Ultrasound diagnosis of Clostridium difficile-associated diarrhea.

Clostridium difficile colitis is diagnosed using an immunoassay or polymerase chain reaction (PCR) assay for toxins A/B. Since ultrasound is frequently used as a screening test for hospitalized patients suffering from different abdominal morbidities, we searched for sonographic indicators of C. difficile infection (CDI). In a prospective and blinded case-control study, abdominal ultrasound was performed on hospitalized patients for whom stool samples were sent for C. difficile toxin immunoassay. All patients with positive toxin were included as the case group and patients with negative toxin comprised the control group. Sonographic parameters of both groups were compared. Demographic variables of the 67 patients in the toxin-positive group were similar to those of the 71 patients in the toxin-negative group. The sonographic parameters which were found to be associated with CDI included colonic wall thickening, appearing in 61 (91%) patients of the toxin-positive group versus 15 (21%) patients of the toxin-negative group (p < 0.001), and also internal ring (24 versus 0%, p < 0.001), external ring (15 versus 0%, p < 0.001), ascites (24 versus 10%, p < 0.001), and diminution of large bowel content (16 versus 1%, p < 0.001). Bowel wall thickening had high positive and negative predictive values (0.80 and 0.90, respectively), while the other features had only high positive predictive values (0.7-1.0). Abdominal ultrasound may contribute to the diagnosis of C. difficile colitis in patients developing hospital-acquired diarrhea.

Low-dose enzyme replacement therapy for Gaucher's disease: effects of age, sex, genotype, and clinical features on response to treatment.

Although alglucerase therapy has become the treatment of choice for symptomatic patients with Gaucher's disease, the low-dose/high-frequency regimen introduced as a means to reduce the high cost of treatment has raised major controversy. We evaluated the efficacy and safety of low-dose alglucerase in 29 patients with Gaucher's disease who completed 6 to 28 months of therapy. All received intravenous alglucerase at a monthly dose of 30 units/kg, given usually in equal doses 3 times a week. All patients responded well to treatment. The hematological improvement and the reduction in organomegaly were satisfactory. No correlation was found between age, sex, genotype, previous splenectomy, or severity score index and the response to treatment. Patients with a greater degree of hepatomegaly tended to have a more pronounced decrease in liver size, although this reduction did not reach statistical significance. We confirmed that a low-dose/high-frequency regimen of alglucerase was as effective as a high-dose/low-frequency protocol in the treatment of Gaucher's disease, even in the severely ill. Whenever cost is an issue, we recommend using this low-dose regimen.

Low-dose low-frequency imiglucerase as a starting regimen of enzyme replacement therapy for patients with type I Gaucher disease.

The issue of the interplay of optimal dosage and frequency regimens for enzyme replacement therapy in type I Gaucher disease has been a source of controversy during the 7 years since the introduction of the placenta-derived enzymatic preparation in 1991. We present the results of treatment with the human recombinant form of the enzyme in 28 type I Gaucher patients, who have been treated for 6 to 24 months. As long as cost is an important factor in the management of patients with Gaucher disease, low-dose low-frequency imiglucerase promises satisfactory clinical improvement without compromising quality of life.

Lung involvement and enzyme replacement therapy in Gaucher's disease.

Symptomatic lung involvement in Gaucher's disease is relatively rare, being restricted to patients with other severe manifestations. We describe our experience in eight of 411 patients in our referral clinic, who presented with prominent pulmonary signs or symptoms. There were four adults and four children; all have been successfully treated with enzyme replacement therapy. Routine means of monitoring pulmonary status including clinical assessment, chest X-ray, pulmonary function tests, and high-resolution CT (HRCT) were used. Enzyme treatment resulted in decreased hepatosplenomegaly, improved haematological parameters, and increased well-being; There was decreased clubbing and decreased dyspnoea in some of the patients, although on radiology, lung pathology had not normalized. All four children showed improved respiratory compliance, with significant improvement of the radiological findings in one and unchanged disease in the others. Two adults showed improvement in oxygen saturation but worsening of pulmonary hypertension. On chest X-ray, both had increased interstitial markings; one had gradual progression of pulmonary artery accentuation and fine interstitial stable pattern on HRCT. The other two adults had no change in lung function or on chest X-ray, but on HRCT there was apparent improvement in one patient. There is great heterogeneity in presentation and response to enzyme therapy in patients with Gaucher's disease and symptomatic lung involvement. Clinically, some benefited significantly from enzyme therapy, but in contrast to the dramatic reduction in organomegaly, there was no normalization in pulmonary function or lung architecture.

