Characterization and validation of olive FAD and SAD gene families: expression analysis in different tissues and during fruit development.

Stearoyl-ACP desaturases (SADs) and fatty acid desaturases (FADs) play a critical role in plant lipid metabolism and also affect oil fatty acid composition introducing double bonds into the hydrocarbon chains to produce unsaturated fatty acids. In the present study, the genomic sequences of three SAD and three FAD candidate genes were characterized in olive and their expression was evaluated in different plant tissues. OeSAD genes corresponded to olive SAD1 and SAD2 and to a newly identified OeSAD4, sharing the conserved protein structure with other plant species. On the other hand, the full-length genomic sequences of two microsomal OeFAD genes (FAD2-1 and FAD2-2) and the plastidial FAD6, were released. When the level of expression was tested on different tissues of cv. Leccino, OeSAD1 and OeSAD2 were mainly expressed in the fruits, while OeFAD genes showed the lowest expression in this tissue. The mRNA profiling of all genes was directly studied in fruits of Leccino and Coratina cultivars during fruit development. In both genotypes, the expression level of OeSAD1 and OeSAD2 had the highest value during and after the pit-hardening period, when oil accumulation in fruit mesocarp is intensively increasing. Furthermore, the expression level of both OeFAD2 genes, which were the main candidates for oleic acid desaturation, were almost negligible during fruit ripening. These results have made possible to define candidate genes of the machinery regulation of fatty acid composition in olive oil, providing information on their sequence, gene structure and chromosomal location.

Onset of coeliac disease: a prospective longitudinal study.

AIM: To make a prospective assessment of close family members of patients with coeliac disease (CD) by testing their endomysium (EMA) and antigliadin antibodies once a year over a period of 12 y and to investigate whether and when they would develop a positive serology for CD while on a gluten-containing diet. METHODS: Since first-degree relatives of CD patients have a high prevalence of CD, we screened 92 children and adolescents, all first-degree relatives of coeliac patients, for EMA and total IgA antibodies, once a year. RESULTS: Among 11 relatives, at the time of the first screening, 6 already had a positive serology and histology for CD, while 5 became positive only after a period of 2 to 5 y of negative testing. The jejunal mucosa biopsy of these five relatives with retarded positive serology for CD showed a flat mucosa in four of them and a partial villous atrophy in one. They were all HLA DQ2 positive and clinically silent for CD. CONCLUSION: CD can manifest itself after years of negative serological testing.

[Superficial haemosiderosis of the central nervous system, neuro otological manifestations and images from a magnetic resonance brain scan: a case report]. / Hemosiderosis superficial del sistema nervioso central, manifestaciones neurootológicas e imágenes de resonancia magnética cerebral: a propósito de un caso.

INTRODUCTION: Superficial haemosiderosis of the central nervous system (SHCNS) is an infrequent clinical entity; it is produced by the formation of clinically silent haemosiderin deposits in the leptomeninges, the subpial tissue, the cranial nerves and spinal cord, secondary to chronic bleeding in the subarachnoid space. Aetiology is idiopathic in half the cases or secondary to a vascular malformation or other structural abnormalities. At least 100 cases have been reported in the literature, most of which were diagnosed post mortem. In these descriptions there is a predominance of cerebellar ataxia, progressive hypoacusis, nystagmus, recurring headaches, pyramidal signs, an absence of caloric responses and xanthochromic cerebrospinal fluid. Magnetic resonance (MR) brain scanning in T2 revealed hypointensity in the brain stem, the cerebellum and the Sylvian fissure, with atrophy of the cerebellum and the brain stem. CASE REPORT: A 64 year old male with bilateral tinnitus and progressive neurosensory hipoacusis, who visited because of loss of balance, urinary incontinence and oscillopsia. The patient s personal history included an episode of unbearable headache at the age of 53. The neurological and neuro otological examination was pathological and the MR brain scan confirmed the diagnosis of SHCNS. CONCLUSIONS: We wish to highlight how extremely rare this entity is, and especially so when there is a predominance of progressive neuro otological manifestations; we also want to emphasize the importance of carrying out specific imaging studies to enable a diagnosis to be made while the patient is still alive.

