PER2 C111G polymorphism, cognitive reserve and cognition in subjective cognitive decline and mild cognitive impairment: a 10-year follow-up study.

BACKGROUND AND PURPOSE: CLOCK and PER2 genes have been implicated in sleep-wake cycle alterations and neurodegenerative diseases. Our aim was to evaluate the effect of CLOCK T3111C and PER2 C111G on cognitive functioning in subjective cognitive decline (SCD) patients and mild cognitive impairment (MCI) patients at the baseline of a longitudinal study, and the effect of these two polymorphisms on the progression to Alzheimer's disease (AD) of the two groups. METHODS: Sixty-eight subjects (41 SCD and 27 MCI) who underwent clinical evaluation, neuropsychological assessment, CLOCK and PER2 genotyping at baseline and neuropsychological follow-up every 2 years for a mean time of 10 years were included. Subjects who developed AD (SCD-c and MCI-c) and non-converters (SCD-nc, MCI-nc) were considered. RESULTS: CLOCK T3111C was detected in 47% of cases (21 SCD, 11 MCI) and PER2 C111G in 19% of cases (eight SCD and five MCI). PER2 G carriers presented lower premorbid intelligence score (P = 0.049), fewer years of education (P = 0.007) and a lower frequency of family history of AD (P = 0.04) than G non-carriers. MCI PER2 G carriers had worse performance in tests assessing memory, executive function, language and visuospatial abilities at baseline. During follow-up, two SCD and 15 MCI subjects progressed to AD: both of the SCD-c subjects presented the PER2 G allele, while none of the SCD PER2 G non-carriers converted to AD (P = 0.003). CONCLUSION: PER2 seems to have a role in cognitive reserve and cognition in SCD and MCI patients. Nevertheless, further studies are needed to assess the role of PER2 C111G on the risk of progression to AD.

Assessing the effectiveness of subjective cognitive decline plus criteria in predicting the progression to Alzheimer's disease: an 11-year follow-up study.

BACKGROUND AND PURPOSE: Subjective cognitive decline (SCD) is a self-experienced decline in cognitive capacity with normal performance on standardized cognitive tests and has been shown to increase the risk of Alzheimer's disease (AD). SCD could also be related to other conditions such as normal aging, psychiatric, neurological or medical disorders. The SCD Initiative proposed a set of features (SCD-plus) that increase the likelihood of preclinical AD in individuals with SCD. Our aim was to assess the effect of these features on the risk of conversion from SCD to AD. METHODS: In total 150 SCD subjects who underwent extensive neuropsychological investigation, assessment of cognitive complaints and apolipoprotein E (ApoE) genotyping at baseline and clinical-neuropsychological follow-up for a mean time of 11 years were included. RESULTS: During the follow-up, 20 subjects developed AD. Considering SCD-plus features, age at onset ≥60 years and ApoE ε4 significantly increased the risk of conversion from SCD to AD. When our sample was stratified into three groups (no risk factor, one risk factor, two risk factors), the proportion of conversion was statistically significantly different between the three groups. CONCLUSIONS: Our model allows the risk of AD to be stratified in patients experiencing SCD according to age at onset and ApoE genotype.

Impact of motivational interviewing on engagement in a parent-exclusive paediatric obesity intervention: randomized controlled trial of NOURISH+MI.

BACKGROUND: Attrition and treatment adherence are notorious challenges in paediatric obesity interventions. OBJECTIVE: To evaluate if brief, pretreatment motivational interviewing (MI) can improve retention (at baseline, post-assessment and follow-up assessment) and adherence (i.e. attendance) in a parent-exclusive paediatric obesity intervention. METHODS: MI was implemented with parents as an adjunct to a larger randomized controlled trial of Nourishing Our Understanding of Role-modeling to Improve Support and Health (NOURISH+ ), a parent intervention for children with overweight ages 5-11 years. Parents (N = 112) were randomized to receive two MI sessions (one telephone and one in person) or reminder calls. RESULTS: Parents (91% women; 52% African American) who completed one telephone MI session were more likely to attend baseline (74%) compared with parents who received reminder calls only (53%, p < .001). After a second MI session, there were no group differences in treatment initiation (p > .05). Treatment attendance, post or 4-month follow-up assessment completion did not differ between conditions (p > .05). CONCLUSION: One MI session implemented prior to treatment can improve baseline attendance; a second MI session did not enhance these effects. A single-session telephone-based MI pretreatment might be a cost and time-effective strategy to enhance recruitment efforts. Further strategies to address retention and treatment attendance are needed.

