Reliability of Functional and Diffusion MR Imaging Near Cerebral Cavernous Malformations.

BACKGROUND AND PURPOSE: Surgical resection of cerebral cavernous malformations close to eloquent regions frequently uses fMRI and DTI for surgical planning to best preserve neurologic function. This study investigates the reliability of fMRI and DTI near cerebral cavernous malformations. MATERIALS AND METHODS: Consecutive patients with cerebral cavernous malformations undergoing presurgical fMRI and DTI mapping were identified. Each cerebral cavernous malformation was hand-contoured; 2 sequential 4-mm expansion shells (S1 and S2) were created, generating 2 ROIs and 2 contralateral controls. Fractional anisotropy and regional homogeneity measurements were then extracted from each ROI and compared with the contralateral controls. Reliability, accuracy, and precision were compared as appropriate. RESULTS: Fifty-four patients were identified and included. Errors of fractional anisotropy were significantly lower than those of regional homogeneity in S1 and S2 (P < .001), suggesting that fractional anisotropy is more reliable than regional homogeneity near cerebral cavernous malformations. Proximity to cerebral cavernous malformations worsened the reliability of regional homogeneity (S1 versus S2, P < .001), but not fractional anisotropy (P = .24). While fractional anisotropy was not significantly biased in any ROI (P > .05), regional homogeneity was biased toward lower signals in S1 and S2 (P < .05), an effect that was attenuated with distance from cerebral cavernous malformations (P < .05). Fractional anisotropy measurements were also more precise than regional homogeneity in S1 and S2 (P < .001 for both). CONCLUSIONS: Our findings suggest that hemosiderin-rich lesions such as cerebral cavernous malformations may lead to artifactual depression of fMRI signals and that clinicians and surgeons should interpret fMRI studies near cerebral cavernous malformations with caution. While fMRI is considerably affected by cerebral cavernous malformation-related artifacts, DTI appears to be relatively unaffected and remains a reliable imaging technique near cerebral cavernous malformations.

Gallbladder polyps ultrasound: what the sonographer needs to know.

Gallbladder polyps are protuberances of the gallbladder wall projecting into the lumen. They are usually incidentally found during abdominal sonography or diagnosed on histopathology of a surgery specimen, with an estimated prevalence of up to 9.5% of patients. Gallbladder polyps are not mobile and do not demonstrate posterior acoustic shadowing; they may be sessile or pedunculated. Gallbladder polyps may be divided into pseudopolyps and true polyps. Pseudopolyps are benign and include cholesterolosis, cholesterinic polyps, inflammatory polyps, and localised adenomyomatosis. True gallbladder polyps can be benign or malignant. Benign polyps are most commonly adenomas, while malignant polyps are adenocarcinomas and metastases. There are also rare types of benign and malignant true gallbladder polyps, including mesenchymal tumours and lymphomas. Ultrasound is the first-choice imaging method for the diagnosis of gallbladder polyps, representing an indispensable tool for ensuring appropriate management. It enables limitation of secondary level investigations and avoidance of unnecessary cholecystectomies.

Reproducibility of rectal tumor volume delineation using diffusion-weighted MRI: Agreement on volumes between observers.