[Data base for patients with balance disorders]. / Base de datos para pacientes con trastornos del equilibrio.

INTRODUCTION: With the aim of integrating clinical thinking and obtaining epidemiological and biostatistical results in long series of patients who present balance disorders, we have developed a neuro otological protocol and its corresponding database. This offers answers to the questions of how to assess the patient, how to conduct a clinical interview correctly, and which complementary studies should be requested and how. RESULTS: The information from the protocol is stored and analysed in our database, which was designed in the Epi Info software application, produced by CDC (NIH, USA), in collaboration with the WHO Global Program on AIDS. The application, which we call ENO LK, has already been used to store data concerning 1,100 patients whose average age is 54.5 years old and 62.8% of which were females (SD 18, range 4 93). 69.1% were diagnosed as suffering from vertigo, 12.7% displayed instability, 1.9% syncope and 16.3% had other causes (37% psychogenic and 28% disorders affecting the central integrator). Of the 760 patients with vertigo, in 55% it was positional (60% of these were idiopathic benign), 6.3% were sustained (peripheral causes accounted for 74% and a vascular aetiology was predominant in the central causes), 26.6% were recurring and 12.1% otolithic (in this series the vertigos all had a central aetiology). CONCLUSIONS: With this application the user has the possibility of obtaining epidemiological and diagnostic conclusions efficiently and effectively, as well as aiding to follow up all patients who present balance disorders.

[A statistical analysis of 1300 patients with dizziness-vertigo. Its most frequent causes]. / Análisis estadístico de 1.300 pacientes con mareo vértigo. Causas más frecuentes.

PATIENTS AND METHODS: We analysed the records of the individuals who were attended because of dizziness or vertigo in the vestibular sector, with the aim of describing the epidemiological clinical profile of a group of patients with such symptoms. 1300 patients were systematically evaluated according to our neuro otological examination protocol. Diagnoses were ordered, according to the international classification reported by Drachman and later modified by Bahlo, in four categories: 1. Vertigo, 2. Instability, 3. Pre syncope and 4. Miscellaneous. Each of these classes was organised according to the topography of the lesion and these were in turn grouped by aetiologies (viral, vascular, tumoural, demyelinating, post traumatic, idiopathic, autoimmune, etc.). The data were stored and analysed in a computer database, Epi info 6.02 (OMS 1994), which was especially adapted by the researchers for the purpose. RESULTS: 63.1% were women. The average age was 55.5 years old (SD: 17.5, interval: 4 93). Vertigo was diagnosed in 68.9%, instability was found in 12.4%, 1.8% presented syncope and miscellaneous disorders occurred in 16.9% (of these, 64.1% had disorders of the central integrator and 16.4% were of a psychogenic origin). Of the 1300 patients, 896 presented vertigo; the positional type was seen in 54%, sustained in 6.5%, recurrent in 27.7% and 11.8% were found to have the otolithic type. CONCLUSIONS: The relevance of the epidemiological work based on clinical evaluation and the thorough neuro otological examination in our medium must be highlighted. These findings were similar to those reported in the international literature in more delimited series.

[Antiphospholipid antibodies in patients with vestibular manifestations. A study of 16 cases]. / Anticuerpos antifosfolipídicos en pacientes con manifestaciones vestibulares. Un estudio de 16 casos.

