaction. Localization of TNF-α, VEGF and iNOS protein was assessed by immunohistochemistry. An in vitro proliferation (BrdU incorporation) and differentiation (tube formation) assay of human umbilical vein endothelial cells was performed. The expression of TNF-α, iNOS, VEGF164 and VEGF188 was observed during the whole period after myocardial infarction (on days 1, 4, 11, 28 and 40), whereas VEGF120 was found only on day 1 and 4. The most intense immunostaining for TNF-α was observed at the border zone. The iNOS immunostaining was initially located in the endothelium, whereas later it was also present in the walls of larger vessels. The VEGF protein was present in the border zone. No gene expression or immunostaining was detected in sham-operated rats. The in vitro experiments showed both proangiogenic (low TNF-α concentration, short period of incubation) and antiangiogenic (high TNF-α concentration, long period of incubation) effects of TNF-α. The expression of TNF-α and iNOS genes with the concomitant occurrence of a decrease in VEGF120, VEGF188 and VEGF164 protein could be related to insufficient angiogenesis and may suggest the possible involvement of these events in remodeling after myocardial infarction.
Protein Transfection of Intact Microvessels Specifically Modulates Vasoreactivity and Permeability
Authors: Tinsley John H. , Zawieja David C. , Wu Mack H. , Ustinova Elena E. , Xu Wenjuan , Yuan Sarah Y.
Published: April 2003

Precise regulation of microvascular tone and barrier function is essential for proper coronary perfusion and performance. Agonist-induced alterations in either or both of these functions ultimately lead to microcirculatory dysfunction and cardiac insufficiency. Two important pathways involved in regulating vasomotor response and barrier function are the activation of nitric oxide synthase (NOS) and upregulation of protein kinase C (PKC). To date, studies of these two signaling proteins have relied mainly on pharmacological approaches. Unfortunately, the specificity of various inhibitors can be cause for concern. In order to address this problem, a protein transfection technique we developed for cultured endothelial cells has been modified and applied to isolated, intact coronary microvessels. Our results from green fluorescent protein transfection in arterioles and venules showed that this procedure could be used to introduce proteins into the microvascular wall. By transfecting inhibitor peptides against NOS and PKC into coronary arterioles and venules, we have been able to determine the specific roles of these two enzymes in vasodilation and hyperpermeability responses.
Lactosylceramide Mediates Shear-Induced Endothelial Superoxide Production and Intercellular Adhesion Molecule-1 Expression
Authors: Yeh Li-Hong , Kinsey Adam M. , Chatterjee Subroto , Alevriadou B. Rita
Published: April 2003

Laminar shear stress activates NADPH oxidase in vascular endothelial cells (ECs), and the generated superoxide radicals (O2–·) are known to be involved in intercellular adhesion molecule (ICAM)-1 expression. In this study, the role of a glycosphingolipid (GSL), lactosylceramide (LacCer), as a second messenger in the shear-induced O2–· generation and ICAM-1 expression was examined. It is known that glucosylceramide synthase (GlcT-1) catalyzes the synthesis of glucosylceramide (GlcCer) from ceramide, and subsequently lactosylceramide synthase (GalT-2) synthesizes LacCer from GlcCer. We observed that exposing cultured human umbilical vein ECs (HUVECs) to fluid shear stress (20 dyn/cm2 for 30 min) activated GalT-2. Shear stress also increased EC O2–· generation, that peaked at 30 min, and surface ICAM-1 protein expression at 6 h post-shear. EC preincubation with the antioxidant N-acetylcysteine (NAC; 20 mM for 2 h) completely abolished the shear-induced O2–· production and significantly inhibited ICAM-1 expression. EC preincubation with D-1-phenyl-2-decanoylamino-3-morpholino-1-propanol (D-PDMP), an inhibitor of the GSL glycosyltransferases GlcT-1 and GalT-2, abrogated the shear-induced activation of GalT-2. D-PDMP also abolished the shear-induced O2–· production and ICAM-1 expression. We conclude that laminar shear stress activates GalT-2 to produce LacCer. In turn, LacCer activates NADPH oxidase, which produces O2–·, and O2–· mediates the shear-induced increase in ICAM-1 expression. Thus, LacCer may play an important role in hemodynamic force-induced pathological conditions, such as atherosclerosis and ischemia/reperfusion injury.
Effect of Progesterone on Peripheral Blood Flow in Prepubertal Female Anesthetized Pigs
Authors: Molinari C. , Battaglia A. , Grossini E. , Mary D.A.S.G. , Surico N. , Vacca G.
Published: April 2003

