Eating disorders

Background Eating disorders (EDs) are an important public health problem in developed countries. Despite the amount of epidemiological studies and causal theories, there is a great disparity of estimates and many questions remain still unclear. The aim of this study was to estimate the prevalence of the population at risk of developing EDs and describe the risk profiles among adolescents and young people. Methods A transversal design using a two-stage cluster sample of secondary education students aged between 12 and 18 years was used. The survey consisted of a socio-demographic questionnaire along with the Eating Attitudes Test (EAT)-40 index and was carried out between May and June 1999. Results Results showed that 7.8% of the secondary school population had a high risk of developing eating disorders (EAT-40 higher than 30). Females presented a higher percentage [12.3%; 95% confidence limits (CL) 10.4–14.3%] than males (3.2%; 95% CL 2.1–4.2%) at the highest risk levels. A decreasing risk gradient was observed with age. Conclusions The estimates show an important difference between the risk in females and in males and suggests that the risk is incremented above all in the last few years of infancy and the first years of adolescence, when these boys and girls are more vulnerable to socio-cultural influences and do not yet have defined image and “behaviour models”.     

Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy

The aim of this study was to evaluate the spectrum of muscle involvement on Magnetic Resonance Imaging (MRI) in patients with collagen VI related disorders. Nineteen patients with genetically confirmed collagen VI related disorders, 10 with Bethlem myopathy and 9 with Ullrich congenital muscular dystrophy (CMD), had muscle MRI of their legs using T1 sequences through calves and thighs. In patients with Bethlem myopathy the vasti muscles appeared to be the most frequently and most strikingly affected thigh muscles, with a rim of abnormal signal at the periphery of each muscle and relative sparing of the central part. Another frequent finding was the presence of a peculiar involvement of the rectus femoris with a central area of abnormal signal within the muscle. Patients with Ullrich CMD had a more diffuse involvement of the thigh muscles with relative sparing of sartorius, gracilis and adductor longus. In 8 of the 9 patients with Ullrich CMD, we also observed the peripheral rim of the vastus lateralis and the central area in the rectus femoris observed in patients with Bethlem myopathy. At calf level the results were more variable but a significant proportion of patients with both Bethlem myopathy (8/10) and Ullrich CMD (6/9) showed a rim of abnormal signal at the periphery of soleus and gastrocnemii. Bethlem myopathy and Ullrich CMD patients have distinct patterns of muscle involvement on MRI with some overlap between the two forms. Our results suggest that muscle MR may be used, as an additional tool, to identify patients with collagen VI related disorders. This information is even more important in the patients with a typical Ullrich CMD clinical phenotype but with normal collagen expression of VI in muscle and/or skin.     

Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures

Limb girdle muscular dystrophy 2A is a common variant secondary to mutations in the calpain 3 gene. A proportion of patients has early and severe contractures, which can cause diagnostic difficulties with other conditions. We report clinical and muscle magnetic resonance imaging findings in seven limb girdle muscular dystrophy 2A patients (four sporadic and three familial) who had prominent and early contractures. All patients showed a striking involvement of the posterior thigh muscles. The involvement of the other thigh muscles was variable and was related to clinical severity. Young patients with minimal functional motor impairment showed a predominant involvement of the adductors and semimembranosus muscles while patients with restricted ambulation had a more diffuse involvement of the posterolateral muscles of the thigh and of the vastus intermedius with relative sparing of the vastus lateralis, sartorius and gracilis. At calf level all patients showed involvement of the soleus muscle and of the medial head of the gastrocnemius with relative sparing of the lateral head. MRI findings were correlated to those found in two patients with the phenotype of limb girdle muscular dystrophy 2A without early contractures and the pattern observed was quite similar. However, the pattern observed in limb girdle muscular dystrophy 2A is different from that reported in other muscle diseases such as Emery-Dreifuss muscular dystrophy and Bethlem myopathy which have a significant clinical overlap with limb girdle muscular dystrophy 2A once early contractures are present. Our results suggest that muscle MRI may help in recognising patients with limb girdle muscular dystrophy 2A even when the clinical presentation overlaps with other conditions, and may therefore, be used as an additional investigation to target the appropriate biochemical and genetic tests.     

Neuroendocrine (HPA axis) and clinical correlates during fluvoxamine and amitriptyline treatment

The effect of amitriptyline on hypothalamic-pituitary-adrenocortical (HPA) axis activity was compared with that of fluvoxamine in 38 patients suffering from DMS-IV major depressive disorder. Basal plasma adrenocorticotropic hormone and cortisol levels were determined in the so-called "observation window" of an hour (08:00-09:00 h), and cortisol levels were determined again at 20:00 h. Clinical and biochemical assessments were performed before therapy (T0), at day 14 (T14), and at day 42 (T42) of the course of antidepressant treatment. At T0, neuroendocrine parameters did not differ in patients from those in controls, except for the ratio between cortisol levels at 20:00 h and the mean level of the "window" (ratio F20/F8), which was significantly higher, suggesting a dysregulation of the circadian pattern of cortisol. Although a decrease in the ratio F20/F8 was already apparent at T14 of both treatments, the repeated measures analysis of variance failed to demonstrate a significant variation with time (T0, T14, and T42) and with treatment (amitriptyline and fluvoxamine) for any hormonal measure. At T42, both treated groups showed a similar level of clinical improvement. Our results did not demonstrate any effect of antidepressant therapy on the cortisol circadian rhythm abnormality.     