INTRODUCTION: Antiphospholipid antibodies lupus anticoagulant (LA) and anticardiolipin antibodies (aCL) play a role in promoting arterial and venous thrombosis in several vascular territories. Acute vestibular syndromes are a common complaint in general and neurology practice. Approximately 9% of cases are due to central nervous system vestibular areas lesions, often associated with vascular disorders. OBJECTIVE: Define the potential relationship between these antibodies and central or peripheral vestibular failure. PATIENTS AND METHODS: We report the presence of antiphospholipid antibodies in 16 patients with central vestibular symptoms. All patients were seen in the Neuro otology and Vascular Neurology clinics at the Institute for Neurological Research in Buenos Aires. Magnetic resonance imaging (MRI) and ancillary neuro otologic tests were used to determine the etiology of vestibular manifestations. Determinations of LA and aCL were done using standard criteria. RESULTS: We evaluated 16 patients (13 women and 3 men), aged 44 4 years (21 65). Thirteen patients did not have stroke risk factors. MRI lesions were found in 11 subjects (1 cerebellar infarct, 3 pontine ischemic changes, and 9 white matter abnormalities). All patients had signs consistent with dysfunction of vestibulo cerebellar structures or the vestibular nuclei. All patients had positive LA and 4 of them had also elevated aCL. CONCLUSION: Our findings suggest a potential association between the presence of a prothrombotic state and central vestibular dysfunction of vascular etiology. To the best of our knowledge, this is the first report of such an association in the absence of clinically evident autoimmune disease.

Foetal and neonatal thyroid disorders.

Thyroid hormones have been shown to be absolutely necessary for early brain development. During pregnancy, both maternal and foetal thyroid hormones contribute to foetal brain development and maternal supply explains why most of the athyreotic newborns usually do not show any signs of hypothyroidism at birth. Foetal and/or neonatal hypothyroidism is a rare disorder. Its incidence, as indicated by neonatal screening, is about 1:4000. Abnormal thyroid development (i.e. agenesia, ectopic gland, hypoplasia) or inborn errors in thyroid hormone biosynthesis are the most common causes of permanent congenital hypothyroidism. Recent studies reported that mutations involving Thyroid Transcriptor Factors (TTF) such as TTF-1, TTF-2, PAX-8 play an important role in altered foetal thyroid development. Deficiency of transcriptor factor (Pit-1, Prop-1, LHX-3) both in mother and in the foetus represents another rare cause of foetal hypothyroidism. At birth clinical picture may be not always so obvious and typical signs appear only after several weeks but a delayed diagnosis could have severe consequences consisting of delayed physical and mental development. Even if substitutive therapy is promptly started some learning difficulties might still arise suggesting that intrauterine adequate levels of thyroid hormones are absolutely necessary for a normal neurological development. Placental transfer of maternal antithyroid antibodies inhibiting fetal thyroid function can cause transient hypothyroidism at birth. If the mother with thyroid autoimmune disease is also hypothyroid during pregnancy and she doesn't receive substitutive therapy, a worse neurological outcome may be expected for her foetus. Foetal and/or neonatal hyperthyroidism is a rare condition and its incidence has been estimated around 1:4000-40000, according to various authors. The most common causes are maternal thyroid autoimmune disorders, such as Graves' disease and Hashimoto's thyroiditis. Rarer non autoimmune causes recently identified are represented by TSH receptor mutations leading to constitutively activated TSH receptor. Infants born to mothers with Graves' history may develop neonatal thyrotoxicosis. Foetal/neonatal disease is due to transplacental thyrotrophin receptor stimulating antibodies (TRAb) passage. It's extremely important recognizing and treating Graves' disease in mothers as soon as possible, because a thyrotoxic state may have adverse effects on the outcome of pregnancy and both on the foetus and newborn. Thyrotoxic foetuses may develop goitre, tachycardia, hydrops associated with heart failure, growth retardation, craniosynostosis, increased foetal motility and accelerated bone maturation. Neonatal Graves' disease tends to resolve spontaneously within 3-12 weeks as maternal thyroid stimulating immunoglobulins are cleared from the circulation but subsequent development may be impaired by perceptual motor difficulties. Hashimoto's thyroiditis is a very common autoimmune thyroid disease. In presence of maternal Hashimoto's thyroiditis, there are usually no consequences on foetal thyroid, even if antiTPO and antiTg antibodies can be found in the newborn due to transplacental passage. However there are some literature reports describing foetal and neonatal hyperthyroidism in the affected mothers' offspring.