Impact of motivational interviewing on outcomes of an adolescent obesity treatment: results from the MI Values randomized controlled pilot trial.

The aim of this study is to examine outcomes from MI Values, a motivational interviewing (MI) intervention implemented adjunctive to obesity treatment. Adolescents (n = 99; 73% African American; 74% female; mean body mass index [BMI] percentile = 98.9 ± 1.2) were randomized to receive two MI sessions or education control. All adolescents participated in structured behavioural weight management treatment. Baseline, 3- and 6-month assessments of anthropometrics, dietary intake and physical activity were obtained. Both groups had significant reductions in BMI z-scores and energy intake and increased physical activity at 3 and 6 months (P < 0.05). MI participants reported greater reductions in 3-month energy intake compared with controls. Participation in MI is associated with reduction in energy intake, consistent with better adherence to dietitian visits previously reported from MI Values. MI might be an effective adjunct to adolescent obesity treatment; future research is needed to determine if motivational interviewing can enhance BMI outcomes, via greater adherence to behavioural intervention.

mRECIST criteria to assess recurrent thyroid carcinoma treatment response after radiofrequency ablation: a prospective study.

PURPOSE: Surgical removal is recommended for recurrent thyroid carcinomas (RTCs) unable to uptake radioiodine and/or not responsive to chemotherapy. However, repeated neck dissection is difficult for surgeons. Thus, radiofrequency ablation (RFA) was proposed for RTCs. The aim of this prospective study is to assess RTC treatment response after RFA, according to well-established criteria. METHODS: Sixteen lesions in 13 patients were treated by RFA. All patients refused/were excluded from repeated surgery or other conventional therapy. CT and US examinations were performed before RFA to evaluate lesion volume and vascularization. All RFA procedures were performed under US-guidance by an 18-gauge, electrode. Treatment response was evaluated by CT, according to RECIST 1.1 and to mRECIST guidelines; CT examinations were performed during follow-up (6-18 months); the volume of residual vital tumour tissue and the percentage of necrotic tissue were estimated by contrast enhanced CT. RESULTS: RFA was well tolerated by all patients; in two cases laryngeal nerve paralysis was observed. Mean pre-treatment volume was 4.18 ± 3.53 ml. Vital tumour tissue and percentage of necrosis at 6, 12 and 18 months were 0.18 ± 0.25, 0.11 ± 0.13, 0.29 ± 0.40 ml and 91.9 ± 11.1, 90.4 ± 13.3, 80.8 ± 23.1%. According to RECIST 1.1, target lesion response was classified as complete response (CR) in one case, partial response (PR) in 11/16, stable disease in 4/16 cases. According to mRECIST, 11/16 cases were classified as CR and the remaining 5 as PR. CONCLUSION: RFA is a safe procedure to treat the viable tumour tissue and to reduce the RTC volume; as to the criteria to assess treatment response, mRECIST appears to be more accurate.

Motivational interviewing targeting diet and physical activity improves adherence to paediatric obesity treatment: results from the MI†Values randomized controlled trial.

BACKGROUND: Adherence is a challenge in obesity treatment. Motivational interviewing (MI) may promote patient adherence. MI Values is a randomized controlled trial of MI implemented as an adjunct to an adolescent obesity treatment [Teaching Encouragement Exercise Nutrition Support (T.E.E.N.S.)]. OBJECTIVE: Assess effects of MI Values on T.E.E.N.S. attrition and adherence. METHODS: Participants were randomized to MI (n = 58) or control (n = 41). At weeks 1 and 10, MI participants had brief MI sessions; controls viewed health education videos. All participants continued with T.E.E.N.S. (biweekly dietitian and behavioural support visits; 3 times per week supervised physical activity). Assessments were repeated at baseline, 3 and 6 months. T-tests and chi-square analyses examined T.E.E.N.S. attrition and adherence by group. RESULTS: Adolescents (N = 99) were primarily African-American (73%) females (74%); age = 13.8 ± 1.8 years, body mass index percentile = 98.0 ± 1.2. Compared with controls, MI participants had greater 3-month adherence overall (89.2% vs. 81.0%, P = 0.040), and to dietitian (91.3% vs. 84.0%; P = 0.046) and behavioural support (92.9% vs. 85.2%; P = 0.041) visits, and greater 6-month adherence overall (84.4% vs. 76.2%, P = 0.026) and to behavioural support visits (87.5% vs. 78.8%, P = 0.011). CONCLUSIONS: MI enhanced adherence to this obesity intervention. MI Values is the first study to examine the impact of MI on treatment adherence among obese, primarily African-American adolescents.