PURPOSE: To retrospectively evaluate the inter-observer agreement between a radiologist and a radiation oncologist and volume differences, in T2 and diffusion-weighted (DWI) MRI of gross tumor volume (GTV) delineation, in rectal cancer patients. MATERIALS AND METHODS: Two observers, a radiologist and a radiation oncologist, delineated GTVs of 50 patients on T2-weighted MRI (T2GTV) and echo planar DWI (DWIGTV). Observers agreement was assessed using DICE index, Bland-Altman analysis and intra-class correlation coefficient (ICC). Student's t-test was used for GTV comparison. RESULTS: Median T2GTV and DWIGTV were 17.09±14.12 cm3 (1.92-62.03) and 12.79±12.31 cm3 (1.23-62.25) for radiologist, and 16.82±13.66 cm3 (1.78-65.9) and 13.72±12.77 cm3 (1.29-69.75) for radiation oncologist. T2GTV were significantly larger compared to DWIGTV (P<0.001 and P<0.001, for both observers). Mean DICE index for T2GTV and DWIGTV were 0.80±0.07 and 0.77±0.06. The mean difference between the two observers were 0.26cm3 (95% CI: -5.36 to 5.88) and -1.13cm3 (95% CI: -5.70 to 3.44) for T2 and DWI volumes. The ICC for T2 volumes was 0.989 (95% CI: 0.981-0.994) (P<0.001) and 0.992 (95% CI: 0.986-0.996) (P<0.001) for DWI volumes. CONCLUSION: DWI resulted in smaller volumes delineation compared to T2-weighted MRI. Substantial and almost perfect agreements were reported for DWIGTV and T2GTV between radiologist and radiation oncologist. Due to the fact that DWI could be considered a simple technique for volume delineation for radiation oncologist, DWI could be used to improve quality in radiation planning for an accurate boost volume delineation when a dose escalation is investigated.

Predicting response to cancer immunotherapy using noninvasive radiomic biomarkers.

INTRODUCTION: Immunotherapy is regarded as one of the major breakthroughs in cancer treatment. Despite its success, only a subset of patients responds-urging the quest for predictive biomarkers. We hypothesize that artificial intelligence (AI) algorithms can automatically quantify radiographic characteristics that are related to and may therefore act as noninvasive radiomic biomarkers for immunotherapy response. PATIENTS AND METHODS: In this study, we analyzed 1055 primary and metastatic lesions from 203 patients with advanced melanoma and non-small-cell lung cancer (NSCLC) undergoing anti-PD1 therapy. We carried out an AI-based characterization of each lesion on the pretreatment contrast-enhanced CT imaging data to develop and validate a noninvasive machine learning biomarker capable of distinguishing between immunotherapy responding and nonresponding. To define the biological basis of the radiographic biomarker, we carried out gene set enrichment analysis in an independent dataset of 262 NSCLC patients. RESULTS: The biomarker reached significant performance on NSCLC lesions (up to 0.83 AUC, P < 0.001) and borderline significant for melanoma lymph nodes (0.64 AUC, P = 0.05). Combining these lesion-wide predictions on a patient level, immunotherapy response could be predicted with an AUC of up to 0.76 for both cancer types (P < 0.001), resulting in a 1-year survival difference of 24% (P = 0.02). We found highly significant associations with pathways involved in mitosis, indicating a relationship between increased proliferative potential and preferential response to immunotherapy. CONCLUSIONS: These results indicate that radiographic characteristics of lesions on standard-of-care imaging may function as noninvasive biomarkers for response to immunotherapy, and may show utility for improved patient stratification in both neoadjuvant and palliative settings.

Spectroscopy analysis of phenolic and sugar patterns in a food grade chestnut tannin.

Tannin of chestnut (Castanea sativa Mill.) wood, commonly used in winemaking was characterised with a spectroscopy qualitative approach that revealed its phenolic composition: several vibrational diagnostic bands assigned using the Attenuated Total Reflectance-Infrared Spectroscopy, and fragmentation patterns obtained using the Laser-Desorption-Ionization Time-of-Flight technique evidenced polygalloylglucose, e.g. castalagin/vescalagin-like structures as the most representative molecules, together with sugar moieties. The implication of these findings on winemaking application and the potential influence of the chemical structure on the sensory properties of wine are discussed.

Deoxygenation of waste cooking oil and non-edible oil for the production of liquid hydrocarbon biofuels.

Deoxygenation of waste cooking vegetable oil and Jatropha curcas oil under nitrogen atmosphere was performed in batch and semi-batch experiments using CaO and treated hydrotalcite (MG70) as catalysts at 400 °C. In batch conditions a single liquid fraction (with yields greater than 80 wt.%) was produced containing a high proportion of hydrocarbons (83%). In semi-batch conditions two liquid fractions (separated by a distillation step) were obtained: a light fraction and an intermediate fraction containing amounts of hydrocarbons between 72-80% and 85-88% respectively. In order to assess the possible use of the liquid products as alternative fuels a complete chemical characterization and measurement of their properties were carried out.