Urinary aquaporin-2 excretion in nocturnal enuresis.

OBJECTIVE: To evaluate the role of the arginine vasopressin (AVP)-aquaporin-2 (AQP-2) axis in the pathogenesis of nocturnal enuresis. STUDY PARTICIPANTS: Twelve children (seven male and five female), aged 11.6+/-4.3 (6.7-15.6) years, suffering from primary monosymptomatic nocturnal enuresis and 12 healthy children, matched for sex and age. Enuretic children were further subdivided into responders and non-responders to treatment with 1-desamino-8-d-AVP (DDAVP). METHODS: Serum concentrations of AVP, and plasma and urine osmolality were measured at night (0100, 0400 and 0700 h), together with nocturnal urinary excretion of AQP-2 (2000-0800 h). Magnetic resonance imaging (MRI) of the pituitary gland was carried out to evaluate the amount of AVP stored in the posthypophysis. RESULTS: Mean AVP serum concentrations were similar in patients and controls. Urinary AQP-2 was also similar in patients and controls, but responders had a significantly lower level of AQP-2 than non-responders (P<0.005). Plasma osmolality was greater in patients than in controls (P<0.001), whereas urinary osmolality was similar in both groups. No difference in the ratio of the signal intensity of the posterior lobe of the hypophysis to that of the pons (AVP content) was found between patients and controls or between responders and non-responders. CONCLUSION: A decreased urinary excretion of AQP-2 is associated with, and seems to have a role in, nocturnal enuresis, at least in some children, and this could also explain why only some of them respond to DDAVP treatment.

Cholelithiasis in a newborn following treatment with the somatostatin analogue octreotide.

We report the case of a newborn infant affected by congenital hyperinsulinism who developed cholelithiasis associated with cholestatic jaundice following treatment with octreotide, a somatostatin analogue.

Pyridostigmine and metoclopramide do not restore the TSH response to TRH inhibited by L-thyroxine treatment in children with goiter.

To define the role of somatostatin and dopamine in TSH suppression induced by L-thyroxine, 16 children (12 F, 4 M) on suppressive doses of L-thyroxine (3-4 microg/kg/day) for endemic goiter were studied. Firstly a conventional TRH test was performed in all subjects, in order to evaluate TSH, PRL and GH (basal study). A week later a second TRH test was carried out; one hour before the test, however, group A (9 patients) was given 60 mg pyridostigmine bromide po (pyridostigmine study) and group B (7 patients) 10 mg metoclopramide po (metoclopramide study). In the basal study, TSH was suppressed in both groups and levels did not increase following TRH administration, while PRL increased significantly and GH levels remained stable. In the pyridostigmine study, TSH levels did not increase following TRH administration, while PRL and GH levels were both significantly raised. In the metoclopramide study, TSH and GH levels were not raised following TRH administration, while a significantly greater increase of PRL was observed. In conclusion, suppressive doses of L-thyroxine inhibit the TSH response to TRH, while they do not seem to affect GH and PRL secretion. Somatostatin and/or dopamine do not seem to play a significant role in the L-thyroxine-induced TSH suppression.

Psychomotor and audiological assessment of infants born to mothers with subclinical thyroid dysfunction in early pregnancy.

