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Background: The glycoprotein IIIa (beta3 integrin) is an integral part of two glicoprotein receptors of platelets and, respectively, endothelium and vascular smooth muscle cells. The gene encoding the GPIIIa, a receptor for fibrinogen, vWF and fibronectin, shows polymorphism (PlA1/PlA2); the PlA2 allele has been associated with myocardial infarction, stroke and cardiovascular disease., Methods: Seven hundred and thirty-two subjects with type 1 diabetes and 605 subjects with type 2 were recruited. The prevalence of complications in type 1 diabetes was: microalbuminuria (uA) 17%, overt nephropathy (MA) 10%; background retinopathy (bR) 27%, proliferative retinopathy (pR) 22%; hypertension (HYP) 13%; coronary heart disease (CHD) 9%. The respective figures for type 2 diabetes were: uA 34%, MA 21%; bR 38%, pR 18%; HYP 80%; CHD 26%. A 247 bp fragment (exon 2) was amplified by PCR. For the detection of the point mutation CDGE (Constant Denaturing Gel Electrophoresis) after optimum denaturing conditions setting by DGGE (Denaturing Gradient GE) and/or RFLP by NciI digestion were employed., Results: In type 1 diabetes, PlA1PlA1/PlA1PlA2 distribution was 77/23%. No differences were found among normoalbuminuric (nA: 76/24%), microalbuminuric (uA: 79/21%) and macroalbuminuric subjects (MA: 75/25%, p=0.79) as well as among subjects with no retinopathy (Ret-) (74/26%), bR (76/24%) and pR (78/22%, p=0.81), and between HYP- (78/22%) and HYP+ (72/28%, p=0.27) as well as CHD- (76/24%) and CHD+ (75/25%, p=0.72). Systolic blood pressure, HbA1c and retinopathy were independent predictors of nephropathy. No contribution of diastolic BP, sex, BMI, duration of diabetes and PlA2 allele was found for the risk of nephropathy. In type 2 diabetes, PlA1PlA1/PlA1PlA2/PlA2PlA2 distribution was 74.4/23.3/2.3%, with no differences foud among nA (73/25/2%), uA (75/23/2%) and MA (81/17/2%, p=0.66). No significant difference was detected among subjects with Ret- (74/22/4%), bR (77/22/1%) and pR (77/22/1%, p=0.62). Also, no differences were found between HYP- (81/17/2%) and HYP+ (74/24/2%, p=0.28) as well CHD- (76/22/2%) and CHD+ (74/24/2%, p=0.93). Systolic BP, HbA1c, presence of retinopathy, gender and BMI were independent predictors of nephropathy. Diastolic BP, duration of diabetes and PlA2 allele did not contribute to the risk of nephropathy., Conclusions: The PlA1/PlA2 polymorphism of the GPIIIa gene does not contribute to the development of nephropathy or retinopathy in type 1 and type 2 diabetes. Furthermore, no association was found between the PlA1/PlA2 polymorphism, hypertension, and coronary heart disease.

Objective: Cytochrome P450 (CYP) 2J2 plays an important role in the biosynthesis of the biologically active cis-epoxyeicosatrienoic acids. An allelic variant named CYP2J2*6, which encodes an enzyme that is almost inactive in the metabolism of arachidonic acid, has recently been described. We investigated the frequency of the CYP2J2*6 variant in a Caucasian population and the relationship between this polymorphism and the development of micro- and macrovascular complications and hypertension in patients with type 1 or type 2 diabetes mellitus., Methods: Genomic DNA was extracted from peripheral blood cells and the fragment containing the A/T single nucleotide polymorphism at position 25 661 in exon 8 of the CYP2J2 gene was amplified. The 532 bp amplified product was subsequently digested with Tsp509I and analyzed on 12% polyacrylamide gel electrophoresis., Results: In the whole population, the frequency of the CYP2J2*6 allele was 0.0064 and the frequency of the CYP2J2*1 allele was 0.9936. Genotype distribution did not show significant differences between controls and patients with type 1 or type 2 diabetes. No homozygotes for CYP2J2*6 allele were found. No association was found between this allele and complications or hypertension in either type of diabetes., Conclusion: The CYP2J2*6 allele is rare in the Caucasian population, and no association is inferred between this allelic variant and diabetic complications.