Does gait analysis change clinical decision-making in poststroke patients? Results from a pragmatic prospective observational study.

BACKGROUND: Gait analysis (GA) was demonstrated to change presurgical planning and improve gait outcomes in children with Cerebral Palsy. GA is often used also to assess walking capability of poststroke subjects, although its influence in the clinical management of these patients has not yet been established. OBJECTIVE: To assess the impact of GA on clinical decision-making in adult chronic poststroke patients. DESIGN: Pragmatic prospective observational study. SETTING: Rehabilitation hospital, both outpatients and inpatients. POPULATION: Forty-nine patients (age: 53.3±14.5 years) who had had a cerebrovascular accident 35.2±26.4 months before and were referred to the gait analysis service. METHODS: Recommendations of therapeutic treatments before and after the analysis of GA data were compared, together with the confidence level of recommendations on a 10-point scale. Frequency of changes of post-GA vs pre-GA recommendations were computed for each recommendation type: surgery, botulinum toxin (BT), orthotic management and physiotherapy. RESULTS: Based on the analysis of GA data, 71% of poststroke subjects had their treatment planning changed in some components. Indeed, 73% of patients with indications for surgery had their surgical planning changed; 81%, 37% and 32% had, respectively, their BT, orthotic and physiotherapy planning changed. Confidence level of recommendations increased significantly after GA, in both the whole group of patients (from 6.7±1.4 to 8.7±0.6, P<0.01) and the subgroup whose recommendations had not changed (7.0±1.5 vs. 8.8±0.4, P<0.01). CONCLUSION: GA significantly influences the therapeutic planning and reinforces decision-making for chronic poststroke patients. Further work should be done to better translate GA results into indications for specific physiotherapy. CLINICAL REHABILITATION IMPACT: The use of GA as a tool to better define the rehabilitation planning in post-stroke patients should be fostered, particularly when surgery or botulinum toxin are considered and/or the prescription of orthoses is hypothesised.

Kinetics of the hydrothermal treatment of tannin for producing carbonaceous microspheres.

Aqueous solutions of condensed tannins were submitted to hydrothermal carbonization (HTC) in a stainless steel autoclave, and the kinetics of hydrothermal carbon formation was investigated by changing several parameters: amount of tannin (0.5; 1.0; 1.5; 2.0 g in 16 mL of water), HTC temperature (130, 160, 180 and 200°C) and reaction times (from 1 to 720 h). The morphology and the structure of the tannin-based hydrothermal carbons were studied by TEM, krypton adsorption at -196°C and helium pycnometry. These materials presented agglomerated spherical particles, having surface areas ranging from 0.6 to 10.0 m(2) g(-1). The chemical composition of the hydrothermal carbons was found to be constant and independent of reaction time. HTC kinetics of tannin were determined and shown to correspond to first-order reaction. Temperature-dependent measurements led to an activation energy of 91 kJ mol(-1) for hydrothermal conversion of tannin into carbonaceous microspheres separable by centrifugation.

Biomechanical and electromyographic assessment of spastic hypertonus in motor complete traumatic spinal cord-injured individuals.

