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Biomedical subjects

A Tartaglione

Publications and source records attributed to A Tartaglione.

At least 19 recordsLinked to original sources
PubMed2004

The role of tissue harmonic imaging in fetal echocardiography.

OBJECTIVE: To define the role of tissue harmonic imaging (THI) in fetal echocardiography. METHOD: Three trials were conducted in a tertiary referral center: Study A was a prospective randomized trial including 50 women referred for fetal echocardiography. Those allocated to Arm 1 underwent conventional fundamental frequency ultrasound (FFU) and those allocated to Arm 2 underwent THI. Study B was conducted in 21 patients who were obese or overweight with significant weight gain in pregnancy. In these patients, both THI and FFU echocardiography were performed and compared. In Study C, THI was employed as a second-line rescue technique in cases of inadequate or incomplete examination by FFU. A subjective scoring system was used by a reviewer who had not performed the examinations to assess the comprehensiveness of the examination and the image resolution. The reviewer was blinded to the image modality. RESULTS: In Study A, no difference was found in the diagnostic accuracy between THI and FFU echocardiography but the resolution was significantly poorer in the THI arm. In studies B and C, THI performed significantly better than FFU (P < 0.001). CONCLUSIONS: THI echocardiography seems to be the best technique to employ in obese women and in those in whom FFU fails to provide diagnostic information. However, due its poorer resolution in women of average weight, FFU echocardiography should remain the technique of choice.

Echocardiography↗
PubMed2003

Prenatal ultrasound diagnosis of Nager syndrome.

Nager syndrome, or acrofacial dysostosis, is a rare malformation complex characterized by facial anomalies (external ear abnormalities and micrognathia) and limb defects (radial hypoplasia and absence of the thumb and/or other digits). Since its first description in 1948, more than 80 cases have been reported in the pediatric literature. However, there is only one previous report on the prenatal recognition of the syndrome, which was at 30 weeks of gestation. We report here a further case of Nager syndrome, prospectively diagnosed at 23 weeks of gestation.

Abortion, Induced↗
PubMed2002

Ultrasound evaluation of aortic valve anatomy in the fetus.

OBJECTIVE: To assess the feasibility of ultrasound identification of aortic valve anatomy in the fetus, with particular emphasis on the detection of bicuspid aortic valve. METHODS: This study was a prospective analysis of 21 fetuses with prenatally diagnosed congenital left heart obstructive lesions and 45 normal fetuses undergoing routine ultrasound evaluated at a tertiary referral center. These fetuses underwent detailed echocardiography, including the study of the aortic valve on a targeted short-axis view of the right ventricle. Necropsies or postnatal echocardiograms were available for confirmation of the diagnosis in all cases. RESULTS: Aortic cusps and commissures were satisfactorily visualized in 38/45 (84%) normal fetuses and in 18/21 (86%) fetuses with congenital heart disease. The aortic valve was correctly defined as bicuspid in one normal fetus and in six fetuses with congenital heart disease. In two fetuses with a positive family history, the bicuspid aortic valve was isolated. There was one incorrect diagnosis (a unicuspid unicommissural valve diagnosed prenatally as a bicuspid aortic valve in a fetus with severe aortic stenosis) and one false-positive diagnosis in a fetus diagnosed with a coarctation and a bicuspid aortic valve late in the third trimester of pregnancy and in which both anomalies were not confirmed at neonatal echocardiography. CONCLUSIONS: This study demonstrated that aortic valve anatomy can be satisfactorily assessed in fetuses with and without left heart obstructive lesions. We believe that a detailed search for a bicuspid aortic valve should be attempted in all patients referred for a positive family history of congenital heart disease, in general, and of left ventricle outflow tract obstruction or bicuspid aortic valve, in particular. In fact, the presence of an asymptomatic bicuspid aortic valve has been demonstrated to represent an important factor predisposing to the development of bacterial endocarditis and dissecting aortic aneurysm late in adult life. Therefore, an early detection of such an anomaly may contribute to ensure a longer symptom-free lifespan of individuals with the most common cardiac anomaly at birth.

Aortic Coarctation↗
PubMed2001

Pena-Shokeir phenotype with variable onset in three consecutive pregnancies.

The Pena-Shokeir phenotype represents an autosomal recessive syndrome characterized by neurogenic arthrogryposis, facial anomalies and pulmonary hypoplasia. Prenatal diagnosis of this disease has been reported prospectively and in cases with positive family history. We describe here a patient who has had three consecutive pregnancies affected by the Pena-Shokeir syndrome. In these pregnancies, the onset of the arthrogryposis varied between the 12th and the 18th week of gestation. Therefore, the possibility of a variable chronological development of the main diagnostic feature of the syndrome, arthrogryposis, has to be taken into proper consideration while counseling families with a positive history for the Pena-Shokeir phenotype.