A large number of hDAF transgenic pigs to be used for xenotransplantation research were generated by using sperm-mediated gene transfer (SMGT). The efficiency of transgenesis obtained with SMGT was much greater than with any other method. In the experiments reported, up to 80% of pigs had the transgene integrated into the genome. Most of the pigs carrying the hDAF gene transcribed it in a stable manner (64%). The great majority of pigs that transcribed the gene expressed the protein (83%). The hDAF gene was transmitted to progeny. Expression was stable and found in caveolae as it is in human cells. The expressed gene was functional based on in vitro experiments performed on peripheral blood mononuclear cells. These results show that our SMGT approach to transgenesis provides an efficient procedure for studies involving large animal models.

Partial or complete duplication of 5p is a rare chromosomal abnormality in which genotype-phenotype correlation studies are hampered by other commonly associated chromosomal abnormalities. We report on a new patient in whom a complete de novo trisomy 5p in all metaphases represented the only chromosomal aberration. The present case further contributes to delineate the typical clinical picture of the trisomy 5p syndrome. Long-term clinical follow-up demonstrated low levels of secretory immunoglobulin A (IgA) on several occasions and likely related to the patient's recurrent respiratory infections (RRIs), a main clinical feature of the trisomy 5p syndrome. An extensive neuroradiological study detected a progressive triventricular hydrocephalus during the fist year of life with subsequent stabilization. Neuronal migration disorders were also present and probably account for the drug-resistant epilepsy presented by the patient., (Copyright 2002 Wiley-Liss, Inc.)

Background: Neuronal intranuclear inclusion disease (NIID), a multiple-system degeneration, occurs usually as a sporadic disorder with onset in childhood. The disease has been found in monozygotic twins and in siblings. In 2 previously described families, the disorder has affected 2 generations., Objective: To investigate the clinical, anatomical, and electrophysiological characteristics of NIID that affect the central nervous system and the central and peripheral components of the autonomic nervous system in 2 successive generations of a family., Design: Case report., Setting: Tertiary care hospital., Patients: A 53-year old woman and her sons, aged 28 and 25 years. Symptoms began in childhood in 2 of the 3 cases, and consisted of urinary and fecal incontinence, erectile dysfunction in the men, and recurrent orthostatic hypotension., Methods: We used results of clinical neurological evaluations; cranial magnetic resonance imaging; skeletal muscle and sphincter electromyography (EMG); peripheral nerve conduction and bulbocavernosus reflex studies; autonomic function tests; brainstem, visual, somatosensory, and motor evoked potentials; auditory and vestibular testing; metabolic and molecular genetic testing; and muscle and rectal biopsy with immunohistochemistry., Results: We found variable degrees of ocular dysmetria in 2 cases, ataxic dysarthria and limb ataxia in 1, and hyperreflexia in 2. Magnetic resonance imaging revealed cerebellar atrophy in all 3 cases and diffuse cerebral cortical atrophy in 1. Results of peripheral nerve conduction studies were normal. Sphincter EMG findings were abnormal in 2 of the 3 cases, and results of autonomic function tests were abnormal in the same 2. The EMG in 1 case revealed a chronic neurogenic pattern in the distal limb muscles. Metabolic and molecular genetic testing revealed no abnormal findings. Results of the muscle biopsy were negative, but results of the rectal biopsy revealed eosinophilic ubiquitinated intranuclear inclusions in neurons., Conclusion: Transmission of NIID in 2 generations presenting with autonomic failure and cerebellar ataxia was hereditary.

Aims: To report on the reproducibility of iohexol glomerular filtration rate (GFR) estimation, to compare the plasma clearance of iohexol with that of[51Cr]EDTA and to evaluate the reliability of reduced sampling schedules in estimating GFR in Type 1 and Type 2 diabetes mellitus., Methods: Agreement was assessed in 15 Type 1 and 26 Type 2 diabetics with creatinine ranging from 53 to 564 micromol/l., Results: The regression between multiple-sample iohexol and[51Cr]EDTA clearances was 0.999 in Type 1 and 0.987 in Type 2 diabetes (P < 0.0001 for both). A seven-sample design and the three-sample approach by Brøchner-Mortensen were validated by comparison with the full-sample schedule in 87 patients (51 Type 1, 36 Type 2). Full-sample GFR was 80.3 +/- 43.8, seven-sample 79.5 +/- 43.9 (r = 0.990) and three-sample 79.8 +/- 45.2 ml.min-1.1.73 m-2 (r = 0.972). The coefficients of variation of GFR were 2.7 +/- 1.4% and 3.8 +/- 1.9% for the full-sample and the seven-sample approaches, respectively, and significantly higher for the three-sample design (6.9 +/- 3.4%, P = 0.0001)., Conclusions: After iohexol injection, the Brøchner-Mortensen schedule does not provide an accurate estimate of GFR. The seven-sample approach gives acceptable errors and allows a good estimate of GFR throughout a wide range of renal function.