STUDY DESIGN: Between-groups design with repeated measures. OBJECTIVE: To quantify spastic hypertonia in spinal cord-injured (SCI) individuals. SETTING: Rehabilitative Center, Italy. SUBJECTS: 29 individuals with a motor complete SCI (American Spinal Injury Association impairment scale grade A or B) and 22 controls. METHODS: According to the modified Ashworth scale (MAS), patients were subgrouped as SCI-1 (MAS=1, 1+) and SCI-2 (MAS=2, 3). Passive flexo-extensions of the knee were applied using an isokinetic device (LIDO Active) at 30°, 60°, 90° and 120° s(-1). We measured the peak torque, mean torque (MT) and work. Simultaneous electromyography (EMG) was recorded from leg muscles. RESULTS: At the speed of 120° s(-1) all SCI-2 patients presented EMG reflex activities in the hamstring muscle. All biomechanical parameter values increased significantly according to speed, but analysis of variance revealed a significant interaction between the angular velocity and group (F(d.f. 6, 138) = 8.89, P < 0.0001); post hoc analysis showed significantly greater torque parameter values in the SCI-2 group compared with the SCI-1 group and the control group at 90° and 120° s(-1). Receiver operating characteristic curves showed that using peak torque values the probability of correctly classifying a patient into SCI-1 and SCI-2 was 95%, compared with 70% for MT and 68% for work. CONCLUSIONS: The isokinetic device is useful for distinguishing individuals with a high level of spastic hypertonus. Examination of EMG activity may help ascertain whether increased muscle tone is caused by reflex hyper excitability and to determine whether muscle spasm is present. Peak torque and simultaneous EMG assessment should be considered for the evaluation of individuals with SCI in the rehabilitative context, that is, in measuring therapeutic interventions.

X-ray microtomography studies of tannin-derived organic and carbon foams.

Tannin-based rigid foams of different bulk densities and their carbonized counterparts were investigated for the first time by X-ray microtomography. This method allowed acquisition of three-dimensional pictures of such highly porous materials. Through mathematical treatment of the images, extremely useful physical characteristics such as porosity, fraction of open cells, connectivity, tortuosity, and pore-size distribution were determined as a function of the foam's density. The obtained information was compared with independent data derived from pycnometry measurements and scanning electron microscope image analysis. The agreement was shown to be acceptable in the limit of the accuracy of the laboratory microtomograph (4 microm). Moreover, recalculating properties like permeability were shown to be quite possible based on the results of standard microtomography data.

Tannin-based rigid foams: a survey of chemical and physical properties.

Tannin-based rigid foams, prepared from 95% natural material, are suggested for replacing synthetic phenol-formaldehyde foams in various applications. For that purpose, a few physical properties were measured and reported here: resistance to fire and chemicals, absorption of various liquids, permeability, thermal conductivity and mechanical (compressive and tensile) strength. Modifying the composition through the use of boric and/or phosphoric acid allowed substantial increase of fire resistance. The materials were also found to present good resistance to strong acid and bases, and to solvents. High affinity for water, but limited one for organic liquids, was also evidenced. Finally, slightly anisotropic mechanical properties were measured. The materials present a brittle behaviour, whether tested in compression or traction; nevertheless, their strengths, as well as their thermal conductivities, are fully comparable with those of their phenolic counterparts. We show that such materials of vegetable origins can compete with synthetic ones for most of traditional applications.

The cardiovascular profile of soccer referees: an echocardiographic study.

BACKGROUND: During a soccer game, the cardiovascular system is severely taxed The referees must be alert and their level of fitness must be such that fatigue will not impair their decision-making. Referee's peak overall performance is usually after 40 when the performance starts to decline. We evaluated the morphological and functional cardiac profile of professional soccer referees. MATERIALS AND METHODS: We submitted to a clinical and echocardiographic exam a group of 120 professional soccer referees aged 25 - 45 years, including the first division of the Italian Championship, matched with 120 soccer players, including élite soccer players. Data were compared using an unpaired Student's t test. Statistical significance was with p < 0.05. RESULTS: Right ventricle dimensions (22.2 +/- 3.8 vs 25.9 +/- 2.4 mm) and Left Ventricular Mass Index (LVMi) (100.5 +/- 45.2 vs 105.4 +/- 17.3) were significantly greater in referees than in active soccer players. Left atrium dimensions (33.7 +/- 8.9 vs 36.2 +/- 3.1 mm), aortic root (29.7 +/- 7.9 vs 32.1 +/- 3 mm) and LVMi (115.1 +/- 16.7 vs 134.1 +/- 19.9 g/m2) were significantly greater in élite soccer players than in first-division referees. CONCLUSION: Our investigation shows that right ventricle is greater in referees than in soccer players. The differences (left atrium, aortic root and LVMi) between first division referees and élite soccer players may derive from the different training workloads.