BACKGROUND: To investigate the frequency and the effects of various degrees of maternal thyroid dysfunction in the first trimester of pregnancy, before the onset of fetal thyroid function, on psychomotor and audiological outcome of the offspring. METHODS: In a cohort of 691 pregnant women, undergoing thyroid screening between the 8th and 10th gestational week, eight were found to have a subclinical form of hypothyroidism and one was frankly hypothyroid. Treatment with L-thyroxine was started soon after diagnosis was made. Their nine offspring had a psychomotor and audiological assessment at the age of nine months. Psychomotor development was evaluated with the Brunet-Lèzine test, while audiological function was assessed with auditory brainstem responses (ABR's). RESULTS: Psychomotor developmental quotients were not different in patients and controls (99 +/- 6 vs 101 +/- 4). Regarding ABR pattern, there were no significant differences between patients and controls. Moreover, no correlation was found between maternal fT4 and psychomotor as well as audiological outcome in the offspring. CONCLUSIONS: These findings are reassuring, since various degrees of maternal thyroid dysfunction in early pregnancy seem to have no adverse effects on the psychomotor and audiological outcome of the offspring up to nine months of age. A longer follow-up however is needed before definitive statements can be made.

Transplacental passage of anti-thyroid auto-antibodies in a pregnant woman with auto-immune thyroid disease.

We report the intra-uterine and postnatal thyroid status of a newborn, whose mother, affected with Hashimoto's thyroiditis superimposed on a previous Graves' disease, again became hyperthyroid during the third trimester of pregnancy. The mother had very high levels of anti-thyroid auto-antibodies, including TSH receptor auto-antibodies (TRAb) measured as TSH-binding inhibiting auto-antibodies (TBIAb). In order to exclude fetal thyroid dysfunction due to passive transplacental transfer of TRAb, fetal blood samples were obtained by cordocentesis at 21, 27 and 32 weeks of gestation. A transplacental transfer of TRAb was already seen at 21 weeks, but no alteration of fetal thyroid function was present at that time. In the following weeks, a rise in TRAb and circulating thyroid hormones was observed both in the fetus and mother, accompanied by overt hyperthyroidism in the mother and by growth retardation in the fetus. At birth, TRAb were shown to have stimulating activity both in the newborn and mother. This report documents the early transplacental passage of thyroid auto-antibodies and underlines the importance of close follow-up of pregnant women with auto-immune thyroid disorders.

Medium-term cardiovascular effects of high-dose growth hormone treatment in growth hormone-deficient children.

AIM: To investigate the possible cardiac morphofunctional alterations inducd by prolonged and high-dose GH therapy in a group of 14 children with isolated GH deficiency. PATIENTS AND METHODS: Patients were evaluated at phase 1, after 1.1 +/- 0.6 years of treatment with GH 0.93 +/- 0.13 U/kg/week, and at phase 2, after 5.5 +/- 2.1 years of therapy 0.89 +/- 0.11 U/kg/week. At each phase left ventricular volume, mass and systolic function were evaluated by two-dimensional guided M-mode echocardiography; left ventricular diastolic function was assessed by PW-Doppler sampling of transmitral flow. RESULTS: Phase 1: diastolic blood pressure was lower (p < 0.05) and fractional shortening was not adequate for the level of afterload (stress shortening index p < 0.05) in patients compared to controls. Phase 2: diastolic blood pressure was lower (p < 0.01) and mass and mass/volume ratio were increased (mass index p < 0.05, mass/ volume ratio p < 0.05) in patients compared to controls. The increased mass/volume ratio, together with the normal systolic blood pressure, explains the reduction in peak systolic stress (p < 0.005). Among the parameters of left ventricular diastolic function, the peak E velocity/total area under mitral valve tracing and the area under E velocity/total area under mitral value tracing ratios were significantly decreased (p < 0.05). CONCLUSION: After a mean period of 5 years on high-dose GH treatment in GH-deficient children, subclinical morphofunctional alterations in the left ventricle were found.

[Somatotropin function in term and premature newborns during the first month of life]. / Etude de l'axe somatotrope des nouveau-nés à terme et prématurés pendant le premier mois de vie.