X-linked creatine transporter deficiency

Creatine transporter deficiency is an X-linked disorder characterized by mental retardation and language delay. The authors report a patient affected by creatine transport deficiency caused by a novel mutation in the SLC6A8 gene. Impairment in social interaction represents a consistent clinical finding in the few cases described to date and may be a diagnostic clue for creatine transporter deficiency in males affected by mental retardation, seizures, and language impairment.     

Cognitive competence at the onset of West syndrome: correlation with EEG patterns and visual function

The aim of this study was to evaluate cognitive development at the onset of West syndrome (WS) with regard to electroencephalogram (EEG) patterns and visual function. Twenty-five patients (14 males, 11 females) at the onset of spasms (T0) in WS and 2 months later (T1) underwent a full clinical evaluation, including neuroimaging, cognitive assessment, video-EEG, and visual function. Mean age of the patients at spasm onset was 5.9 months (SD 2.5; range 2 to 13mo). Cognitive development, assessed with Griffiths Mental Development Scales (GMDS), was generally impaired at T0 and was significantly related to visual function (p<0.001) at both T0 and T1. In general, there was a specific major impairment in the eye-hand coordination scale of the GMDS which tended to disappear after 2 months in less severe cases. At the onset of spasms, sleep EEG organization seemed to be better related to cognitive abilities than awake hypsarrhythmia. These results support a close link between visual function and cognitive competence in WS and provide additional information to improve the understanding of possible mechanisms underlying cognitive impairment.     

Standard sonography and arthrosonography in the study of rotator cuff tears

PURPOSE: The aim of this study was to evaluate the sensitivity of ultrasonography, integrating standard ultrasound and arthrosonography after injecting a saline solution into the glenohumeral cavity in cases of suspected rotator cuff tears. MATERIALS AND METHODS: We prospectively examined 40 patients awaiting shoulder arthroscopy for suspected or diagnosed tears of the rotator cuff. A radiologist, unaware of the pre-operative diagnosis, performed an ultrasound scan on all the patients before and after the injection of saline solution into the glenohumeral cavity. The parameters considered were presence or absence of a rotator cuff injury; type of injury according to Snyder and its extent along the longitudinal and transverse planes; presence or absence of effusion into the articular cavity; subacromial/subdeltoid bursal distension. All the patients underwent arthroscopy either the same day or the day after the ultrasound examination. RESULTS: Standard sonography showed 26 complete rotator cuff tears (type C according to Snyder), 2 partial tears (type B according to Snyder) and 12 intact rotator cuffs.Arthrosonography detected 31 complete rotator cuff tears (type C according to Snyder), 1 partial tear (type B according to Snyder) and 8 intact rotator cuffs.Arthroscopy identified 32 complete rotator cuff tears (type C according to Snyder), 1 partial tear (type B according to Snyder) and 8 intact rotator cuffs.Analysis of the results shows that, taking arthroscopy as the gold standard, the sensitivity of normal sonography is 81.2%, whereas that of arthrosonography is 96.8% (p < 0.05). CONCLUSIONS: On the basis of the data obtained in this study, standard sonography, integrated with the injection of a saline solution into the glenohumeral cavity, considerably increases the diagnostic sensitivity for rotator cuff tears. The authors suggest that arthrosonography can be used in the event of suspected rotator cuff tears, when MRI is contraindicated.     

An efficient, reproducible and fast preparation of 188Re-anti-CD20 for the treatment of non-Hodgkin's lymphoma

BACKGROUND: Therapies using Y-anti-CD20 or I-anti-CD20 have demonstrated their efficacy in patients with B-cell non-Hodgkin's lymphoma. Re is a radionuclide useful for radioimmunotherapy. AIM: To develop a procedure for efficient labelling of anti-CD20 with Re from lyophilized formulations to achieve high radiochemical yield, high specific activity and preservation of the molecular recognition after a simple kit reconstitution without further purification. METHODS: Re-anti-CD20 was prepared by a direct labelling method using sodium tartrate as a weak competing ligand. Different lyophilized formulations were prepared to optimize tartrate and stannous chloride concentration, pH and reaction time. To evaluate the biological recognition a comparative study of the in-vitro binding of Re-anti-CD20, I-anti-CD20 (positive control) and Re-anti-CEA (negative control) to normal B lymphocytes was performed. Biodistribution studies in normal mice were accomplished to assess the in-vivo Re-anti-CD20 complex stability. RESULTS: Re labelled anti-CD20 was obtained with high radiochemical purities (>97%) and high specific activity (0.5-0.7 GBq . mg) 1-1.5 h after addition of sodium perrhenate solution to a kit containing 4.4 muM anti-CD20, 4 mM anhydrous stannous chloride, and 140 mM dihydrate sodium tartrate at pH 4. The binding of Re-anti-CD20 to cells was in the same range as I-anti-CD20 (>80%) and was significantly different to cell binding of Re-anti-CEA (<10%). No evidence of free Re release was found at 2, 4 and 24 h after Re-anti-CD20 administration in mice. Lyophilized kits showed high stability during the storage at 4 degrees C for 6 months. CONCLUSIONS: Optimal reaction conditions were defined enabling high radiochemical purities of Re-anti-CD20 to be obtained routinely and therefore potentially useful in the treatment of non-Hodgkin's lymphoma.