Giant secreting adrenal myelolipoma in a man: a case report.

INTRODUCTION: Adrenal myelolipoma is a rare, benign neoplasm that is usually asymptomatic, unilateral and nonsecreting. It develops within the adrenal gland and is composed of mature adipose tissue with elements of the hematopoietic series. We describe the case of what is, to the best of our knowledge, one of the largest secreting adrenal myelolipomas reported in the literature. CASE PRESENTATION: A 52-year-old Caucasian man of medium build who had had moderate hypertension for three years presented to our hospital. He had no other significant symptoms. His hypertension was pharmacologically treated. He came to our hospital to undergo abdominal ultrasonography during a clinical checkup. The ultrasound scan showed the presence of a voluminous hyperechoic mass interposed between the spleen and the left kidney. It was reported as a myelolipoma of the left kidney on the basis of its structural characteristics and position. Computed tomography confirmed our diagnosis. All preoperative biochemical tests were normal, with the exception of high serum cortisol, which was being overproduced by the lesion and was probably responsible for the patient's hypertension. He underwent successful surgery, and his postoperative course was uneventful. The pathologic examination of the lesion confirmed the diagnosis of adrenal myelolipoma. The patient's blood pressure returned to within the normal range. CONCLUSIONS: The "incidental" discovery of an adrenal mass requires careful diagnostic study to plan adequate therapeutic management. Both of the primary investigations at our disposal, ultrasound and blood tests (adrenal hormones), helped in rendering the diagnosis and allowed us to move toward the most appropriate treatment, taking into account the size of the tumor and its probable hormonal production.

An atypical case of hepatic cavernous hemangioma.

INTRODUCTION: The case of an atypical hepatic angiocavernoma is referred. The lesion, first described as a hypoechogenic area compared to the surrounding parenchyma, with anechogenic shoots inside, suggestive for vascular structures developed one year later into a totally asonic area with frayed margins. This change is very unusual and uncommon for this kind of lesions. CASE PRESENTATION: The case of a 74-year old caucasian male, complaining of slight dyspeptic symptoms (post-prandial fullness and bloating) is referred. The routine blood tests were all normal. Abdominal ultrasound showed a large, roughly round-shaped lesion (diameter 14 cm) in the VIII hepatic segment diagnosed as hepatic angiocavernoma, which turned unexpectedly in a cystic like lesion one year later. CONCLUSION: The atypical angioma's degeneration could account for one of the causes of the patient's exitus. It could be related to blood seizure by the large hepatic angioma due to the intratumoural haemorrhage.

Ultrasonographic study of gallbladder wall thickness and emptying in cirrhotic patients without gallstones.

BACKGROUND AND AIM: Gallbladder wall thickening and impaired contractility are currently reported in cirrhotic patients and often related to portal hypertension and hepatic failure. The purpose of this work was to evaluate, by ultrasonographic method, gallbladder wall thickness and gallbladder emptying after a standard meal in normal subjects and in patients with compensated liver cirrhosis without gallstones. METHODS: Twenty-three patients with Child-Pugh class A liver cirrhosis and twenty healthy controls were studied. Gallbladder wall thickness (GWT), gallbladder fasting volume (FV), residual volume (RV), and maximum percentage of emptying (%E) were calculated. Measurements of mean portal velocity, portal vein flow, and serum albumin were performed too. Statistical analysis was assessed by Student's "t test" for unpaired data. RESULTS: GWT was 0.60 +/- 0.22 cm in cirrhotic patients and 0.21 +/- 0.06 cm in controls (P < .0001). FV and RV were, respectively, 37.8 +/- 3.7 cm(3) and 21.8 +/- 3 cm(3) in cirrhotic patients, 21.9 +/- 4.2 cm(3) and 4.6 +/- 2.2 cm(3) in healthy volunteers (P < .0001). %E was smaller in cirrhotics (42.6 +/- 7.8) as compared to controls (80.3 +/- 7.2; P < .0001). CONCLUSIONS: In patients with compensated liver cirrhosis without gallstones gallbladder wall thickness is increased whereas its contractility is reduced. These early structural and functional alterations could play a role in gallstone formation in more advanced stages of the disease.

Radioisotopic assessment of gastric emptying of solids in elderly subjects.

