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Macular Telangiectasia type 2 (MacTel) is an uncommon bilateral retinal disease, in which glial cell and photoreceptor degeneration leads to central vision loss. The causative disease mechanism is largely unknown, and no treatment is currently available. A previous study found variants in genes associated with glycine-serine metabolism (PSPH, PHGDH and CPS1) to be associated with MacTel, and showed low levels of glycine and serine in the serum of MacTel patients. Recently, a causative role of deoxysphingolipids in MacTel disease has been established. However, little is known about possible other metabolic dysregulation. Here we used a global metabolomics platform in a case-control study to comprehensively profile serum from 60 MacTel patients and 58 controls. Analysis of the data, using innovative computational approaches, revealed a detailed, disease-associated metabolic profile with broad changes in multiple metabolic pathways. This included alterations in the levels of several metabolites that are directly or indirectly linked to glycine-serine metabolism, further validating our previous genetic findings. We also found changes unrelated to PSPH, PHGDH and CPS1 activity. Most pronounced, levels of several lipid groups were altered, with increased phosphatidylethanolamines being the most affected lipid group. Assessing correlations between different metabolites across our samples revealed putative functional connections. Correlations between phosphatidylethanolamines and sphingomyelin, and glycine-serine and sphingomyelin, observed in controls, were reduced in MacTel patients, suggesting metabolic re-wiring of sphingomyelin metabolism in MacTel patients. Our findings provide novel insights into metabolic changes associated with MacTel and implicate altered lipid metabolism as a contributor to this retinal neurodegenerative disease.

Purpose: To investigate the progression characteristics of ellipsoid zone (EZ) loss in eyes with macular telangiectasia type 2 (MacTel) as reflected by area and linear measurements, and their relevance for visual acuity., Methods: Participants were selected from the MacTel Study cohort. Linear and area measurements of EZ loss were performed in Spectral-Domain Optical Coherence Tomograph (SD-OCT) volume scans. Progression characteristics and correlations between linear and area measurements were analysed using linear mixed effects models., Results: A total of 134 eyes of 70 patients were included (85 eyes with follow-up, mean 4.7 years, range: 1.4-8 years). Ellipsoid zone (EZ) loss significantly progressed at a mean annual increment of 0.057 mm 2 (p = 0.005). The progression rate was non-linear and interacted significantly with initial EZ lesion size indicating an exponential growth before reaching a plateau. There was a strong heterogeneity in area sizes between fellow eyes. EZ break length had a significant linear effect on EZ break area (b = 1.06, p < 0.001) and could predict it. The location of the EZ break had a significant impact on visual acuity., Conclusion: Ellipsoid zone (EZ) loss in MacTel has a non-linear progression characteristic, and its rate depends on area size at baseline, which must be taken into account at sample selection in clinical trials. Our results show a good correlation of linear and area measures of EZ loss and a segregation of best-corrected visual acuity by EZ location, which may help routine clinical practice., (© 2019 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Background: Identifying mechanisms of diseases with complex inheritance patterns, such as macular telangiectasia type 2, is challenging. A link between macular telangiectasia type 2 and altered serine metabolism has been established previously., Methods: Through exome sequence analysis of a patient with macular telangiectasia type 2 and his family members, we identified a variant in SPTLC1 encoding a subunit of serine palmitoyltransferase (SPT). Because mutations affecting SPT are known to cause hereditary sensory and autonomic neuropathy type 1 (HSAN1), we examined 10 additional persons with HSAN1 for ophthalmologic disease. We assayed serum amino acid and sphingoid base levels, including levels of deoxysphingolipids, in patients who had macular telangiectasia type 2 but did not have HSAN1 or pathogenic variants affecting SPT. We characterized mice with low serine levels and tested the effects of deoxysphingolipids on human retinal organoids., Results: Two variants known to cause HSAN1 were identified as causal for macular telangiectasia type 2: of 11 patients with HSAN1, 9 also had macular telangiectasia type 2. Circulating deoxysphingolipid levels were 84.2% higher among 125 patients with macular telangiectasia type 2 who did not have pathogenic variants affecting SPT than among 94 unaffected controls. Deoxysphingolipid levels were negatively correlated with serine levels, which were 20.6% lower than among controls. Reduction of serine levels in mice led to increases in levels of retinal deoxysphingolipids and compromised visual function. Deoxysphingolipids caused photoreceptor-cell death in retinal organoids, but not in the presence of regulators of lipid metabolism., Conclusions: Elevated levels of atypical deoxysphingolipids, caused by variant SPTLC1 or SPTLC2 or by low serine levels, were risk factors for macular telangiectasia type 2, as well as for peripheral neuropathy. (Funded by the Lowy Medical Research Institute and others.)., (Copyright © 2019 Massachusetts Medical Society.)