This study was undertaken to determine the effects of progesterone on the peripheral circulation. In prepubertal female pigs anesthetized with sodium pentobarbitone, changes in the superior mesenteric, left renal and left external iliac flow caused by intravenous infusion of progesterone were assessed using electromagnetic flow meters. Changes in heart rate and arterial blood pressure were prevented by atrial pacing and by connecting the arterial system to a pressurized reservoir containing Ringer solution. In 20 pigs, infusion of 1 mg/kg of progesterone increased mesenteric, renal and iliac flow. In a further 4 pigs, the vasodilatory effects of the hormone were enhanced by graded increases in the dose between 1, 2 and 3 mg/kg. The mechanisms of these responses were studied in the 20 pigs by repeating the experiment after hemodynamic variables had returned to the control values before infusion. In 5 pigs, blockade of adrenergic receptors with propranolol and phentolamine did not affect the responses elicited by progesterone. The increases in mesenteric, renal and iliac flow to progesterone were prevented, respectively, by the injection of Nω-nitro-L-arginine methyl ester into the mesenteric (5 pigs), the renal (5 pigs) or the iliac artery (5 pigs). The present study shows that intravenous infusion of progesterone dilated mesenteric, renal and iliac circulations. The mechanism of this response involved the release of nitric oxide.
Community Genetics in Latin America: Challenges and Perspectives
Authors: Penchaszadeh Victor B.
Published: April 2003

Latin America is a region of medium-to-low income countries with health indicators in transition towards patterns seen in developed countries, with growing importance of birth defects and genetic disorders as causes of morbidity and mortality. Over the past 20 years, tertiary-care-based genetic services have been developing in urban areas, although their population impact is still very low. Cuba is an exception, as genetic services were conceived from the beginning as primary-care-based and with specific community health objectives. Clinical geneticists in the region have recently began a trend towards extending genetic services to the community, with lukewarm support from state public health officials.
Empowering the Public to Be Informed Consumers of Genetic Technologies and Services
Authors: Terry Sharon F. , Davidson Mary E.
Published: April 2003

Objective: The genetics community, together with lay advocacy organizations and the general public, should strategically plan a focused, culturally competent, community-based public genetic literacy program. Methods: Inclusive of all stakeholders (consumers, professionals, disability communities, disenfranchised communities), society can advance this objective through a proactive, focused and coordinated outreach to build public awareness and understanding. Results: Genetic Alliance programs support consumers with genetic disorders, raise health professional awareness of their concerns, educate the public about emerging genetic information and technologies, increase access to high quality information resources, and advocate for public policies that ensure the promises of genetics. Conclusion: The challenge before the genetics community is to be proactive, clear, and inclusive. The public should be empowered to make informed choices, allowing the potential benefits of genetic technologies and services to become manifest in improved healthcare and quality of life.
Population Genetics and Benefit Sharing
Authors: Knoppers Bartha Maria
Published: April 2003

The majority of international or national guidelines, specific to human genetics concentrate on actual or potential clinical applications. In contrast, the Ethics Committee of the Human Genome Organisation (HUGO) attempts to provide guidance to the bench scientists engaged in fundamental research in genomics prior to any clinical applications. Often confused as constituting the Human Genome Project (HGP) itself, HUGO’s (Human Genome Organization) ultimate goal is to assist in the worldwide collaboration underpinning the HGP. It is an international organisation with 1,229 members in approximately 60 countries. The Ethics Committee is one of HUGO’s six international advisory committees. Composed of experts from a number of countries and disciplines, the HUGO Ethics Committee promotes discussion and understanding of social, legal, and ethical issues as they relate to the conduct of, and knowledge derived from, the Genome Initiative. Currently, it has 13 members from 11 different countries. It has produced statements on the conduct of genetic research, on cloning, and, has most recently presented a ‘Statement on Benefit-Sharing’, April 11, 2000. The Intellectual Property Committee of HUGO has been active in the controversial area of patenting. The issue of benefit-sharing is one that has its source in the mandate of both committees. How to avoid both commodification of the person through payment for access to DNA and biopiracy with no return of benefits to the families or community? While patents are a legitimate form of recognition for innovation, there seems to be no therapeutic exception to some of its stringent rules and the ‘morality’ exclusion has lain dormant. The HUGO ‘Statement on Benefit-Sharing’ examines the issues of defining community, common heritage, distributive justice and solidarity before arriving at its conclusions in benefit-sharing. This communication reviews some of these issues.
The Human Genome Project, Genetics and Health
Authors: Baird Patricia
Published: April 2003

Three main reasons why a genetic approach is unlikely to be a solution to common diseases in the foreseeable future are discussed. The first is the great importance of environmental circumstances in determining health, the second reason is the great complexity of gene/gene, gene/environment interactions, and the third reason is human behavior with regard to compliance with medical recommendations. Since particular interests are likely to push for a genetic approach to disease, there will be a need to protect the public interest so that premature and inappropriate use of genetics is not made, and so that a balanced opportunity to better the health of all is not missed.