Asymptomatic Gaucher disease implications for large-scale screening.

Gaucher disease, the most prevalent genetic disorder among Ashkenazi Jews, is characterized by significant phenotypic heterogeneity. Because seven mutations account for more than 96% of the disease alleles in this population, large-scale screening is feasible, and genotyping is commercially available. To date, only 400 Gaucher patients have been diagnosed in Israel, although 2,500 patients are predicted by gene frequency; hence, there is the probability that those uncovered by population screening will prove to be very mild or asymptomatic since these patients have generally escaped medical attention until now. We studied objective and subjective aspects in 68 asymptomatic/very mild patients, followed for a mean of 2.6 years, to assess the implications of identifying many more such patients if large-scale screening were to be implemented. We found there were no medically significant changes in disease severity during follow-up. The patients' subjective reports of their general health status were similar to those of normal subjects, and there were no significant changes in quality of life during follow-up. Our findings suggest that asymptomatic/mild Gaucher patients do not require frequent monitoring; there is no justification for "prophylactic" enzyme therapy in this group, and, hence, no rationale for large-scale screening in the Ashkenazi population. Furthermore, one needs to be concerned with the adverse effects of labeling large numbers of asymptomatic individuals as affected because of the potential for stigmatization and discrimination.

Ultrasound vs CT for the detection of ureteric stones in patients with renal colic.

The aim of our study was to compare the accuracy of non-contrast spiral CT with ultrasound (US) for the diagnosis of ureteral calculi in the evaluation of patients with acute flank pain. 62 consecutive patients with flank pain were examined with both CT and US over a period of 9 months. All patients were prospectively defined as either positive or negative for ureterolithiasis, based on follow-up evaluation. 43 of the 62 patients were confirmed as having ureteral calculi based on stone recovery or urological interventions. US showed 93% sensitivity and 95% specificity in the diagnosis of ureterolithiasis; CT showed 91% and 95%, respectively. Pathology unrelated to urinary stone disease was demonstrated in six patients. Although both modalities were excellent for detecting ureteral stones, consideration of cost and radiation lead us to suggest that US be employed first and CT be reserved for when US is unavailable or non-diagnostic.

Echinococcal ovarian cyst. A case report.

BACKGROUND: Echinococcal disease, although known to occur in most organs and body areas, is extremely rare in the female reproductive system. A literature search revealed only three anecdotal non-English language case reports of ovarian echinococcosis. CASE: A 20-year-old woman presented with epigastric pain. Abdominal ultrasonography and computed tomography showed three multicystic masses, one intrahepatic, one intraperitoneal and the third situated in the left ovary. Serologic examination confirmed the diagnosis of echinococcal disease. Marked regression of all the cysts occurred following a short course of albendazole. CONCLUSION: Echinococcal cysts should be included in the differential diagnosis of multicystic ovarian lesions if the patient has cysts elsewhere and is from an endemic area.

Primary epiploic appendagitis: clinical and radiological manifestations.

BACKGROUND: Primary epiploic appendagitis is a relatively rare condition in which torsion and inflammation of an epiploic appendix result in localized abdominal pain. This is a non-surgical situation that clinically mimics other conditions requiring surgery such as acute diverticulitis or appendicitis. OBJECTIVE: To investigate the clinical, laboratory and radiological findings of the disease. METHODS: During the years 1995-88 five patients with primary epiploic appendigitis were diagnosed at our institution. The clinical, laboratory and imaging results were summarized and compared to previously reported series. Emphasis was placed on the computed tomography findings, which are the gold standard for diagnosis. RESULTS: All our patients (two males and three females, mean age 47 years) presented with left lower quadrant abdominal pain. CT proved to be the imaging modality of choice in all patients by showing a pericolic fatty mass with an increased attenuation as compared to normal abdominal fat. In all cases the mass was surrounded by a high attenuation rim, and focal stranding of the fat was observed. In no case was there thickening of the adjacent bowel wall. This serves as an important, and previously unreported, clue for diagnosis. CONCLUSION: Primary epiploic appendagitis is a relatively rare condition that may be clinically misdiagnosed, resulting in unnecessary surgical intervention. Judicious interpretation of CT may lead to early diagnosis and ensure proper conservative treatment.