Quality of life in hereditary neuromuscular diseases.

OBJECTIVE: The aim of the study is to evaluate different aspects in the quality of life (QoL) in a group of patients affected by hereditary neuromuscular disease. MATERIAL AND METHODS: Forty-five consecutive outpatients (mean age 49.46 +/- 17.07 years, range 19-80 years) with hereditary neuromuscular disease underwent the Brooke scale and functional independent measure to assess the functional status, the Sickness Impact Profile (SIP) and Psychological General Well-Being Index (PGWBI), as a measure of the QoL. RESULTS AND CONCLUSIONS: All patients had a poor QoL assessment with SIP. The higher disability level was not related to a worse QoL perception with the exception of the physical area. Females and patients above 49 years showed the worst QoL profile. The discomfort linked to the emotional and affective sphere, assessed with PGWBI, appeared low in the study sample. Therefore psychosocial aspects and economical and environmental factors may influence the QoL.

Muscle CT in peripheral neuropathies.

We studied retrospectively the muscle CT scans of 60 acquired and 40 congenital motor peripheral neuropathies in order to define the diagnostic usefulness of muscle CT in these disorders. Fifty-five percent of the acquired and 72% of the congenital forms showed muscle CT pathological changes correlated to the clinical severity. The typical finding was pure muscle atrophy but several patients also revealed areas of hypodensity. In most of the acquired forms, muscle changes affected both the thighs and legs with a prevalent involvement of the posterior muscles. The congenital forms showed early involvement of the anterior leg muscles. Our study suggests that a CT scan might be useful in evaluating the severity of muscular atrophy, its evolution in time and the prognosis of motor function, in confirming the diagnosis of acquired or congenital neuropathies, and in some cases in defining the phenotypes of congenital forms.

Perception of dyspnea in patients with neuromuscular disease.

BACKGROUND: The perception of dyspnea is not a prominent complaint of resting patients with neuromuscular disease (NMD). To our knowledge, no study has been addressed at evaluating the interrelationships among lung mechanics, respiratory motor output, and the perception of dyspnea in patients with NMD receiving ventilatory stimulation. MATERIAL: Eleven patients with NMD (mean +/- SD age, 44 +/- 11.8 years; 5 men) of different etiology and a group of normal subjects matched for age and sex (control subjects). METHODS: While patients were breathing room air, lung volumes, arterial blood gases, the pattern of breathing (minute ventilation [E], tidal volume [VT], respiratory frequency, inspiratory time), and maximal (less negative) esophageal pressure during a sniff maneuver (Pessn), as an index of inspiratory muscle strength, were measured. Then we evaluated the response to hypercapnic-hyperoxic stimulation (hypercapnic-hyperoxic rebreathing test [RT]) in terms of breathing pattern, inspiratory swing of pleural pressure (Pessw), and inspiratory effort (Pessw[%Pessn]). During the RT, dyspnea was assessed every 30 s using a modified Borg scale (0 to 10). RESULTS: Pulmonary volumes were reduced in seven patients, and PCO(2) was out of proportion to E in four patients. Group Pessn was 42.8 +/- 23.6 cm H(2)O in patients and 107 +/- 20.4 cm H(2)O in control subjects (p < 0.001). Dynamic elastance (Eldyn) [p = 0.0016] and Pessw(%Pessn) [p < 0.0005] were higher in patients. During the RT, Borg/CO(2), Pessw(%Pessn)/CO(2), and Borg/Pessw(%Pessn) were similar in the two groups, while E/CO(2) and VT/CO(2) were lower in patients (p < 0.0002 for both). As a consequence, for unit change in VT (percentage of predicted vital capacity [%VC]), greater changes in Pessw(%Pessn) were associated with greater Borg scores in patients. Baseline Eldyn related to Pessw(%Pessn)/VT(%VC) during hypercapnia (r(2) = 0.85), an index of neuroventilatory coupling of the ventilatory pump (NVC). NVC predicted a good amount of the variability in Borg/E (r(2) = 0.46, p < 0.02). CONCLUSIONS: In this subset of NMD patients during hypercapnic stimulation, a normal inspiratory motor output per unit change in PCO(2) results in a shallow breathing pattern. The consequent impairment of NVC underlies the higher scoring of dyspnea in these patients.