Neonatal somatotropic function is characterized by a discrepancy between elevated growth hormone (GH) levels and low IGF I levels. This study aimed at explaining this discrepancy, particularly to examining if it could result from low GH bioactivity. Serum concentrations of bioactive GH (bio GH), GH measured by radioimmunoassay (riGH), GH binding protein (GHBP), IGF I and IGF binding proteins (IGFBP) were determined in 27 premature and term newborns during the first month of life. At day 4, riGH and bio GH concentrations were elevated in both premature and term newborns as compared with normal prepubertal children; GHBP and IGF I levels were low, with a positive correlation with gestational age (P < 0.001). There was a positive correlation between GHBP and IGF I levels. IGFBP-1 and IGFBP-2 levels were elevated and negatively correlated with gestational age (P < 0.005). IGFBP-3 levels were within the range of prepubertal children values and positively correlated with gestational age (P < 0.005). During the first month, riGH and bio GH levels decreased in all infants, while IGFI levels increased in premature infants only, and GHBP levels in term infants only. The elevated levels of bio GH during the first days of life appear to be related to the low levels of IGF I due to a reduced number or function of GH receptors. In premature infants the decrease in GH levels observed afterwards appears to be secondary to the increase in IGF I levels. In term infants, in the absence of increase in IGFI levels other(s) factor(s) seem(s) to be involved.

Age-related variation in left ventricular myocardial contractile state expressed by the stress velocity relation.

The assessment of ventricular function plays an important role in the pre- and postoperative management of many congenital heart abnormalities. Normal ranges in left ventricular systolic function indices have been defined during childhood and age-related alterations in left ventricular myocardial contractile state have recently been reported. This study was carried out to investigate the developmental changes in left ventricular contractile state expressed by the endsystolic meridional stress (ESS)/rate-corrected velocity of circumferential fiber shortening (VCFc) relation, calculated by echo in normal children and young adults. We examined 146 healthy subjects (80 males and 66 females), mean age 70.85 +/- 63.89 months (range 0.5-228) and body surface area (BSA) 0.807 +/- 0. 47 (range 0.18-2.01) with no clinical and echocardiographic evidence of cardiac disease and with normal blood pressure. The subjects were divided into three groups according to age: <6 months (group 1, n = 32), 6-36 months (group 2, n = 34), and >36 months (group 3, n = 80). Enddiastolic volume and mass (M) of the left ventricle were measured by M-mode Echo. ESS was considered as an index of afterload and the VCFc as an index of systolic ventricular function. The left ventricular ejection time used for the calculation of VCFc was measured from aortic flow obtained by PW-Doppler. The ESS/VCFc relation was used to assess left ventricular contractility. Systolic blood pressure, volume, and mass of the left ventricle increase with age. The gradual increase in pressure despite a stable mass/volume ratio [M/V = 0.900 + (0.0007 x age); r = 0.27, p < 0.005] resulted in a substantial increase of afterload [ESS = 29.78 + (0.116 x age); r = 0.58, p < 0.0001]. VCFc showed an inverse hyperbolic regression with afterload [VCFc = 1.01 + (7.598/ESS); r = 0.59, p < 0.0001]. The regression lines (best linear fit) between VCFc and ESS are significantly different in the three groups. The Y intercept was higher and the slope steeper in group 1 [VCFc = 1.74 - (0.017 x ESS); r = 0.65, p < 0.0005] vs group 2 [VCFc = 1.54 - (0.008 x ESS); r = 0.58, p < 0.001] and group 3 [VCFc = 1.52 - (0.007 x ESS); r = 0.57, p < 0.0001]. These data indicate that, in children, the volume and mass of the left ventricle increase, whereas the M/V ratio remains relatively constant; the progressive increase in arterial blood pressure explains the increase of afterload. The VCFc is higher in the first few years of life compared to that seen in older children due to reduced afterload and increased contractile state. Left ventricular contractility, expressed as ESS/VCFc relation, is thus inversely proportional to age. In the first months of life the left ventricular myocardium exhibits a higher basal contractile state and a greater sensitivity to changes in afterload. For obtaining an accurate assessment of left ventricular function, the ESS/VCFc relation in different age groups should be measured.