[Fine needle aspiration of thoracic lesions].

Recent radiologic techniques can detect masses as small as 1 cm in diameter. In combination with fine needle aspiration (FNA), quick and reliable diagnosis of thoracic lesions is now possible and the methods are now accepted worldwide. Several studies have shown that FNA is more sensitive than conventional cytology (including sputum smears and bronchoscopic brushes and washes). Although complications and risks are associated with FNA, they are minimal compared to those of thoracotomy. Between 1976-1990, FNA was performed on 107 patients with pulmonary lesions. In 97 of them, the aspirates were positive for malignancy in 76%, in 7% there was a suspicion of malignancy, and 15% were negative. Diagnostic accuracy was similar for lesions 1 cm or 3 cm in diameter.

Masculinizing genitoplasty in intersex patients.

PURPOSE: We reviewed cosmetic and functional outcome of masculinizing genitoplasty (MPG) in intersex patients assigned as a male performed in our service for more than 12 years. MATERIALS AND METHODS: A total of 57 patients underwent MPG in our department during a 20-year period. Of these cases MPG was performed using modern 1-stage surgical techniques from 1991 to 2003 in 39 (68%). Of the 39 children 8 (21%) had 17beta-hydroxysteroid dehydrogenase deficiency, 2 (5%) had 3beta-hydroxysteroid dehydrogenase deficiency, 8 (21%) had 5alpha-reductase deficiency, 2 (5%) had mixed gonadal dysgenesis, 1 (2.6%) was a true hermaphrodite, 1 (2.6%) had Klinefelter's syndrome, 1 (2.6%) had partially androgen insensitivity syndrome and 16 (41%) had idiopathic male pseudohermaphroditism. The presenting disease was severe proximal penoscrotal hypospadias in 30 cases (77%), perineal hypospadias in 9 (23%) and müllerian duct opening in the perineum along with the urethral meatus in 16 (28%). Median patient age at surgery was 1.8 years. MPG was performed with a transverse pedicled preputial island flap as an onlay in 29 cases (74%). The remaining 10 patients (26%) underwent tubularization of the mucosa in the perineal area and end-to-end anastomosis to a tube made from the pedicled prepuce. Scrotal transposition as well as orchiopexy was performed in some patients as an independent operation so as not to jeopardize the perineal and preputial flaps. RESULTS: In 23 (59%) of the 39 children 1 operation achieved satisfactory cosmetic and functional results in terms of good urinary stream and straight phallus during erection. Three (7%) children presented with various degrees of breakdown of the urethroplasty and required a repeat operation. In 5 patients (12.8%) a small urethral fistula developed and closure was performed. CONCLUSIONS: A 1-stage male genitoplasty for male pseudohermaphroditism is accompanied by a reasonable incidence of major complications. It should be performed in early childhood to avoid psychological and social anxiety by the child and parents.

Does prenatal diagnosis influence the morbidity associated with left in situ nonfunctioning or poorly functioning renal moiety after endoscopic puncture of ureterocele?