Hepatic left lobe volume is a sensitive index of metabolic improvement in obese women after gastric banding.

BACKGROUND: Nonalcoholic fatty liver disease is a common finding in obese subjects. Increasing evidence has been provided suggesting that it represents the hepatic component of the metabolic syndrome. OBJECTIVE: Aim of this longitudinal study was to evaluate the relationships between several anthropometric measures, including the hepatic left lobe volume (HLLV), and various indicators of the metabolic syndrome in a cohort of severely obese women before and after laparoscopic adjustable gastric banding (LAGB). STUDY DESIGN AND RESULTS: Seventy-five obese women (mean age 45 ± 10 years and body mass index (BMI) 42.5 ± 4.8 kg m(-2)) underwent LAGB and completed an average (± s.d.) post-surgical follow-up of 24 ± 6 months. Determination of HLLV, subcutaneous and intra-abdominal fat (IAF) was based on ultrasound. The principal component statistical analysis applied to pre-operative measurements, highlighted HLLV as a parameter that clustered with serum insulin, IAF, serum glucose and uric acid, along with triglycerides (TGs), alkaline phosphatase and high-density lipoprotein cholesterol. After LAGB, the average reduction of BMI was 23%, 12% for subcutaneous fat (SCF), 42% for HLLV and 40% for visceral fat. Among body weight, BMI, SCF, IAF and HLLV, reduction of the latter was an independent predictor of reduction of serum transaminases and γ-Glutamyltransferase, glucose, insulin and TGs. CONCLUSIONS: In severely obese women: (i) HLLV is a sensitive indicator of ectopic fat deposition, clustering with parameters defining the metabolic syndrome; (ii) weight loss achieved by LAGB is associated with a reduction of liver volume as estimated by HLLV; (iii) among various anthropometric parameters measured, reduction of HLLV that follows LAGB represents the best single predictor of improvement of various cardiometabolic risk factors.

An exploration of body dissatisfaction and perceptions of Black and White girls enrolled in an intervention for overweight children.

Silhouette measures are one approach to assessing body dissatisfaction in children, although little is known about their use among racially diverse, overweight girls seeking weight-loss treatment. This study assessed racial differences in body dissatisfaction and body size perceptions of 58 girls (ages 6-11, 66% Black, 34% White) participating in a randomized trial for pediatric overweight. Body dissatisfaction did not differ between races; 99% of girls reported an ideal figure smaller than their current one. Black girls selected a larger silhouette to represent their ideal body size, and most girls in both racial groups underestimated their actual size. Outcomes strengthen the argument that, despite an overall preference for a larger body size, obesity might mitigate cultural factors that protect Black girls from body dissatisfaction. Additional research is needed to enhance understanding of children's body size perceptions and dissatisfaction to inform assessment and treatment of pediatric obesity and associated disordered eating symptoms.

Binge eating disorder: a symptom-level investigation of genetic and environmental influences on liability.

BACKGROUND: Recent behavioral genetic studies have emphasized the importance of investigating eating disorders at the level of individual symptoms, rather than as overall diagnoses. We examined the heritability of binge eating disorder (BED) using an item-factor analytic approach, which estimates contributions of additive genetic (A), common environmental (C), and unique environmental (E) influences on liability to BED as well as individual symptoms. METHOD: Participants were 614 monozygotic and 410 dizygotic same-sex female twins from the Mid-Atlantic Twin Registry who completed a self-report measure of BED symptoms based upon DSM-IV criteria. Genetic and environmental contributions to BED liability were assessed at the diagnostic and symptom levels, using an item-factor approach. RESULTS: Liability to BED was moderately heritable; 45% of the variance was due to A, with smaller proportions due to C (13%), and E (42%). Additive genetic effects accounted for 29-43% of the variance in individual items, while only 8-14% was due to C. CONCLUSIONS: Results highlight the relevance of examining eating disorders at the symptom level, rather than focusing on aggregate diagnoses.