Purpose: Macular telangiectasia type 2 (MacTel) is a bilateral neurodegenerative disorder of the central macula. Previous findings indicated more functional impairment in low light conditions. We sought to further characterize retinal dysfunction using dark-adapted two-color fundus-controlled perimetry ("scotopic microperimetry")., Methods: Participants of the MacTel Natural History Observation Registry study and age-matched healthy controls underwent retinal imaging including dual wavelength autofluorescence macular pigment optical density (MPOD) measurement. Retinal sensitivity was assessed with scotopic microperimetry using cyan (505 nm) and red (627 nm). Disease was graded into classes of MPOD loss (0 to 3). For perimetry analysis, the differences of the mean sensitivities (MacTel minus controls) were compared at each test location and the results were aggregated to global indices., Results: Thirty-four eyes (19 patients, mean age 62.2 years) were compared with 25 eyes (25 controls, mean age 61.5 years). Both cyan and red sensitivity were lower in MacTel. This was more pronounced at one- and three-degree eccentricity. Eyes with MPOD class 0 did not exhibit a functional deficit. Class 1 had impaired cyan, but normal red sensitivity. Class 2 and 3 behaved similarly and had impaired cyan and red sensitivity with a relatively higher cyan impairment., Conclusions: Rods might be compromised to a greater extent than cones. Linking to previous studies, our results might also hint toward (postreceptoral) dysfunction of the cone system in very early disease stages. Macular pigment loss and global perimetry indices seemed to reflect functional impairment and might be useful as adjunct measures for disease progression.

Background/aim: Macular pigment optical density (MPOD) is centrally depleted early on in macular telangiectasia type 2 (MacTel). Contrast sensitivity (CS) might be related to MPOD, and thus impaired in early MacTel. The effect of low luminance was assessed on both CS and best corrected visual acuity (BCVA)., Methods: This is a cross-sectional study. Pelli-Robson charts were used for CS testing at 1 m in photopic (110 lux) and mesopic (1 lux) conditions. BCVA was tested with ETDRS charts and low luminance visual acuity (LLVA) with a 2.0 log unit neutral density filter. MPOD was obtained with dual-wavelength autofluorescence., Results: One hundred and three eyes of 52 patients with MacTel (mean±SD age 62.9±10.2, range 35-77) were compared with 34 healthy eyes of 17 controls (mean±SD age 65.2±7.4, range 53-78). CS was significantly lower in the eyes with MacTel. This impairment was higher in low light conditions (low light contrast sensitivity (LL-CS)). Eyes at the early stages of MacTel had significantly lower LL-CS than controls, but normal (photopic) CS. The results were similar but less pronounced for BCVA/LLVA. Decrease in CS was correlated with loss of MPOD., Conclusions: Low light conditions have a detrimental effect on visual performance in MacTel. Impaired CS might correlate with MPOD depletion as a pathognomonic finding in MacTel. Functional impairment might precede structural disintegration, indicating dysfunction at the cellular level. The applied tests might be useful as additional functional assessments in clinical routine and as outcome measures in future interventional clinical trials., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Purpose: In patients with macular telangiectasia Type 2, blue light reflectance imaging reveals an oval, parafoveal area in the macula that has increased reflectance compared with its surrounding. Here, we examine how dark adaptation and photobleaching can affect the blue light reflectance imaging pattern., Methods: Prospective study of patients with macular telangiectasia enrolled in the MacTel Natural History Observation Study. After dark adaptation, a sequence of images was obtained with a confocal scanning laser ophthalmoscope at 488 nm. Change of reflectance patterns was analyzed over time., Results: Eighteen eyes from 16 patients were analyzed. Initially, increased reflectivity in the parafoveal area resulted in higher gray values compared with the paramacular surrounding on blue light reflectance imaging. The difference between parafoveal and paramacular reflectance intensity decreased steadily during imaging, from 17.7 gray-value units (95% confidence interval: 12.1-23.2) down to 2.8 (95% confidence interval: -0.8 to 6.5) after around 30 seconds, and recovered after 5 minutes of dark adaptation., Conclusion: A bleaching effect was evident in our study. Understanding these changes is important for both diagnosis and assessment of blue light reflectance phenotype in patients with macular telangiectasia and could also provide further insights into the pathophysiology of this disease.