BACKGROUND AND AIMS: Few studies in literature have investigated the gastric emptying of solids in elderly subjects. We assessed the differences between young and elderly subjects in the gastric emptying rate of solids by a radioisotopic method. METHODS: Two groups of 15 elderly male subjects (mean age 68.20 years and 77.26 years, respectively) and a group of young male subjects (mean age 30.23 years) underwent a radioisotopic study of gastric emptying after eating a radiolabeled solid meal. Half-time of gastric emptying (T1/2) and emptying index (EI), i.e. rate of gastric emptying at 120 min, were measured with two opposing detectors connected to a computerized rate-meter. Results are expressed as means +/- SD. RESULTS: Significantly different values were obtained in the two groups both at T1/2 (183+/-88 and 195+/-75, respectively) and EI (0.40+/-0.3 and 0.36+/-0.4), compared with young subjects (T1/2=53+/-23; EI=1.10+/-0.3) (p<0.0001). CONCLUSIONS: Gastric emptying of solids is significantly delayed in elderly men; this variable must be taken into account when studies on gastric emptying rates are performed.

A novel mutation of the DHCR7 gene in a sicilian compound heterozygote with Smith-Lemli-Opitz Syndrome.

INTRODUCTION: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis, resulting from deficient 7-dehydrocholesterol reductase (3beta-hydroxysterol Delta7-reductase) activity, the enzyme responsible for conversion of 7-dehydrocholesterol to cholesterol. SLOS is most common among people of European descent, with a reported incidence of 1 per 20,000-60,000 newborns, depending on the diagnostic criteria and the reference population. More than 80 different mutations have been identified in several hundred patients. In Italy, SLOS appears to be a rare condition, probably because of underdiagnosis. METHOD: We analyzed by direct sequencing the 7-dehydrocholesterol reductase gene (DHCR7) in a Sicilian patient with Smith-Lemli-Opitz syndrome and his parents in order to characterize the molecular defect. RESULTS: The molecular analysis of the coding exons and the intron-exon boundaries of the DHCR7 gene demonstrated the presence of two missense mutations: a novel mutation (I251N) and a known mutation (E288K) responsible in a compound heterozygous state for a severe form of SLOS. CONCLUSION: The present study describes a Sicilian patient, a carrier of a novel mutation of the DHCR7 gene (I251N), which is responsible in a compound heterozygous state for a severe form of SLOS.

Interleukin-2 plus ribavirin versus interferon-alpha-2b plus ribavirin in patients with chronic hepatitis C who did not respond to previous interferon-alpha-2b treatment.

BACKGROUND: Interferon (IFN)-alpha-2b therapy has been shown to improve clinical conditions of patients with chronic hepatitis C. Several studies showed that the addition of ribavirin to IFNalpha-2b greatly improved the biochemical as well as the virologic and histological response rate in patients with chronic hepatitis C. The aim of this study was to evaluate biochemical, virologic, and histological responses as well as adherence to a treatment employing ribavirin plus low doses of recombinant interleukin (IL-2) or IFNalpha-2b in subjects with chronic active hepatitis C, which relapsed or did not respond to previous treatment with interferon alone. PATIENTS AND METHODS: We evaluated all 75 consecutive adult patients with chronic hepatitis C admitted to our department, who were previously treated with one course of recombinant or lymphoblastoid IFNalpha-2b (3 million to 6 million IU three times a week for at least 4 months), and either relapsed or did not respond to this treatment. Sixty patients met the inclusion criteria for enrollment in our study. Randomization was performed on the basis of a computer-generated list. The treatment schedule was based on subcutaneous administration of recombinant IFNalpha-2b (Intron A) at a dosage of 3 million IU every day, or IL-2 (aldesleukin) at a dose of 1 million IU every day, with oral ribavirin administered 400 mg twice daily (morning and night) [for patients weighing <75 kg] or 500 mg twice daily (for those weighing > or = 75 kg). The planned treatment period was 6 months. RESULTS: Both IFN and IL-2 treatment groups achieved a significant biochemical response with respect to baseline values at the end of the treatment (p < 0.0001 for both) and at the end of the follow up (p < 0.001 for both). The differences between the two groups at the end of treatment and at the end of the follow up were significant (p < 0.04 and p < 0.003 respectively) in favor of IL-2-treatment. The virologic response rate for IL-2-treated patients was significantly higher than for IFN-treated patients at months 3 (p < 0.05) and 6 (p < 0.05) of the treatment. Both groups showed significant improvement in histological activity index with respect to baseline values, but the difference between the groups was not significant. No withdrawals have been registered. CONCLUSION: The combination of IL-2 and ribavirin seems to increase the probability of a sustained biochemical and virologic response in patients with chronic hepatitis C that is unresponsive to IFN. Our study showed that IL-2 plus ribavirin may provide a clinically important option that appears to be well tolerated and effective in patients with chronic hepatitis C virus infection.