The clinical and laboratory data of four pediatric patients and one adult patient with inverted duplication (inv dup) (15) are reported. The most evident findings were dysmorphic features with frontal bossing; genital abnormalities, such as macropenis or hypospadias; mental retardation; autistic behavior; and seizures. Two additional adults with inv dup (15) from other institutions were also diagnosed in our laboratory. Seizures and mental retardation were the reasons for their referral. The clinical picture of inv dup (15) seems to be quite variable since the phenotype can also be normal. However, karyotyping and fluorescent in-situ hybridization, focused in particular on chromosome 15, appear to be indicated in patients with dysmorphic phenotypes, such as the one present in our patients, and in subjects with early-onset seizures and psychomotor retardation with autistic features.

Central precocious puberty (PP) can be caused by chromosomal aberrations. We report three patients presenting with central PP in whom karyotype analysis demonstrated abnormal chromosomal patterns. The first patient was affected by the triple-X syndrome, commonly characterized by premature ovarian failure. The second patient, a girl with inv dup(15)(pter-->q12::q12-->pter), had a chromosomal aberration involving an imprinted region of the human genome, whose deletion is commonly associated with Prader-Willi syndrome (PWS) and hypogonadotrophic hypogonadism. The third patient was a boy carrying a rare chromosome abnormality, the duplication of chromosome 9 (q22-->qter). All patients had mental retardation, which was mild in patient 1, moderate in patient 2, and severe in case 3. They underwent treatment with luteinizing hormone releasing hormone (LHRH) analogs, which were able to stop the progression of the sexual development. We confirm that chromosomal aberrations are an important cause of central PP, and that karyotype analysis in patients with PP and mental retardation, even if mild, is necessary because chromosomal abnormalities can be present.

Objective: To estimate the potential exposure of black adolescents to brand specific advertising in magazines., Design: A probit regression analysis was conducted of pooled 1990 and 1994 data on brand specific advertising in 36 popular US magazines to examine the relationship between the presence or absence of advertising in each magazine for each of 12 cigarette brands, and the proportion of each magazine's youth (ages 12-17 years) readers who were black., Main Outcome Measures: The presence or absence of advertising in each magazine in 1990 and 1994, for each of 12 cigarette brands., Results: After controlling for total magazine readership and the percentage of young adult, Hispanic, and female readers, black youth cigarette brands (those whose market share among black youths exceeded their overall market share) were more likely than other brands to advertise in magazines with a higher percentage of black youth readers. Holding all other variables constant at their sample means, the probability of a non-black youth brand advertising in a magazine decreased over the observed range of percentage black youth readership from 0.65 (95% confidence interval (CI) 0.55 to 0.75) for magazines with 5% black youth readers to 0.33 (95% CI 0.00 to 0.69) for magazines with 91% black youth readers. In contrast, the probability of a black youth brand advertising in a magazine increased from 0.40 (95% CI 0.17 to 0.62) at 5% black youth readership to 1.00 (95% CI 0.97 to 1.00) at 91% black youth readership., Conclusions: Black youths are more likely than white youths to be exposed to magazine advertising by cigarette brands popular among black adolescents.

A 7-year-old boy was referred because of a sudden change to nasal speech, dysarthria for words with explosive consonants in speech, and nasal regurgitation of fluids. The symptoms arose over 1 week following a capricious episode of acute asthmatic bronchitis. Physical and neurologic examinations were normal except for a left deviation of the uvula, accompanied by a "curtain" movement of the posterior pharyngeal wall against the opposite side, and a left deviation of the protruded tongue. No vascular, traumatic, infectious, neoplastic, or neurologic causes could be identified. No therapy was administered. Full recovery occurred 4 months later. The diagnosis was idiopathic vagal and right hypoglossal nerve palsy (Bell's palsy).