Adult↗
PubMed2000

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.

Autosomal dominant hereditary spastic paraplegia (AD-HSP) is a group of genetically heterogeneous neurodegenerative disorders characterized by pro- gressive spasticity of the lower limbs. Five AD-HSP loci have been mapped to chromosomes 14q, 2p, 15q, 8q and 12q. The SPG4 locus at 2p21-p22 has been shown to account for approximately 40% of all AD-HSP families. SPG4 encoding spastin, a putative nuclear AAA protein, has recently been identified. Here, sequence analysis of the 17 exons of SPG4 in 87 unrelated AD-HSP patients has resulted in the detection of 34 novel mutations. These SPG4 mutations are scattered along the coding region of the gene and include all types of DNA modification including missense (28%), nonsense (15%) and splice site point (26.5%) mutations as well as deletions (23%) and insertions (7.5%). The clinical analysis of the 238 mutation carriers revealed a high proportion of both asymptomatic carriers (14/238) and patients unaware of symptoms (45/238), and permitted the redefinition of this frequent form of AD-HSP.

Adenosine Triphosphatases↗
PubMed2000

The association between congenital heart disease and Down syndrome in prenatal life.

OBJECTIVE: To assess the relationship between congenital heart disease (CHD) and Down syndrome (DS) in utero. DESIGN: Retrospective case series. SUBJECTS: Fifty-two fetuses with a cytogenetic diagnosis of DS managed at our Fetal Cardiology Unit in the study period. In particular, two populations of fetuses with DS were studied: a group of 41 DS fetuses referred to our unit for fetal echocardiography due to the chromosomal anomaly and a second group of 274 fetuses referred because of suspected CHD, 11 of which were found to have DS. METHODS: All fetuses were submitted to detailed ultrasound evaluation of fetal anatomy. Associated extracardiac anomalies, and presence and type of CHD, were recorded for all fetuses. Karyotyping was obtained by means of cordocentesis or amniocentesis. Necropsy or neonatal echocardiograms were sought for confirmation of the prenatal diagnosis. RESULTS: In the group of 41 fetuses with known DS, the incidence of CHD was 56% ([atrioventricular septal defect (AVSD) 44%, ventricular septal defect (VSD) 48%], the remainder having other heart defects). Conversely, considering the incidence of DS in fetuses with CHD, 43% of all AVSDs (53% of AVSD with normal visceral situs) were associated with DS, whereas none of the 39 cases of VSD was associated with trisomy 21. Ventricular septal defects were diagnosed only in fetuses referred to our center with a known diagnosis of aneuploidy. CONCLUSIONS: We have confined that more than half of the fetuses with DS bear a CHD, which is an AVSD in 44% of cases. Conversely, 43% of fetuses with an AVSD have trisomy 21. For VSDS, the situation is controversial, due to the relatively low detection level of this heart defect at the routine mid-trimester obstetric scan.

Abnormalities, Multiple↗
PubMed2000

Tissue Doppler imaging of the fetal heart.

OBJECTIVES: The objectives of this study were: (i) to assess the feasibility of a tissue Doppler imaging (TDI) evaluation in the fetus, (ii) to identify color-TDI patterns consistent with the various phases of the cardiac cycle; and (iii) to assess myocardial velocities and the myocardial velocity gradient. METHODS: Eighty-nine normal fetuses between the 17th and the 37th week of gestation were studied. Color-TDI was superimposed on an apical four-chamber view of the fetal heart and three cardiac cycles captured in cine-loop format. By reviewing the cine-loop strip, color patterns consistent with the various phases of the cardiac cycle were identified. The procedure was then repeated with a transverse four-chamber view. On each frame corresponding to mid-systole, early and late diastole, myocardial velocities were calculated at the subepicardial and subendocardial layer and regressed against gestational age. Statistics included correlation and regression analysis, calculation of the 95% confidence intervals and of the Cronbach's alpha reliability coefficient for repeated observations. RESULTS: TDI examination is acceptably reproducible in the fetus. We were able to identify color-TDI patterns depicting the systolic contraction wave, ventricular relaxation and atrial contraction. Statistical evaluation demonstrated that: all variables (systolic right and left subendocardial and subepicardial velocities, early diastolic right and left subendocardial and subepicardial velocities, end diastolic right and left subendocardial velocities, right subepicardial velocities) except end-diastolic right and left subepicardial velocities, showed a positive correlation with advancing gestational age; subendocardial velocities were higher than subepicardial ones throughout the cardiac cycle in both ventricles; systolic myocardial velocities were higher in the left ventricle whereas early diastolic velocities were higher in the right ventricle; and the ratio between early and late diastolic subendocardial velocities (EM/AM) was constantly < 1 and did not change with advancing gestational age. CONCLUSIONS: TDI evaluation of the fetal heart is feasible and reproducible. Color-TDI is able to identify the various phases of the cardiac cycle. Quantitative evaluation of myocardial velocities has shown also in the fetus the existence of the myocardial velocity gradient found in postnatal life.