Purpose: Pigment in the midretina is a characteristic sign in Type 2 idiopathic macular telangiectasia (MacTel) and is considered to characterize the late stage of the disease. Our aim was to investigate its incidence, and relationship with risk factors for MacTel, including outer retinal vascularization and subretinal neovascular proliferation (SRNV)., Methods: Pigment extent was measured in fundus autofluorescence images of 150 eyes of 75 MacTel probands, using the Region Finder tool of Heidelberg Eye Explorer. A linear mixed model was used to analyze the dynamics of pigment and its associations with other features of the phenotype. The relative incidence of pigment and of outer retinal outer retinal vascularization and SRNV was analyzed within the full MacTel Study cohort (1,244 probands)., Results: Mean pigment area at baseline was 0.157 mm (range = 0-1.295 mm, SD = 0.228 mm, n = 101). Progression demonstrated a nonlinear pattern (P < 0.001) at an overall rate of 0.0177 mm/year and was associated with the initial plaque size and with SRNV. There was a strong correlation between fellow eyes (P ≤ 0.0001). In approximately 25% of all SRNV cases, SRNV may coincide with or precede pigment., Conclusion: Our data may be useful for refining the current system for staging disease severity in MacTel.

Idiopathic juxtafoveal retinal telangiectasis type 2 (macular telangiectasia type 2; MacTel) is a rare neurovascular degenerative retinal disease. To identify genetic susceptibility loci for MacTel, we performed a genome-wide association study (GWAS) with 476 cases and 1,733 controls of European ancestry. Genome-wide significant associations (P < 5 × 10 -8 ) were identified at three independent loci (rs73171800 at 5q14.3, P = 7.74 × 10 -17 ; rs715 at 2q34, P = 9.97 × 10 -14 ; rs477992 at 1p12, P = 2.60 × 10 -12 ) and then replicated (P < 0.01) in an independent cohort of 172 cases and 1,134 controls. The 5q14.3 locus is known to associate with variation in retinal vascular diameter, and the 2q34 and 1p12 loci have been implicated in the glycine/serine metabolic pathway. We subsequently found significant differences in blood serum levels of glycine (P = 4.04 × 10 -6 ) and serine (P = 2.48 × 10 -4 ) between MacTel cases and controls.

Background: The assessment of health-related quality of life (hrQoL) is an important tool in therapy studies and in the treatment of patients with Huntington's disease (HD). In the absence of causal interventions, HD therapy targets the alleviation of symptoms aiming to improve impaired hrQoL. The aim of this study was to determine the impact of disease characteristics on hrQoL in HD., Methods: A total of 80 genetically confirmed HD patients underwent an assessment using the Unified Huntington's Disease Rating Scale, the Beck Depression Inventory, the Hamilton Rating Scale and the SF-36, a scale for the assessment of physical and mental QoL., Results: Multiple regression analysis revealed that health-related physical and mental QoL was considerably influenced by the functional capacity. The mental QoL also correlated with the degree of depressive symptoms, age and the number of CAG repeats. However, there was no statistical relation between QoL and motor and cognitive abilities., Discussion: This study underlines the relationship between function capacity and depressive symptoms with mental and physical QoL. This is the first time that hrQoL has been investigated in a German speaking cohort. The results are in accordance with previous studies of hrQoL in HD.