Background: Despite the potential influence of cigarette advertising on youth smoking, few studies have characterized brand-specific magazine advertising exposure among youths or examined its impact on youth smoking behavior., Methods: A longitudinal youth survey was conducted to assess baseline exposure to brand-specific cigarette advertising in magazines and to measure subsequent smoking behavior. The sample comprised 1,069 Massachusetts youths, ages 12-15 years at baseline in 1993, and 627 of these youths who were interviewed after 4 years., Results: Five brands accounted for 81.8% of the gross impressions for magazine advertising among Massachusetts youths. These same brands accounted for 88.4% of the brand market share among 12- to 15-year-old smokers nationally in 1993. The levels of brand-specific advertising exposure in the sample were highly correlated with these national brand market shares (r = 0.96, P = 0. 0002). Among the cohort, baseline brand-specific exposure to cigarette advertising in magazines was highly correlated with brand of initiation among new smokers (r = 0.93, P = 0.0001), brand smoked by current smokers (r = 0.86, P = 0.0004), and brand whose advertisements attracted attention the most (r = 0.87, P = 0.0002)., Conclusion: By documenting a relationship between brand-specific magazine advertising exposure and brand of smoking initiation among new smokers, this study provides strong new evidence that cigarette advertising influences youth smoking., (Copyright 1999 American Health Foundation and Academic Press.)

In order to evaluate which diagnostic criteria can be indicative for an early diagnosis of Angelman syndrome (AS), 144 children with severe epilepsy and mental retardation were evaluated. In 10 of them the diagnostic criteria indicated by Williams were present. Of the remaining 134 patients we were able to diagnose one 15-year-old patient with AS, on the basis of the EEG findings, even though the typical clinical features of the syndrome were absent. In all patients the diagnosis of AS was confirmed by fluorescent in situ hybridization (FISH) in 10 patients and by methylation analysis in one patient. AS is very likely when both typical clinical and EEG findings are present. Nevertheless, it must be considered in all patients affected by severe epilepsy and mental retardation, when the EEG pattern is sufficiently indicative, and FISH and/or molecular analysis should be performed even in absence of typical clinical signs.

Approximately 30% of diabetic patients develop nephropathy, the appearance of which is partially under genetic control. Atrial natriuretic peptide (ANP) has associated physiologic effects on the kidney. This study was conducted to examine the relationship between a newly identified and known polymorphism at the pronatriodilatin (PND) gene locus and renal involvement in type 1 diabetic subjects. Of 454 type 1 diabetic patients (219 men, 235 women), 323 showed no sign of nephropathy, 79 had incipient renal involvement, and 52 established nephropathy; 58 healthy control subjects were examined for comparison. Allele frequencies (C708 versus T708) were: 0.95 and 0.05 in normoalbuminuric patients, respectively; 0.88 and 0.12 in microalbuminuric patients; 0.96 and 0.04 both in those with overt nephropathy and in healthy control subjects (P = 0.011). Patients with incipient nephropathy were in disequilibrium compared with the total diabetic cohort (P = 0.02). In the same populations, an additional genotype for ScaI polymorphism of the PND gene was tested. The A1 and A2 allele frequencies were: 0.21 and 0.79 in normoalbuminuric patients; 0. 13 and 0.87 in microalbuminuric patients; 0.06 and 0.94 in type 1 diabetic subjects with overt nephropathy; and 0.20 and 0.80 in healthy control subjects, respectively (P < 0.0001). A subset of 55 normotensive patients with type 1 diabetes, well matched for clinical features, plasma ANP levels, and microvascular permeability to macromolecules, was investigated on the basis of the C708/T and A2/A1 polymorphisms. Both transcapillary escape rate of albumin (TERalb) and plasma ANP levels were significantly lower in patients with the T708 than with C708 allele, as well as in the A1 than in A2 allele (TERalb: T708 versus C708: 5.5+/-1.7 versus 7.8+/-2.0%/h, P = 0.0001; plasma ANP levels: 8.3+/-3.9 versus 15.3+/-7.7 pg/ml, P = 0.0003; A1 versus A2: 6.05+/-2.2 versus 7.3+/-2.1%/h, P = 0.044; 8.53+/-4.6 versus 14.5+/-7.4 pg/ml, P = 0.0024, respectively). Thus, in a large ethnically homogeneous cohort of diabetic subjects, our data show: (1) a significant association of C708/T polymorphism with microalbuminuria in long-term diabetes and with both lower plasma ANP levels and widespread albumin leakage; and (2) a strong association between ScaI polymorphism and both diabetic nephropathy and plasma ANP concentrations. These results suggest a possible role of PND gene in conferring protection from nephropathy and microvascular damage in type 1 diabetes.