Mechanism of CO(2) retention in patients with neuromuscular disease.

BACKGROUND: In many studies of patients with muscle weakness, chronic hypercapnia has appeared to be out of proportion to the severity of muscle disease, indicating that factors other than muscle weakness are involved in CO(2) retention. In patients with COPD, the unbalanced inspiratory muscle loading-to-strength ratio is thought to trigger the signal for the integrated response that leads to rapid and shallow breathing and eventually to chronic hypercapnia. This mechanism, although postulated, has not yet been assessed in patients with muscular dystrophy. SUBJECTS: Twenty consecutive patients (mean age, 47.6 years; range, 23 to 67 years) were studied: 11 patients with limb-girdle dystrophy, 3 with Duchenne muscular dystrophy, 1 with Charcot-Marie-Tooth syndrome, 1 with Becker muscular dystrophy, 1 with myotonic dystrophy, 1 with facioscapulohumeral dystrophy, and 2 with amyotrophic lateral sclerosis, without any respiratory complaints. Seventeen normal subjects matched for age and sex were studied as a control group. METHODS: Routine spirometry and arterial blood gases, maximal inspiratory and expiratory muscle pressures (MIP and MEP, respectively), and pleural pressure during maximal sniff test (Pplsn), were measured. Mechanical characteristics of the lung were assessed by evaluating lung resistance (RL) and dynamic elastance (Eldyn). Eldyn was assessed as absolute value and as percent of Pplsn; Eldyn (%Pplsn) indicates the elastic load per unit of inspiratory muscle force. Breathing pattern was assessed in terms of time (inspiratory time [TI]; respiratory frequency [Rf]) and volume (tidal volume [VT]) components of the respiratory cycle. RESULTS: A rapid shallow breathing pattern, as indicated by a greater Rf/VT ratio and a lower TI, was found in study patients compared to control subjects. Eldyn was greater in study patients, while MIP, MEP, and Pplsn were lower. PaCO(2) inversely related to VT, TI, and Pplsn (p = 0.012, p = 0.019, and p = 0.002, respectively), whereas it was directly related to Rf, Rf/VT, Eldyn, and Eldyn (%Pplsn) (p < 0.004 to p < 0.0001). Also Eldyn (%Pplsn) inversely related to TI, and the latter positively related to VT. In other words, increase in Eldyn (%Pplsn) was associated with decrease in TI, and the latter was associated with lower VT and greater PaCO(2). Mechanical and breathing pattern variables were introduced in a stepwise multiple regression that selected Eldyn (%Pplsn) (p < 0.0001; r(2) = 0.62) as a unique independent predictor of PaCO(2). CONCLUSIONS: The present study shows that in patients with neuromuscular disease, elastic load and respiratory muscle weakness are responsible for a rapid and shallow breathing pattern leading to chronic CO(2) retention.

Merosin-positive congenital muscular dystrophy: a large inbred family.