Background: The majority of Huntington's disease (HD) mutation carriers experience some psychopathology during their lifetime, varying from irritability to psychosis, but prevalences of particular symptoms vary widely due to diverse study populations in different stages of HD and the use of different assessment methods., Methods: The study population consisted of 1993 HD mutation carriers from 15 European countries, all participating in the observational REGISTRY study. The behavioural section of the Unified HD Rating Scale was used to examine the prevalence and correlates of five neuropsychiatric features: depression, irritability/aggression, obsessive/compulsive behaviours, apathy and psychosis., Results: Twenty-seven per cent of the participants did not have any neuropsychiatric symptom in the last month. Moderate to severe apathy occurred in 28.1% of the participants, whereas moderate to severe depression was found in 12.7%. Irritable/aggressive symptoms were present in 13.9% of the participants, and 13.2% showed obsessive/compulsive behaviours. Moderate to severe psychotic symptoms were found in only 1.2%. Only 54.9% of all participants with moderate to severe depression used antidepressants, suggesting undertreatment of depression. Obsessive/compulsive behaviours and irritability/aggression were inversely correlated with the Total Functional Capacity score, but with apathy showing the strongest inverse association., Conclusions: A variety of neuropsychiatric symptoms are highly prevalent in different stages of HD in this European HD population, with apathy as the most frequent symptom. Depression, irritability/aggression and OCBs are prevalent in all stages of HD. Apathy was the key neuropsychiatric symptom occurring most often in advanced HD stages. Due to possible selection of relatively healthy participants, prevalences reported in this study might be an underestimation of prevalence in the entire HD population., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Depressive symptoms and religious/spiritual (R/S) practices are widespread around the world, but their intersection has received relatively little attention from mainstream mental health professionals. This paper reviews and synthesizes quantitative research examining relationships between R/S involvement and depressive symptoms or disorders during the last 50 years (1962 to 2011). At least 444 studies have now quantitatively examined these relationships. Of those, over 60% report less depression and faster remission from depression in those more R/S or a reduction in depression severity in response to an R/S intervention. In contrast, only 6% report greater depression. Of the 178 most methodologically rigorous studies, 119 (67%) find inverse relationships between R/S and depression. Religious beliefs and practices may help people to cope better with stressful life circumstances, give meaning and hope, and surround depressed persons with a supportive community. In some populations or individuals, however, religious beliefs may increase guilt and lead to discouragement as people fail to live up to the high standards of their religious tradition. Understanding the role that R/S factors play in preventing depression, facilitating its resolution, or leading to greater depression will help clinicians determine whether this is a resource or a liability for individual patients.

Contamination of enteral feeds may occur during preparation, storage, decanting, and administration to patients. The aim of this study was to investigate the microbiological quality of reconstituted enteral feeds, residual feeds from feed delivery systems, and the water used to reconstitute powdered feeds in hospital. Hazard Analysis Critical Control Points (HACCP) system was implemented to control microbiological contamination of the enteral feeding formulations. Before the implementation of the HACCP system microbiological analyses of feeds showed the presence of indicator organisms such as coliforms and Enterococcus spp. and unacceptably high levels of mesophilic aerobic microorganisms (>10(4) cfu/mL). After the implementation of the HACCP, the microbial quality of the feeds improved significantly, with counts of <10(1) cfu/mL. Blenders used in reconstituting feeds were found to be the main source of bacterial contamination.