PURPOSE: We compared long-term morbidity associated with left in situ nonfunctioning or poorly functioning renal moiety of a duplex system in children with prenatal vs postnatal diagnosis of ureterocele who underwent endoscopic puncture. MATERIALS AND METHODS: A total of 48 children underwent primary endoscopic puncture of duplex system ureterocele. Of the cases 35 (73%) were diagnosed prenatally (group 1) and 13 (27%) postnatally (group 2). Median age at time of puncture was 4 months in group 1 and 3.5 years in group 2. A total of 20 patients in group 1 (57%) and 8 in group 2 (62%) presented with intravesical ureterocele, while 15 in group 1 (43%) and 5 in group 2 (38%) had ectopic ureterocele. A total of 20 children in group 1 (57%) and 7 in group 2 (54%) had a nonfunctioning renal moiety, and 15 in group 1 (43%) and 6 in group 2 (46%) had a poorly functioning ureterocele moiety. Vesicoureteral reflux (VUR) was present in 23 children in group 1 (66%) comprising 30 renal refluxing units (RRUs), and in 12 in group 2 (92%) comprising 14 RRUs. Median followup was 9 years (range 1 to 15) for both groups. RESULTS: Preoperative urinary tract infection (UTI) was common in group 2 (92%) vs group 1 (20%). No patient in group 1 had development of UTI after puncture, while 23% of the children in group 2 presented with UTI. Four children (2 from each group) with ectopic ureterocele required secondary puncture resulting in satisfactory drainage. A total of 14 RRUs (47%) showed spontaneous resolution of VUR in group 1 compared to 3 (21%) in group 2. Four RRUs (13%) required endoscopic correction due to high grade VUR in group 1. Two RRUs (17%) were treated with endoscopic correction and 2 (17%) with ureteral reimplantation due to UTI in group 2. Only 1 patient in group 1 underwent nephrectomy due to nonfunctioning kidney, while 2 patients in group 2 required partial nephrectomy due to UTI. CONCLUSIONS: Our data reveal that prenatal diagnosis of duplex system ureterocele is associated with fewer UTIs, and early endoscopic management may decrease UTI and the need for additional surgery. Nonfunctioning or poorly functioning renal moieties left in situ following successful endoscopic decompression of ureterocele are not associated with additional morbidity and do not require partial nephrectomy in the majority of the cases.

Spontaneous intramural hematoma of the esophagus.

Spontaneous intramural hematoma of the esophagus (SIHE) is a rare condition, usually presenting with severe acute chest pain. Vomiting, dysphagia, odynophagia, and hematemesis may appear later. We herein report a case of this disease in a patient treated with low doses of aspirin, and review the literature for possible etiologies for this condition. In addition, we compare the utility of the various diagnostic modalities in this uncommon condition.

Withdrawal of enzyme replacement therapy in Gaucher's disease.

Although enzyme replacement therapy is safe and effective in ameliorating the signs and symptoms of Gaucher's disease, some patients have withdrawn from treatment. The purpose of this study was to evaluate the response to withdrawal and to discuss the implications for patients currently on unaltered therapy regimens since the advent of treatment. Fifteen patients, who had been treated with enzyme replacement for 5-56 months and then withdrew for 8-47 months, were assessed for changes in haematological parameters and in liver and spleen index volume. Despite non-uniformity of duration of on and off periods, degree of organomegaly, anaemia and thrombocytopenia, most patients did not revert to respective baseline values in most parameters after withdrawal. None of the patients suffered exacerbation of bone involvement or had new or aggravated pulmonary hypertension. Adult patients with stable Gaucher's disease may be withdrawn from therapy for circumscribed periods without forfeiting most gains accrued during enzyme therapy. Therefore, stopping and restarting may be considered in some patients. Alternatively, maintenance at reduced dosage and/or frequency may be appropriate in some adult patients who are stable or non-responsive after the first years of enzyme therapy. This caveat does not apply to children.

Postpartum ovarian vein thrombophlebitis: sonographic diagnosis.

BACKGROUND: We describe our experience with sonographic diagnosis of ovarian vein thrombosis, an uncommon but dangerous postpartum complication. METHODS: We retrospectively reviewed the medical records of seven patients in our institution who developed postpartum ovarian vein thrombophlebitis within the past 5 years. RESULTS: In all cases the diagnosis was made by ultrasound, which showed tubular hypoechoic masses lateral to the great abdominal vessels. The postpartum ovarian vein thrombophlebitis was on the right side in six cases and on the left side in one. In five cases, it protruded into the inferior vena cava. The first three cases were referred to computed tomography after the sonographic diagnosis. In the last four cases, the diagnosis relied solely on sonography and no further evaluation was necessary. CONCLUSION: Sonographic examination can be diagnostic for ovarian vein thrombosis if performed very carefully in symptomatic postpartum patients.

Torsion of the fundus of gallbladder demonstrated on ultrasound and treated with ERCP.

A rare case of torsion of the gallbladder fundus, which was diagnosed by ultrasound and endoscopic retrograde cholangiopancreatography (ERCP) and released during ERCP, is presented. The case illustrates the sonographic and ERCP findings of this rare condition and suggests using ERCP as a therapeutic tool.