Blood Flow Velocity↗
PubMed1999

Prenatal findings in trisomy 16q of paternal origin.

A 34-year-old pregnant woman was referred at 30 weeks of gestation with suspected fetal congenital heart disease. On prenatal ultrasound the following anomalies were detected: intra-uterine growth retardation, micrognathia, coarctation of the aorta with ventricular and atrial septal defects, ambiguous external genitalia, and clinodactyly of one hand with adducted thumb. Prenatal karyotyping was offered but refused by the patient. The fetus was delivered by Caesarean section due to fetal distress at 36 weeks of gestation. The neonate, weighing 2150 g was transferred to the neonatal intensive care unit, where he died 10 days later. The karyotype from peripheral blood lymphocytes was 46,XY+der(20)t(16;20)(q12.1;p13)pat. The maternal karyotype was unremarkable, whereas the father had the translocation t(16;20)(q12.1;p13). Necropsy confirmed all the prenatal findings. These are discussed together with the implications of the chromosomal diagnosis and the pertinent literature is reviewed.

Abnormalities, Multiple↗
PubMed1999

[Cystic adenomatoid malformation of the lung at the fetal stage. Ultrasonographic diagnosis and counseling].

BACKGROUND: The aim of this study was to report the series of cystic malformation of the lung (CAML) detected at the Center for Prenatal Diagnosis of the University of Naples Federico II and compare the data with the current literature. METHODS: In the period 1994-1997, ten cases of CAML have been detected at our unit. For each case, the following parameters were recorded: size of the cysts (according to the Stocker classification), side, presence of mediastinal shift, hydrops. For confirmation, necropsies and post natal files were sought. RESULTS: CAML was type I in 3 cases, type II in 3, and type III in 4 cases. mediastinal shift was present in 7 cases, hydrops in 2 and bilateral renal agenesis in 1. Seven cases underwent termination of pregnancy, 2 are currently alive and thriving after surgery and one pregnancy is ongoing at 36 weeks of gestation. The diagnosis was straightforward in all cases, and there were no problems of differential diagnosis. CONCLUSIONS: From an analysis of the data published in recent literature, it can be affirmed that hydrops but not mediastinal shift have negative prognostic significance. The abortion rate of 70% in our series, including 4 cases with a good prognosis, is somewhat frustrating. This figure underlines the need for a multidisciplinary counseling in which the pediatric surgeon, the psychologist and the sonographer may support the couple in overcoming the stress related to the acknowledgement of the lesion in order to reach the final decision about the outcome of the pregnancy.

Abnormalities, Multiple↗
PubMed1995

Lowering body temperature with a cooling suit as symptomatic treatment for thermosensitive multiple sclerosis patients.

A cooling system (Mark VII Microclimate System) was used to give six thermosensitive multiple sclerosis patients two 45-minute daily coolings for a period of one month. Before the first cooling, a baseline clinical and electrophysiological examination was performed. The same tests were repeated after the first application and after the thirtieth cooling day, thus providing information relating to acute and chronic efficacy. A clinical improvement was observed after both acute and, more unexpectedly, chronic cooling, whereas a significant improvement in central somatosensory conduction was recorded only under acute conditions. Our data suggest that cooling with this device leads to an improvement in some functional performances (mainly fatigue and strength) of about two hours' duration in thermosensitive patients.

Adult↗
PubMed1995

Eye closure affects flash VEP latency in dementia.