Object: Whereas the removal of subarachnoid blood is possible during early-stage aneurysm surgery, this cannot be achieved in aneurysms treated by endovascular means. The levels of potential spasmogens in the cerebrospinal fluid (CSF) in patients receiving endovascular treatment might therefore be higher, with the potential for more severe post-subarachnoid hemorrhage (SAH) vasospasm., Methods: Serum and CSF concentrations of big endothelin (ET)-1 were serially measured in patients with SAH receiving one of the following treatments: 1) early (within 72 hours of SAH) aneurysm surgical treatment (15 patients), 2) early endovascular treatment (17 patients), or 3) no intervention in the acute phase (12 patients). In patients suffering delayed infarctions higher levels of big ET-1 CSF were demonstrated than in those without infarctions (p = 0.01). In patients in whom surgery was performed in the acute phase lower big ET-1 CSF concentrations were demonstrated than in those who received embolization treatment or no treatment (p = 0.02). Subgroup analysis demonstrated that in patients receiving early endovascular treatment, higher big ET-1 CSF concentrations were revealed than in those undergoing early aneurysm surgery; this was true for patients with (microsurgerytreated, 1.84 +/- 0.83 pg/ml; and embolization-treated 2.19 +/- 0.54 pg/ml) and without (microsurgery-treated 1.76 +/- 0.61 pg/ml; and embolization-treated 2.01 +/- 0.48 pg/ml) delayed infarctions., Conclusions: Among patients with SAH who received treatment during the acute phase, those undergoing early aneurysm surgery were shown to have lower big ET-1 CSF levels than those receiving embolization and no treatment (that is, the nonsurgical treatment groups). The clinical significance of this finding remains to be established in future clinical trials, because in the present study the trend toward lower levels of big ET-1 CSF in the microsurgically treated group was not paralleled by a lower delayed stroke rate or an improvement in neurological outcome.

The surface of the medial edge epithelium of embryonic day 12, 13 and 14 mouse palatal shelves was observed utilising Environmental Scanning Electron Microscopy (ESEM). This technique offers the advantage of visualisation of biological samples after short fixation times in their natural hydrated state. Bulging epithelial cells were observed consistently on the medial edge epithelium prior to palatal shelf fusion. Additionally, we have used ESEM to compare the morphology and surface features of palatal shelves from embryonic day 13 to 16 mouse embryos that are homozygous null (TGF-beta3 -/-), heterozygous (TGF-beta3 +/-) or homozygous normal (TGF-beta3 +/+) for transforming growth factor beta-3 (TGF-beta3). At embryonic day 15 and 16 most TGF-beta3 +/- and +/+ embryos showed total palatal fusion, whilst all TGF-beta3 null mutants had cleft palate: the middle third of the palatal shelves had adhered, leaving an anterior and posterior cleft. From embryonic day 14 to 16 abundant cells were observed bulging on the medial edge epithelial surface of palates from the TGF-beta3 +/- and +/+ embryos. However, they were never seen in the TGF-beta3 null embryos, suggesting that these surface bulges might be important in palatal fusion and that their normal differentiation is induced by TGF-beta3. The expression pattern of E-Cadherin, beta-catenin, chondroitin sulphate proteoglycan, beta-Actin and vinculin as assayed by immunocytochemistry in these cells shows specific variations that suggest their importance in palatal shelf adhesion.

The aim of this study was to evaluate the incidence of cognitive and affective problems in the treatment of children suffering from myodystrophy. It was hypothesised that psychomotory assessment taking appropriate account of data regarding the evaluation of cognitive and affective development might allow an adequate and realistic therapeutic protocol to be defined. For this purpose the authors examined 55 myodystrophic patients aged between 6 and 10 years old during the period January 1980 and June 1993 using traditional psychomotory tests (Stanford-Binet and/or WISC in relation to the various age groups), projective tests (CAT, TAT) and graphic tests. The latter were also evaluated according to Koppitz's criterion which enabled emotional indicators (EI) to be assessed. All 55 cases were evaluated in collaboration with the 1st Pediatric Clinic of the Neuro-Psychomotory Unit of "G. Gaslini" Institute. Psychomotory treatment, which by definition is addressed to the entire person, specifically took cognitive and affective data into consideration. In fact, as observed by Johnson and Alexander, in myodystrophy functional skills are more often limited by cognitive and motivational factors than by actual menomation. The results showed that the concentration on psychological aspects in the rehabilitation of myodystrophic children allows the neuropsychological component of movement (practognosia) to be preserved for as long as possible despite the progress of instrumental deficit (anatomic degeneration). In the authors' experience and in comparison to that of other Authors, it was possible to state that a "personalized" approach allows the subjects to improve their own "presence in the world".