A twin study of specific bulimia nervosa symptoms.

BACKGROUND: Twin studies have suggested that additive genetic factors significantly contribute to liability to bulimia nervosa (BN). However, the diagnostic criteria for BN remain controversial. In this study, an item-factor model was used to examine the BN diagnostic criteria and the genetic and environmental contributions to BN in a population-based twin sample. The validity of the equal environment assumption (EEA) for BN was also tested. METHOD: Participants were 1024 female twins (MZ n=614, DZ n=410) from the population-based Mid-Atlantic Twin Registry. BN was assessed using symptom-level (self-report) items consistent with DSM-IV and ICD-10 diagnostic criteria. Items assessing BN were included in an item-factor model. The EEA was measured by items assessing similarity of childhood and adolescent environment, which have demonstrated construct validity. Scores on the EEA factor were used to specify the degree to which twins shared environmental experiences in this model. RESULTS: The EEA was not violated for BN. Modeling results indicated that the majority of the variance in BN was due to additive genetic factors. There was substantial variability in additive genetic and environmental contributions to specific BN symptoms. Most notably, vomiting was very strongly influenced by additive genetic factors, while other symptoms were much less heritable, including the influence of weight on self-evaluation. These results highlight the importance of assessing eating disorders at the symptom level. CONCLUSIONS: Refinement of eating disorder phenotypes could ultimately lead to improvements in treatment and targeted prevention, by clarifying sources of variation for specific components of symptomatology.

Assessing the heritability of anorexia nervosa symptoms using a marginal maximal likelihood approach.

BACKGROUND: Assessment of eating disorders at the symptom level can facilitate the refinement of phenotypes. We examined genetic and environmental contributions to liability to anorexia nervosa (AN) symptoms in a population-based twin sample using a genetic common pathway model. METHOD: Participants were from the Norwegian Institute of Public Health Twin Panel (NIPHTP) and included all female monozygotic (MZ; 448 complete pairs and four singletons) and dizygotic (DZ; 263 complete pairs and four singletons) twins who completed the Composite International Diagnostic Interview (CIDI) assessing DSM-IV Axis I and ICD-10 criteria. Responses to items assessing AN symptoms were included in a model fitted using the marginal maximum likelihood (MML) approach. RESULTS: Heritability of the overall AN diagnosis was moderate [a2=0.22, 95% confidence interval (CI) 0.0-0.50] whereas heritabilities of the specific items varied. Heritability estimates for weight loss items were moderate (a2=0.31-0.34) and items assessing weight concern when at a low weight were smaller (0.18-0.29). Additive genetic factors contributed little to the variance of amenorrhea, which was most strongly influenced by unshared environment (a2=0.16, e2=0.71). CONCLUSIONS: AN symptoms are differentially heritable. Specific criteria such as those related to body weight and weight loss history represent more biologically driven potential endophenotypes or liability indices. The results regarding weight concern differ somewhat from those of previous studies, highlighting the importance of assessing genetic and environmental influences on variance of traits within specific subgroups of interest.

Multidetector CT in diagnostic work-up of patients with primary hyperparathyroidism.

PURPOSE: This study was performed to evaluate the accuracy of multidetector computed tomography (MDCT) in detecting parathyroid lesions in patients with primary hyperparathyroidism. MATERIALS AND METHODS: We included 60 patients with primary hyperparathyroidism. Preoperative first-line examinations revealed negative and doubtful ultrasound (US) findings in 34 and 26 cases, respectively, and negative, doubtful and positive scintigraphic findings in 19, 20 and 21 cases, respectively. CT findings were compared with the surgical results. RESULTS: CT examination was positive in 35 cases, negative in 15 cases and doubtful in ten cases. Forty out of 60 patients underwent surgery, and 39 lesions (37 adenomas, two primary hyperplasias) were identified. Surgery was negative in two cases. In eight cases, lesions had ectopic location. Surgery confirmed the CT findings in 23 positive cases. In 8/10 doubtful cases, surgery confirmed the location of the lesion in five cases, identified the ectopic location of lesions in two cases, and was negative in one case. In 9/15 cases with negative CT findings, surgery identified the lesion in eight cases. Sensitivity, specificity and diagnostic accuracy values were 78%, 25% and 73%, respectively. CONCLUSIONS: MDCT is an accurate second-line diagnostic technique in the detection of parathyroid lesions, allowing exploration of the entire cervical and mediastinal regions.