Pattern of gastric emptying in functional dyspepsia. An ultrasonographic study.

We assessed the ultrasonographic pattern of gastric emptying in patients with functional dyspepsia, evaluating its relationship with symptoms. Twenty dyspeptic patients, with slight (group A) and severe (group B) symptoms, and 10 controls (group C) underwent ultrasonographic study of gastric emptying by measuring postprandial variations of the antral area at regular intervals. The time at which the antral area returned to the basal value was assumed to be the final emptying time. The final emptying time was significantly longer in both group A (294 +/- 42 min) and group B (340 +/- 36 min) compared to controls (244 +/- 21 min), but no significant difference was observed between them. A significantly (P < 0.05) greater dilation of the antral area was found at 50 min in group B compared to group A patients. A different pattern of antral motor function rather than a delay of gastric emptying correlates with the severity of symtoms in dyspeptic patients.

Intravenous immunoglobulin plus interferon-alpha in autoimmune hepatitis C.

BACKGROUND: Hepatitis C virus (HCV) may be associated with a variety of autoimmune phenomena causing a therapeutic dilemma for treatment with interferon-alpha (IFNalpha), which stimulates autoimmune symptoms, or with corticosteroids, which may lead to an increasing of viral load. To evaluate the possible role of intravenous immunoglobulins (IVIg) in the response of patients treated with IFNalpha, we administered IVIg plus IFNalpha and compared the results with a group of patients treated with IFNalpha alone. METHODS: Forty-two patients affected by chronic hepatitis C with probable autoimmune disease were eligible for this open-label, randomised study. All patients tested positively for anti-nuclear antibodies, anti-smooth muscle antibodies, anti-liver/kidney microsomal antibodies and anti-mitochondrial antibodies. Patients were randomly assigned to one of two groups: group A received IVIg at a dosage of 400 mg/kg each day for 5 days, and then 3 MUI of leucocyte IFNalpha three times a week, while group B received physiological solution followed by the administration of leucocyte IFNalpha three times a week at the same dosage for 6 months. Complete biochemical response was defined as a sustained normalisation of alanine aminotransferase levels, and complete virological response was defined as complete clearance of virus throughout the entire 6-month follow-up period. Immunological response was measured in terms of Autoimmune Hepatitis (AIH) score, while histological response was based on a reduction in histological activity index (HAI) score. RESULTS: Compared with patients receiving IFNalpha alone, a higher percentage of patients who received IFNalpha plus IVIg showed complete virological and histological responses (p = 0.04). More patients in the combination therapy group achieved biochemical and immunological responses, although the differences between the groups were not statistically significant at all time points. CONCLUSIONS: Exogenously added Ig might modulate the immune network at various points. We propose that the immunomodulating action of IVIg acts synergistically with IFNalpha, achieving a better response to IFN treatment in patients with chronic HCV associated with autoimmunity. Data obtained from this preliminary study indicate a positive prospective for the clinical use of gamma globulins in patients with a high probability of autoimmune disorders associated with HCV infection.

Gallbladder and gastric emptying: relationship to cholecystokininemia in diabetics.

Background: Impaired gastrointestinal and gallbladder motility, as a complication of long-lasting diabetes mellitus, has been ascribed to the possible development of autonomic neuropathy, although the intervention of hormonal factors may not completely be excluded. In this regard, cholecystokinin (CCK), a gut hormone known to regulate pancreatic exocrine secretion, gallbladder contraction, and bowel motility in response to a meal, is impaired in patients with diabetes mellitus. This prompted us to evaluate the relationship between the plasma levels of CCK and gallbladder and gastric emptying in neuropathy-free diabetic patients treated with insulin (group A) or with oral hypoglycemic agents (group B) under basal conditions and in response to a standard test meal. Methods: Plasma CCK was measured by radioimmunoassay. Gastric and gallbladder emptying were evaluated ultrasonographically. Results: Plasma CCK levels were significantly lower in both groups of diabetics than in healthy controls during a fast and in response to a standard meal. However, meal ingestion was able to evoke a pattern of CCK response in both groups of diabetic patients similar to that seen in controls. Fasting gallbladder volume was higher in patients with diabetes than in controls, whereas the percentage of emptying was lower in patients of both groups. Gastric final emptying time was significantly longer in both groups of diabetics than in controls. Conclusion: This study shows that patients with diabetes have lower plasma levels of CCK, which may explain their relatively hypotonic gallbladder and reduced gastric motility.