[Developmental changes of cardiac mechanics during fetal and postnatal life. Diagnostic role of Doppler echocardiography]. / Modificazioni evolutive della meccanica cardiaca durante la vita fetale e postnatale. Ruolo diagnostico dell'eco-Doppler.

The advent of fetal echocardiography combined with Doppler technology gave the clinicians the possibility to evaluate and clarify the main aspects of fetal and postnatal circulatory physiology. From the end of cardiogenesis to the end of gestation the developmental changes of the fetal myocardial structure, ventricular function and circulatory physiology have all been studied. Also the physiological features of the transitional circulation in the first postnatal period, as well as the developmental changes in the morphology and function of the neonatal ventricles can be assessed by Doppler echocardiography. This review is divided in two parts. In the first one we will briefly discuss the contractile properties of the fetal myocardium, the cardiac performance and dynamics of the fetal circulation; in the second one we will consider the physiological aspects of the transitional circulation, the structural features of the immature neonatal myocardium, as well as the developmental changes of the myocardial mechanics as shown by Doppler ultrasound.

Echocardiographic evaluation of systolic and diastolic left ventricular function following arterial switch operation in the neonatal period for transposition of the great arteries. Midterm results.

BACKGROUND: Neonatal arterial one-stage switch operation (ASO) for transposition of the great arteries (TGA) is currently the procedure of choice for TGA. There is a potential risk of myocardial damage related to coronary artery reimplantation and sudden pressure overload imposed on the left ventricle after discontinuation of the cardiopulmonary bypass. OBJECTIVES: This study was carried out in order to evaluate left ventricular systolic and diastolic function in children following ASO. METHODS: We studied 32 children (22 M, 10 F), mean age 23.7 +/- 24.6 months (range 0.5-97.2) following ASO, without any hemodynamically significant residual stenosis by 2D- and Doppler-echocardiography. Twenty-five had TGA with intact ventricular septum and 7 with ventricular septal defect. Mean age at time of one-stage repair was 8.9 +/- 6.9 days (range 2-30) and the mean time of follow-up 23.5 +/- 24.6 months (range 0.3-96). At the time of evaluation all the children were asymptomatic. Regional wall motion of the left ventricle was assessed by 2D-echo. Volumes, mass index, M/V ratio, afterload, systolic function (FS% and VCFc), contractility (stress-velocity SVI and stress-shortening SSI relations) and preload (functional preload index FPI = SSI-SVI) of the left ventricle were determined by m-mode echo together with non-invasive blood pressure monitoring. Left ventricular diastolic function was determined by PW Doppler of transmitral flow. All parameters were compared with those of 32 normal controls matched for age, sex and body surface area. RESULTS: Left ventricular regional wall motion was normal in all but 5 cases who showed a slight reduction of the septal systolic motion. Volumes and EF% did not differ in post-ASO group vs controls. There was a small increase of the mass index in the post-ASO group vs controls (62.8 +/- 14.1 vs 56.2 +/- 6.5 g/m2; p = 0.02) and the M/V ratio did not differ. FS% and VCFc were not different between the 2 groups. Peak and end-systolic meridional stress also did not differ in the 2 groups. A normal contractile state was present in the post-ASO group. The preload was slightly reduced in the post-ASO children (FPI -0.6 +/- 0.94 vs 0.07 +/- 0.63; p = 0.001). Parameters of left ventricular diastolic function were not significantly different between the 2 groups. CONCLUSIONS: In conclusion in children undergoing neonatal ASO for TGA with intact septum or ventricular septal defect, evaluated after a mean post-surgical follow-up of 2 years, systolic and diastolic performance of the left ventricle was normal. Regional wall motion abnormalities with slightly reduced septal motion were detected in 5 cases. The reason for the small increase in mass index is unknown. The slight reduction of the preload is related to the routine drug therapy in the patients studied early after surgical repair.