Ultrasonographic evaluation of liver volume and the metabolic syndrome in obese women.

Non-alcoholic fatty liver disease is a common finding in obese subjects, and increasing evidence has been provided suggesting that it represents the hepatic component of the metabolic syndrome. The aim of this study was to evaluate whether the extent of liver enlargement is related to the severity of the metabolic syndrome in obese women. The relationship between ultrasound- measured hepatic left lobe volume (HLLV) and various features of the metabolic syndrome was evaluated in 85 obese women. The mean+/-SD value of HLLV in obese women was 431+/-214 ml (range 46-1019 ml) while it was 187+/-31 ml (range 143-258 ml) in lean subjects. In a multiple logistic regression analysis, ultrasound-measured intra-abdominal fat was the only anthropometric measure independently associated with HLLV. A strong positive association was found between HLLV and serum liver enzymes, triglycerides, glucose, insulin, uric acid, C reactive protein, systolic and diastolic blood pressure, while a negative correlation was observed between HLLV and HDL cholesterol. The values of HLLV corresponding to the cut-off values of various risk factors for the diagnosis of the metabolic syndrome were calculated, yielding a mean value of 465 ml. In conclusion, ultrasound measurement of HLLV represents a simple, reliable and low-cost tool for the evaluation of liver involvement in the metabolic syndrome. The strong association between liver enlargement and various cardiovascular risk factors associated with insulin resistance supports the role of liver steatosis as an important link among the many facets of the metabolic syndrome in human obesity.

Overexpression of Ets-1 in human hematopoietic progenitor cells blocks erythroid and promotes megakaryocytic differentiation.

Ets-1 is a widely expressed transcription factor implicated in development, tumorigenesis and hematopoiesis. We analyzed Ets-1 gene expression during human erythroid and megakaryocytic (MK) differentiation in unilineage cultures of CD34+ progenitor cells. During erythroid maturation, Ets-1 is downmodulated and exported from the nucleus into the cytoplasm through an active mechanism mediated by a leucine-rich nuclear export signal. In contrast, during megakaryocytopoiesis Ets-1 increases and remains localized in the nucleus up to terminal maturation. Overexpression of Ets-1 in erythroid cells blocks maturation at the polychromatophilic stage, increases GATA-2 and decreases both GATA-1 and erythropoietin receptor expression. Conversely, Ets-1 overexpressing megakaryocytes are characterized by enhanced differentiation and maturation, coupled with upmodulation of GATA-2 and megakaryocyte-specific genes. We show that Ets-1 binds to and activates the GATA-2 promoter, in vitro and in vivo, indicating that one of the pathways through which Ets-1 blocks erythroid and promotes MK differentiation is via upmodulation of GATA-2 expression.

Multidetector CT of the small bowel: evaluation after oral hyperhydration with isotonic solution.