We studied central and peripheral hemodynamics and exercise tolerance in 24 patients with left ventricular dysfunction. All were in NYHA class II or III, and echocardiographic left ventricular ejection fraction was < 35% without pharmacologic influences. Patients underwent to treadmill test (Naughton protocol), cardiopulmonary upright bicycle test, and supine bicycle test with haemodynamic measurements. All tests were exhaustive. Average exercise time was 9 +/- 3.4 min, (range 3-20). Average ejection fraction (.28 +/- 0.65) dis not correlate with working capacity (r = .32), nor did left ventricular filling pressure (pulmonary capillary wedge pressure) at rest and at peak exercise (r = .29 and r = .02). Stroke volume and stroke volume index were on average depressed, with no variations during work; cardiac output and cardiac index were also depressed, with a significant increase at peak exercise (both p < .001). Systemic and pulmonary resistances were increased, but systemic resistances tended to decrease during effort (p < .001), while pulmonary resistances did not (p = NS). We subdivided patients according to systemic vascular resistances lower or higher than 1500 dynes.cm.sec-5 at rest; this identifies two different working capacities (low systemic vascular resistances 11.7 +/- 4.4 min, high systemic vascular resistances 6.9 +/- 3.2 min, p < .05). Patients were then divided in two groups: group I (rest stroke volume > 60 ml) and group II (rest stroke volume < 60 ml). Group I worked 11 +/- 5 min, group II 8.5 +/- 3 min (p < .05). We performed a linear regression analysis between cardiac output and systemic vascular resistances at rest and during exercise in the two groups.(ABSTRACT TRUNCATED AT 250 WORDS)

In the present study we evaluated the influence of intravenous thrombolysis and patency of the infarct-related coronary artery on both markers of ventricular electrical instability and incidence of late arrhythmic events after acute myocardial infarction (AMI). Ninety one patients surviving a first AMI who consecutively performed coronary angiography were enrolled in the present study; 44 patients (48%) received thrombolysis, 47 patients (52%) were treated conventionally. Of 91 patients, 90 (99%) had signal-averaged electrocardiogram (SAECG), and 40 (44%) programmed ventricular stimulation. No significant difference was observed between thrombolytic-treated and control group in late potential rate, SAECG determinants and ventricular arrhythmia inducibility. Of 91 patients, 40 (44%) had occlusion of the infarct-related artery: of these, 15 (37%) had late potentials compared with 5 of 51 patients (9%) with a patent artery (p < 0.01). Mean left ventricular ejection fraction was not significantly different between the two groups (0.50 +/- 0.15 vs 0.55 +/- 0.12; p = NS). No significant difference was present between the two groups of patients with regard to inducibility of sustained ventricular tachyarrhythmias, however an odds ratio of 3.5 was observed in the group with a closed vessel.(ABSTRACT TRUNCATED AT 250 WORDS)

Background: The appearance or the increase of repolarization abnormalities in the EKG during post exercise (ET) recovery phase (R) is considered a marker of ischemia., Methods: In order to evaluate the real meaning of these changes we compared the EKG data with eventual modifications of left ventricular kinesis analyzed by 2D-ECHO. 10 male patients with previous myocardial infarction, mean age 50 +/- 4.8 y, underwent exercise testing on a treadmill (Bruce's protocol) and continuous 2D-ECHO observation from the end of exercise along the whole R. Patients were divided in two groups: Group A (6 patients) and Group B (4 patients), all free of symptoms., Results: Group A showed ischemic EKG markers during exercise which increased during R; Group B showed ischemic EKG markers only during R. The 2D-ECHO showed in Group A an impairment of left ventricular kinesis at peak exercise without increase or extension during R (WMSI at rest 1.32; peak ET 1.60; R 1.60); in Group B the kinetic alterations appeared only in R (WMSI at rest 1.33, peak ET 1.42; R 1.80), strictly related to EKG markers., Conclusions: The data suggest : 1) that the increase of EKG abnormalities already present during exercise do not seem to imply more severe ischemia; 2) that EKG changes appearing during R are markers of ischemia which occur in the R.