In a group of 27 demented patients (21 with DAT and 6 with MID) with normal pattern VEP (PVEP), the latencies of the main flash VEP (FVEP) components (P1, N2, P2 and N3) were assessed both with open and closed eyes. At variance from controls, demented patients showed that both P2 and N3 components are significantly delayed with closed eyes while neither P1 nor N2 timings are affected. Control studies ruled out the possibility that such an outcome might depend on a defective pupillary responsiveness and/or an impaired sensitivity to luminance changes. On these grounds it is suggested that the effect of mode of stimulation on FVEP latency in demented patients is more likely to depend on "central" than on "peripheral" mechanisms. The dependence of latency changes on closure of the eyes seems to negate the direct effect of lesions upon visual structures and suggests an impairment of the modulatory action of non-visual afferents upon the activity of the visual cortex.

Aged↗
PubMed1991

Hemisphere asymmetry in decision making abilities. An experimental study in unilateral brain damage.

Thirty control subjects and 60 unilateral brain-damaged patients, 30 with left hemisphere (LH) damage and 30 with right hemisphere (RH) disease, underwent a disjunctive 4-choice reaction time study. Speed of reaction (as defined by the reciprocal of reaction time (RT), movement time (MT) and total response time (TRT] and accuracy of response (as represented by the sum of errors in selecting the correct response key) were investigated comparatively as a function of side of lesion and of performance on Raven's Coloured Progressive Matrices (PM47). In contrast to movement speed (1/MT), reaction speed (1/RT) as well as total response speed (1/TRT) showed a lesion effect independent of side of damage. Conversely, accuracy was differentially impaired, LH damage being associated with a significantly higher number of errors. Speed and accuracy had different relationships with the performance on the PM47 in the two hemisphere groups. Speed was affected in parallel with changes in PM47 performance both in the LH and in RH groups, whereas accuracy was altered only in LH patients. It was concluded that speed of motor reaction is affected by unilateral brain lesions irrespective of their side, whereas decision making processes, as expressed by accuracy of response, seem to be specifically impaired by LH damage.

Attention↗
PubMed1987

Further evidence for focal effect of right hemisphere damage on simple reaction time.

Changes of simple visual reaction time were analyzed in two groups of unilateral brain damaged patients in order to evaluate to what extent intrahemispheric localization of lesions affects performance. Possible interactions with size were avoided by selecting a localization criterion, i.e. the median section of lesion, uncorrelated with size of damage. By preliminarly establishing that the distribution of lesions in our hemispheric groups did not differ, we were enabled to confirm that intrahemispheric localization of damage has a different bearing on performance depending on side of lesion. In the right hemisphere group slower performances were generally associated with frontal damage whereas in the left hemisphere group localization did not influence the performance. The use of independent indexes for size and locus of lesion proved the existence of an interaction between these parameters in the right hemisphere group.

Brain Damage, Chronic↗
PubMed1987

Electrophysiological detection of "silent" plaques in the optic pathways.

The incidence of a delayed P100 component of the VEP after checkerboard stimulation in probable or possible multiple sclerosis (MS) without history, signs or symptoms of optic neuritis is not significantly different from that found in other neurological disorders in which the visual system is unaffected. This reduces the diagnostic validity of a delayed P100 as evidence of "silent" plaques in the optic pathway, at least in suspected MS. The use of grating increases the VEP sensitivity in the MS group, but it still leaves more than a 30% chance of error in attributing a delayed P100 to a demyelinating disorder. In this respect the discordant behaviour of checkerboard and grating responses may represent a useful clue.

Adult↗
PubMed1986

Simple reaction-time changes in patients with unilateral brain damage.

Changes of simple visual reaction time were analysed in two groups of unilateral brain-damaged patients in order to evaluate to what extent properties of lesions, clinical parameters and experimental variables might influence speed of motor response. The results confirmed that brain damage, independent of its side, produces a retardation of speed. However, the two hemispheric groups differed in so far as volume of damage had a different bearing depending on side of lesion. In spite of such a difference the presence of a general interaction between size of damage and rate of progression of lesion was noted in both the hemispheres, reminiscent of Jackson's concept of 'lesion momentum'. Aphasia was related to a significant retardation of speed in left-hemisphere-diseased patients, although a specific effect of the disturbance of language could not be demonstrated. Experimental variables such as warned vs unwarned stimulation did not affect significantly the performance of brain-damaged patients.

Aged↗
PubMed1984

VEP changes in Parkinson's disease are stimulus dependent.

Two stimulus configurations (gratings and checkerboards) have been presented to a series of consecutive patients with the aim of exploring VEP changes in Parkinson's disease. The outcome turned out to be quite different according to the stimulus employed. Specifically, grating pattern produced a high diagnostic yield as opposite to checkerboard, which did not reveal substantial modifications of the latency of the VEP major positive peak with respect to a control group. This finding raises problems as to the characteristics of visual changes associated with Parkinson's disease.

Aged↗