PURPOSE: The aim of our study was to assess the diagnostic capabilities of multidetector CT in the evaluation of the small bowel in different pathological conditions, with the use of oral hyperhydration with isotonic solution. MATERIALS AND METHODS: The study retrospectively evaluated 106 patients who underwent multidetector CT of the small bowel. Four groups were considered on the basis of the clinical findings: group A (48 cases), with suspected or certain chronic inflammatory disease of the small bowel; group B (16 cases), with suspected neoplastic lesion of the small bowel; group C (17 cases), patients affected by malabsorption; group D (25 cases), others: 13 cases with non-specific abdominal pain, 4 cases with occult bleeding, 8 cases affected by fever of unknown origin. Thirteen patients had previously undergone surgical intestinal resection. In all cases the CT examination was performed after the oral administration of 2000 mL polyethylene glycol electrolyte balanced solution; before the scan, N-butyl scopolamine or glucagon were administered intravenously to obtain rapid inhibition of bowel peristalsis. All multidetector CT scans were acquired at baseline and 50 seconds after the I.V. administration of 110-130 ml high-concentration non-ionic iodinated contrast medium. The images were subsequently processed on a dedicated workstation (Advantage Windows 4.0, GE Medical Systems) to obtain multiplanar reconstruction (MPR). We considered the following CT findings: fold distribution, wall thickening and stratification and contrast enhancement, extraparietal involvement and abnormalities of the abdominal organs. The CT diagnoses were compared with the clinical and laboratory findings (86 cases) and with the results of barium follow-through (55 cases), ileo-colonoscopy (45 cases) or surgery (28 cases). RESULTS: CT examination allowed the correct diagnosis in 86/106 cases (89%); 20 patients were not included in the study because of a poor (11 cases) or absent (9 cases) small bowel loop distension. The final diagnoses in the 86 patients were: Crohn's disease of the small bowel (38 cases), Crohn's disease of the duodenum (1 case), granulomatous colitis (3 cases), malabsorption (8 cases), neoplastic lesion (4 cases), post-radiation conglomeration of ileal loops (1 case), intestinal lymphangiectasia (1 case), ulceration of the last ileal loop (1 case). In 29 cases no abnormalities of the small bowel were found. Spiral CT yielded 52 true positive cases, 5 false negative cases, 2 false positive cases, and 27 true negative RESULTS: The sensitivity of the technique was 91%, specificity 93% and diagnostic accuracy 92%. CONCLUSIONS: Multidetector CT of the small bowel performed after oral hyperhydration with isosmotic solution, proved to be an accurate and thorough technique. It can be considered a safe and effective alternative to conventional radiographic studies and to small bowel spiral CT enema in patients that refuse the nasojejunal balloon catheter or the administration of methylcellulose.

Multidetector CT and virtual endoscopy in the evaluation of the esophagus.

In this prospective study, we assessed the diagnostic capabilities of multidetector computed tomography (CT) in various esophageal pathologic conditions. Thirty-three patients underwent a multidetector CT study after esophageal distention by means of effervescent powder administered after induction of pharmacologic esophageal hypotonia. All acquired images were post-processed with two- and three-dimensional software tools. The CT data were compared with the results of conventional radiology (33), endoscopy (28), endoscopy ultrasonography (14), or surgery (14). Follow-up ranged between 4 and 15 months. Esophageal distention in the upper and middle thirds was classified as "good" in 32 of 33 cases (97%); in the lower third, esophageal distention was "good" in 21 of 33 cases (64%). Final diagnoses were leiomyoma (six cases), squamous cell carcinoma (six), adenocarcinoma (four), esophageal infiltration by thyroid cancer (two), benign polyposis (two), chronic esophagitis (five), post-sclerotherapy stenosis (one), no abnormalities (seven). When good distention was achieved, the thickness of unaffected esophageal wall was less than 3 mm (range, 1.5-2.4 mm; mean, 1.9 mm). Pathologic wall thickening was observed in 25 of 33 cases (76%), with values ranging between 3.6 and 36 mm (mean, 9.6 mm). Spiral CT demonstrated 21 true positive cases, and seven true negative cases. There were four false negative cases and one false positive case. Sensitivity was 84%, specificity was 87%, diagnostic accuracy was 85%, positive predictive value was 95%, and negative predictive value was 64%. Evaluation of the esophagus with multidetector CT is a promising technique and easy to use, allowing panoramic exploration, virtual endoluminal visualization, accurate longitudinal and axial evaluations, and simultaneous evaluation of T and N parameters.

Crohn disease of the small bowel: spiral CT evaluation after oral hyperhydration with isotonic solution.