Prader-Willi Syndrome (PWS) is a multisystem defect characterized by obesity, hypogenitalism and short stature for genetic background. Low GH serum levels have been found in patients with PWS and were related to a hypothalamic-pituitary dysfunction. We studied spontaneous nocturnal GH secretion and GH-response to provocative tests in five patients affected by PWS. We observed in three of them (Group A) abnormally low GH and IGF-1 serum levels. In the other two patients (Group B) GH secretion and IGF-1 serum levels were normal. In all patients no thyroid dysfunction was observed. These data might suggest the presence of two different subgroups of patients affected by PWS, from an endocrinological point of view. An abnormally low GH secretion would be evident only in a subgroup of patients, which appears to be normal in the remaining patients. This casistic is small in number, but if our data will be confirmed by more extensive studies it may be possible to identify a specific population of PWS patients who could benefit from recombinant GH-therapy.

The plasma clearance of iohexol has recently been proposed as a new method for estimating GFR. The iohexol plasma clearance was compared with that of 51Cr-EDTA in 32 diabetic patients (12 IDDM, 20 NIDDM; age 23-70; diabetes duration 1-35 years) with normal to impaired renal function (serum creatinine: 0.8-6.4 mg/dL). Bolus i.v. injection of 51Cr-EDTA (1 muCi/kg) was followed by 5 mL slow i.v. injection of Omnipaque (Nycomed, Oslo, Norway). Samples for radioactivity and iohexol analysis were drawn at 0, 5, 10, 15, 30, 60, 90, 120, 150, 180, 210, 240, 270, 300 min (+360 and 420 min if serum creatinine > 2.0; +1440 min if > 5.0 mg/dL). Iohexol was assayed in duplicate by HPLC throughout a Nova-Pak C18 column (Waters-Millipore, USA). Only the second peak obtained during elution of iohexol (about 4.5 min) was used for calculation. Dilution tests show highly linear regressions for concentrations between 3.25-650 micrograms/mL (r = 0.99). Imprecision of iohexol assay (the whole procedure from deproteinization to chromatography) was: intra-assay 1.4 +/- 1.5%, mlsd (95% CI: 1.0-1.8%); inter-assay 3.0 +/- 2.7% (1.4-4.6%). Iohexol plasma clearance ranged between 12.9 and 150.9 mL/min, while 51Cr-EDTA plasma clearance between 11.9 and 149.8 mL/min with excellent correlation (iohexol = 0.95 51Cr-EDTA + 2.49; r = O.995). Mean CV between the two methods was 1.7% (range 0-4.9%) with a significant negative correlation (r = 0.5 I, p = 0.007) with the GFR levels. Correlation between repeated measurements, performed in eight patients, was excellent (r = O.994, P = 0.0001). In diabetes, GFR measured by plasma clearance of iohexol shows an excellent agreement with plasma clearance of 51Cr-EDTA throughout a wide range of renal function. Iohexol provides an accurate alternative method for measuring GFR.

The oxidation of cyclohex-2-en-1-ol, a simple model substrate for allylic alcohols, is catalyzed by several P450 isoenzymes and leads exclusively to cyclohex-2-en-1-one. No double bond epoxidation or C(4) hydroxylation have been observed. The large primary kinetic isotope effect measured using [2H]-1-cyclohex-2-en-1-ol is consistent with an at least partially rate limiting breaking of the C(1)-H bond. The mass spectrometric analysis of cyclohex-2-en-1-one obtained from [18O]cyclohex-2-en-1-ol has established that a gem-diol intermediate is involved, even if a dual hydrogen abstraction pathway may contribute to the reaction.