Large families with congenital muscular dystrophy are rare. We report a clinical, histopathological, immunocytochemical, electrophysiological, radiological and genetic study of 10 cases affected by "pure" CMD belonging to two generations of a large inbred Palestinian family. The disease showed autosomal recessive inheritance. All patients had generalised muscular weakness and hypotonia at birth without arthrogryposis. They had a relatively benign clinical course with stabilisation of the clinical picture at different ages and at variable degrees of severity. The pattern of muscle weakness and wasting was more marked in the proximal upper limb-girdle and trunk muscles. Lower limb muscles were more mildly involved. Serum CK was normal or moderately increased. All patients had normal intelligence, normal computed tomography (CT) scans of the brain and normal somatosensory evoked potentials (SEP). Electromyography (EMG) and muscle biopsy showed morphological changes compatible with muscular dystrophy. Immunocytochemistry for dystrophin, laminin alpha 2 of merosin, and for alpha, beta, gamma sarcoglycans was normal. Linkage analysis excluded all the known loci for CMD, including laminin alpha 2 on chromosome 6q2, the Fukuyama congenital muscular dystrophy locus on 9q3, the integrin alpha 7 locus on chromosome 12q13 and the recently identified locus on 1p35-36. The family we present is clinically and genetically distinct from the already mapped forms of congenital muscular dystrophy. Genetic studies are in progress to localise the gene responsible for this condition.

Proarrhythmia associated with cisapride in children.

BACKGROUND: Cisapride is a prokinetic agent that facilitates gastrointestinal motility and is widely used for the treatment of gastroesophageal reflux disease (GERD) in adults and children. However, reports of ventricular proarrhythmia have been noted in patients taking cisapride, particularly in conjunction with other drugs that may inhibit hepatic metabolism of cisapride via the cytochrome P450 3A4 system. OBJECTIVE: We designed a prospective, blinded study to evaluate the effect of cisapride on ventricular repolarization in children with GERD. METHODS: We analyzed the electrocardiograms (ECGs) from 35 children (age 0.4 to 18 years, mean 5.2 years) including measurement of the resting QT interval (QTc), JT interval (JTc), as well as QT and JT interlead dispersion markers. Data from these patients were compared with ECGs from a control group of 1000 normal children. RESULTS: Eleven (31%) of 35 patients receiving cisapride had a prolonged QTc (> or = 450 ms). The JTc was prolonged > or = 360 ms in 16 of 35 patients (46%). The mean QTc in the cisapride group was 428 +/- 35 ms and mean JTc was 336 +/- 35 ms. An increased QT or JT dispersion (> 70 ms) was seen in only 3 of 35 children. Of the 11 children with QTc prolongation, 2 had documented torsades de pointes ventricular tachycardia. Both patients were taking cisapride concomitantly with a macrolide antibiotic. All other patients were treated with either cisapride alone or in conjunction with other GERD agents, such as ranitidine or omeprazole. CONCLUSIONS: Cisapride may cause prolongation of ventricular repolarization in children. There does not appear to be increased heterogeneity of repolarization or delayed depolarization in this small sample. The proarrhythmia may be exacerbated by medications that inhibit cytochrome P450 3A4 hepatic metabolism, overdosage, or mechanisms that result in decreased serum clearance. ECG intervals should be monitored in children maintained on cisapride, particularly when used in combination with other known QT-prolonging medications.

Limb-girdle muscular dystrophy: a follow-up study of 79 patients.

The limb-girdle muscular dystrophies (LGMD) are autosomally inherited neuromuscular diseases. Recently six different loci for LGMD have been reported: 5q (LGMD1A), 15q (LGMD2A), 2p (LGMD2B), 13q (LGMD2C), 17q (LGMD2D) and 4p-14-q21.2 (LGMD2E) respectively. We have studied 79 patients affected by LGMD during the period 1976 to 1995. All patients were examined clinically, and various investigations, including genetics were performed. According to their data we divided them as follow: 1) Cases with autosomal recessive inheritance (34.19%) of these two families are linked to chromosome 2p and the others were subdivided according to the age at onset into childhood LGMD and juvenile-adult LGMD; 2) Cases with dominant inheritance (13.92%); 3) Sporadic cases (51.89%). Onset of symptoms occurs from the first to the third decade. The clinical course varies considerably, as does the degree of disability. Our study allowed to identify two different groups of patients who relatively homogeneous with respect to their clinical and laboratory characteristics.