PURPOSE: Our aim was to evaluate the accuracy of spiral CT study of small-bowel Crohn disease with use of oral hyperhydration with isoosmotic solution. METHOD: We prospectively analyzed 33 consecutive patients and 10 control subjects with spiral CT after oral administration of 2,000 ml of polyethylene glycol electrolyte-balanced solution. The CT diagnoses were compared with the results of conventional radiologic oral barium examination (33 cases), ileum colonoscopy (8 cases), and surgery (4 cases). RESULTS: The final diagnoses were Crohn disease (14 cases), no small-bowel disease (16 cases), cancer of ileocecal valve (1 case), carcinosis of mesenteric root (1 case), and intestinal lymphangiectasia (1 case). In the control group, no abnormalities of the small bowel were found. The sensitivity of spiral CT was 85.7%, specificity 100%, positive predictive value 100%, negative predictive value 90%, and diagnostic accuracy 93.9%. CONCLUSION: Our method allowed adequate distension of the small bowel for spiral CT studies, thus resulting in a safe and effective alternative to small-bowel spiral CT enema, which can be used in patients that refuse the nasojejunal balloon catheter.

Contrast-enhanced color Doppler ultrasonography in suspected parathyroid lesions.

PURPOSE: To assess the usefulness of US contrast media in the evaluation of patients with primary hyperparathyroidism, with a nodule showing US features of a primary parathyroid lesion but lacking the color Doppler US appearance of a parathyroid mass. MATERIAL AND METHODS: Thirteen patients (7 female, 6 male; age range 51-79 years) were examined with US before and after administration of a stabilized galactose-based microbubble contrast agent. Ten patients underwent surgery and the final histological examination demonstrated parathyroid adenoma in 9 cases and a mesenchymal benign nodule in 1 case. Three nodules were proved to be of thyroid origin at fine-needle aspiration biopsy. RESULTS AND CONCLUSION: The use of a US contrast agent resulted in a diagnostic gain compared to unenhanced studies in 12/13 cases. Color Doppler findings characteristic of parathyroid lesions were observed in 7/13 cases, of thyroid nodules in 4/13 cases, and nonspecific patterns in 2/13 cases. Contrast-enhanced color Doppler US can be proposed in selected patients in whom unenhanced color Doppler provides uncertain findings. Its ideal application should be the evaluation of cervical lesions without detectable intranodular flow at unenhanced Doppler studies. In these cases, the contrast agent helps in visualizing typical color Doppler signals of the parathyroid lesions ("vascular pole" and "mixed pattern").

Retinal degeneration associated with ectopia lentis.

Two brothers had retinal degeneration, lens subluxation, and myopia since early life. There was no evidence of Marfan syndrome, homocystinuria, or other systemic disease. They had nystagmus, myopia, inferior dislocation of the lens, and posterior subcapsular opacities in both eyes. Fundus examination showed attenuated retinal vessels, macular atrophy with occasional pigment accumulation as clumps, and perivascular sleeves. Electroretinography revealed decreased photopic and scotopic responses. The visual fields were constricted. We believe this to be the first report of retinal degeneration with bilateral lens subluxation in a family. It appears to be inherited in an autosomal recessive fashion.

Endoscopic parathyroidectomy: report of an initial experience.

BACKGROUND: Preoperative localization of parathyroid lesions and intraoperative quick parathyroid hormone (PTH) assay have been proposed to minimize the extent of operation in primary hyperparathyroidism. To this purpose, endoscopic procedures have been introduced recently. METHODS: During a period of 13 months, 39 of 65 consecutive patients with primary hyperparathyroidism were selected for endoscopic parathyroidectomy on the basis of the following criteria: preoperative echographic diagnosis of a single adenoma, absence of nodular goiter, and no prior neck operations. Unilateral neck exploration and excision of the adenoma was performed through a gasless procedure combined with intraoperative PTH measurements. Mean follow-up after the operation was 7 months (range 1 to 13 months). RESULTS: Thirty-nine parathyroid adenomas were removed; the mean diameter was 21 mm (range 5 to 30 mm). The mean operative time was 65 minutes (range 30 to 180 minutes). In all cases PTH concentration decreased significantly. Patients who underwent endoscopic parathyroidectomy had less postoperative pain compared with patients who underwent conventional hemithyroidectomy. At follow-up, serum calcium and PTH levels were normal in all cases. CONCLUSIONS: Endoscopic parathyroidectomy proved to be a feasible surgical procedure that can be performed in an acceptable operative time with an excellent cosmetic result. The gasless approach avoided any emphysema.