The prevalence of hypertension in diabetes is significantly higher than in non-diabetics, perhaps twice as common. The excess is related to diabetic nephropathy, mainly in type 1 diabetes, to obesity, mainly in type 2 diabetes, but also to increased sympathetic activity. Furthermore, the increased prevalence of hypertension may relate to insulin resistance and its sequelae. Insulin resistance leads to hyperinsulinemia, relates to increased LDL and reduced HDL levels, causes the development of impaired glucose tolerance and type 2 diabetes and might also be causally related to the onset of hypertension. Syndrome X has relevant therapeutic implications in the management of hypertension. Hypertension is a major risk factor for large vessel disease in diabetics and also a risk factor for microangiopathy, particularly nephropathy. The incidence of atherosclerotic disease is dramatically increased in both type 1 and type 2 diabetics and is the major cause of morbidity and premature death mainly in patients with raised urinary albumin excretion. Thus, diabetics show a two-fold increased risk of coronary heart disease, 2-6 fold increased risk of stroke and a several-fold increased risk of peripheral vessel disease. Some evidence suggests that hypertension may be a risk factor for retinopathy, particularly its progression, but surely hypertension is a significant risk factor for nephropathy, accelerating its progression and perhaps even causing the onset of the glomerulopathy. The mechanisms by which hypertension might contribute to the evolution of both large vessel as well as small vessel disease is still unknown, although increased capillary leakage and vascular endothelium alterations might be important factors.(ABSTRACT TRUNCATED AT 250 WORDS)

The authors report 32 patients admitted to the hospital with iatrogenic bile duct stricture. Cholecystectomy with or without bile duct exploration was the most frequent (84.3%) surgical procedure responsible for the lesion, followed by BII gastric resection. Six patients had undergone one previous attempt at repair in another institution. Most patients had undergone a hepatojejunostomy, which has the procedure of choice in the last cases. Mortality and morbidity rates were 0 and 15%, respectively. The complications reported were a biliary fistula and 2 post-repair bile strictures that required one or more re-operations. During the follow-up 2 other patients developed episodes of cholangitis, treated medically. Clinical, diagnostic and therapeutic aspects of iatrogenic bile duct strictures are reviewed.

A theoretical model addressing worksite factors affecting health behaviors was applied to data from focus group interviews. Organizational factors that might have influenced implementation of restrictive smoking policies at two social welfare districts were identified. There was greater policy awareness at the district where active dissemination of information took place. However, greater policy awareness was not associated with patterns of on-the-job smoking or support for/barriers to quitting. Instead specific patterns associated with general organizational characteristics, job characteristics and work role stress emerged. Findings suggest that changes in policy formulation and application which take into account work itself and not only the worker are warranted.

Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients present mental retardation, hypotonia and facial dismorphisms. The different degree of mental retardation and the clinical signs are in relation to the different size of deletions or trisomies of the short or long arm of chromosome 18. In the case with mosaicism 18p-/iso18q the phenotype is determined from the chromosomal abnormality more frequent in the cells (18p-).

Pericentric inversion of chromosome 9 is one of the most common structural balanced chromosomal aberrations. It is considered as a paraphysiological variant of a normal karyotype and it is possible to find it as occasional report in healthy subjects. In the last ten years different signals have appeared in literature, concerning carriers of pericentric inversion of chromosome 9, who showed different anomalies of the clinical condition. Today it is difficult, because of the rarity of the data to establish if a true correlation exists between phenotypical anomalies in the subjects studied and the pericentric inversion, or if they are only casual associations. We are trying to find possible correlations between the chromosomal rearrangements and eventual congenital defects. We describe 11 subjects with pericentric inversion of chromosome 9 examined for the presence of dysmorphic signs, mental retardation and repeated miscarriage.

We report our observations about familial segregations of chromosomal aberrations: the simple forms and complex rearrangements. Congenital malformations and mental retardation, can be present both in unbalanced and in balanced translocations. Various hypotheses have been proposed to explain this phenomenon: in particular a possible "position effect" or genic mutation or genomic imprinting. In our study we have used both standard techniques and techniques with high resolution banding to investigate if the rearrangements were balanced or not. Molecular study and gene dosage have been used when possible, to define the correlation with the clinic phenotype.

One case of primary adenocarcinoma of the vermiform appendix is presented. The patient, a 55-year-old man, showed non specific symptoms and the diagnosis was made after surgery. Surgical treatment was right hemicolectomy. The patient is still alive and disease-free 12 months after the operation. The Authors review the literature and discuss some clinical aspects of this rare tumor.