The influence of intravenous thrombolysis on both prevalence of ventricular late potentials and incidence of late arrhythmic events was evaluated in 174 consecutive patients surviving a first acute myocardial infarction; 106 patients (61%) received thrombolysis (group A) and 68 (34%) had conventional therapy (group B). In group A, 18 patients (17%) had late potentials compared with 23 (34%) in group B (p less than 0.05); mean left ventricular ejection fraction was not different (0.50 +/- 0.09 vs 0.50 +/- 0.10; p = not significant [NS]). Of 63 patients who underwent coronary arteriography because of postinfarction ischemia, 28 (44%) had a closed infarct-related artery; of these, 11 (39%) had late potentials compared with 3 of 35 (9%) with a patent artery (p less than 0.01). Mean left ventricular ejection fraction was not significantly different between the 2 groups (0.49 +/- 0.09 vs 0.53 +/- 0.09; p = NS). At a mean follow-up of 14 +/- 8 months, 8 of 161 patients (5%) had a late arrhythmic event; 6 of 8 (75%) with and 28 of 153 (18%) without events had late potentials (p less than 0.001). In group A, 4 of 99 patients (4%) had events compared with 4 of 62 (6%) in group B (p = NS, relative risk 1.6). Of 24 patients with anterior wall AMI and left ventricular dyskinesia, 6 events occurred. In this group of patients, a higher rate of events was observed (25%); 3 of 16 (19%) treated with thrombolysis had an event compared with 3 of 8 (37%) treated conventionally (p = NS, relative risk 2.6).(ABSTRACT TRUNCATED AT 250 WORDS)

Early functional evaluation after non-complicated acute myocardial infarction (AMI) is widely recommended because of its prognostic value in the short term. In fact it seems to have a prognostic value within 15-20 days of the AMI, but in this period the patient is particularly controlled and is often still hospitalized. To evaluate the real significance of an early functional evaluation within 10 days of the AMI (mean 8.6 days +/- 1.2) as compared to an identical functional evaluation performed at 3 weeks after AMI (mean 20.16 days +/- 5.38) 25 patients with uncomplicated myocardial infarction were studied. Significant statistical differences were found between the first (ET1) and second (ET2) functional evaluations: they concern the maximal heart rate reached (P less than 0.001), the maximal pressure-rate product (P less than 0.05), the percentage increment of heart rate (P less than 0.01) and the total work performed (P less than 0.001). Agreement between ET1 and ET2 was found in 19 cases; 12 patients showed markers of ischaemia both at ET1 and ET2, while seven were free from ischaemia at both times. In six cases a disagreement between ET1 and ET2 was found: in particular, three cases had ischaemic ET1 and nonischaemic ET2; the reverse was seen in the other three. During follow-up (mean 215.4 days +/- 85.5), the total number of new events (reinfarctions, angina or surgery) among the 25 patients was eight; none occurred within the first 30 days after the AMI.(ABSTRACT TRUNCATED AT 250 WORDS)

Treatment of childhood enuresis requires a careful anamnesis, physical examination, urinalysis, and urine culture to determine if a subject is affected with functional or organic enuresis. Functional enuresis (FE) was present in the majority of our patients (168/204). These 168 subjects, aged from 6 to 11 years, were randomly divided into three therapy groups (pharmacological therapy, behavioral therapy, and behavioral therapy with the aid of a personal computer). Our study shows that behavioral therapy gave better results in FE than did pharmacological therapy. We point out the usefulness of combining bladder retention training and behavioral therapy to improve the general maturity and autonomous behavior of the child, and the resultant positive effects on his personality.