Approche clinique comparée des représentations parentales chez l’enfant souffrant de mucoviscidose, à l’aide du test Patte Noire de L. Corman

L'auteur propose, à travers une approche comparée des remaniements psychiques et familiaux, d’étudier les rapports qui s’établissent entre l’hérédité, le milieu et le développement de la personnalité à propos de treize enfants souffrant de mucoviscidose. L'analyse comparée des résultats obtenus au test projectif Patte Noire de L. Corman suggère que les enfants atteints de mucoviscidose présentent un mode de fonctionnement prégénital, corrélativement à l’élaboration des imagos parentales représentées comme couple, bien qu’inversées dans leur identité sexuée. Cette dernière analyse relative au complexe d’Œdipe fera l’objet d’une nouvelle conceptualisation théorique développée sous l’intitulé d’«image parentale androgyne ».Ruhland José, Beltramo Françoise, Marçon François, Vidailhet Colette, Vidailhet Michel. Approche clinique comparée des représentations parentales chez l’enfant souffrant de mucoviscidose, à l’aide du test Patte Noire de L. Corman. In: Bulletin de psychologie, tome 56 n°465, 2003. pp. 383-391

Testicular microlithiasis and testicular tumor: a review of the literature

International audienceIntroduction: There are numerous scientific publications on testicular microlithiasis (TML) detected during ultrasound (US) examination. We wished to update the data.Methods: PubMed was used to identify original articles published between 1998 and May 2017 describing the association between TML and testicular tumor. Studies were only included if TML was diagnosed by US. Studies were then classified into subgroups according to the following criteria: asymptomatic, symptomatic, infertility, cryptorchidism, family or personal history of testicular cancer, and “no given reason for US”. A Z-Test was used to identify differences within these subgroups. In addition, we identified prospective cohorts of TML patients. Numbers, duration of follow-up, and occurrence of the “testicular tumor” event were recorded for each of them.Results: One hundred and seventy-five articles were identified, 40 of which were included. Our review has not showed a clear evidence that cryptorchidism associated with TML is a risk factor for testicular tumor. However, there seems to be a correlation between infertility associated with TML and a higher tumor risk. There were not enough studies to confirm a relationship between family or personal history associated with TML and the tumor risk. There was also a correlation with a higher tumor risk for symptomatic associated with TML and “no given reason for US” plus TML groups. However, these groups are assumed to contain bias and caution must be taken regarding conclusions. Regarding the prospective cohort studies, 16 testicular tumors appeared in the follow-up of patients with TML, 13 patients had risk factors.Conclusion: In cases of TML incidental finding by US with the presence of risk factors (personal history of testicular cancer, testicular atrophy, infertility, cryptorchidism) a consultation with a specialist should be considered. In the absence of risk factors, the occurrence of testicular cancer in patients with TML is similar to the risk of the general population

Evolution of Clinical and Electrophysiological Data in Children with a Preexcitation Syndrome

International audienceBackground: With ablation, the follow-up of preexcitation syndrome now is difficult to assess. The purpose was to collect data of children with a preexcitation syndrome studied on two separate occasions within a minimal interval of 1 year.Methods: This is a retrospective chart review of 47 children initially aged 12 ± 4 years, who underwent two or more invasive electrophysiological studies (EPS) within 1-25 years of one another (6.3 ± 4.8) for occurrence of symptoms or new evaluation.Results: Among initially symptomatic children (n = 25), four (19%) became asymptomatic and one presented life-threatening arrhythmia. Among asymptomatic children (n = 22), five became symptomatic (22.7%). Anterograde conduction disappeared in seven of 23 children with initially long accessory pathway-effective refractory period, but four of six had still induced atrioventricular reentrant tachycardia (AVRT). AVRT was induced at second EPS in three of 13 asymptomatic preexcitation syndrome with negative initial EPS. There were no spontaneous adverse events in the five children with criteria of malignancy at initial EPS; signs of malignancy disappeared in two. At multivariate analysis, AVRT at initial EPS was the only independent factor of symptomatic AVRT during follow-up. Absence of induced AVRT at initial EPS was the only factor of absence of symptoms and a negative study at the second EPS.Conclusions: There were no significant changes of data in children after 6.3 ± 4.8 years of follow-up. Most children with spontaneous/inducible AVRTs at initial EPS had still inducible AVRT at second EPS. Induced AF conducted with high rate has a relatively low prognostic value for the prediction of adverse events

Age-related location of manifest accessory pathway and clinical consequences

International audienceBackground: Accessory pathway (AP) ablation is not always easy. Our purpose was to assess the age-related prevalence of AP location, electrophysiological and prognostic data according to this location.Methods: Electrophysiologic study (EPS) was performed in 994 patients for a pre-excitation syndrome. AP location was determined on a 12 lead ECG during atrial pacing at maximal preexcitation and confirmed at intracardiac EPS in 494 patients.Results: AP location was classified as anteroseptal (AS)(96), right lateral (RL)(54), posteroseptal (PS)(459), left lateral (LL)(363), nodoventricular (NV)(22). Patients with ASAP or RLAP were younger than patients with another AP location. Poorly-tolerated arrhythmias were more frequent in patients with LLAP than in other patients (0.009 for ASAP, 0.0037 for RLAP, <0.0001 for PSAP). Maximal rate conducted over AP was significantly slower in patients with ASAP and RLAP than in other patients. Malignant forms at EPS were more frequent in patients with LLAP than in patients with ASAP (0.002) or PSAP (0.001). Similar data were noted when AP location was confirmed at intracardiac EPS. Among untreated patients, poorly-tolerated arrhythmia occurred in patients with LLAP (3) or PSAP (6). Failures of ablation were more frequent for AS or RL AP than for LL or PS AP.Conclusions: AS and RLAP location in pre-excitation syndrome was more frequent in young patients. Maximal rate conducted over AP was lower than in other locations. Absence of poorly-tolerated arrhythmias during follow-up and higher risk of ablation failure should be taken into account for indications of AP ablation in children with few symptoms

A systematic variant screening in familial cases of congenital heart defects demonstrates the usefulness of molecular genetics in this field

International audienceThe etiology of congenital heart defect (CHD) combines environmental and genetic factors. So far, there were studies reporting on the screening of a single gene on unselected CHD or on familial cases selected for specific CHD types. Our goal was to systematically screen a proband of familial cases of CHD on a set of genetic tests to evaluate the prevalence of disease-causing variant identification. A systematic screening of GATA4, NKX2-5, ZIC3 and Multiplex ligation-dependent probe amplification (MLPA) P311 Kit was setup on the proband of 154 families with at least two cases of non-syndromic CHD. Additionally, ELN screening was performed on families with supravalvular arterial stenosis. Twenty-two variants were found, but segregation analysis confirmed unambiguously the causality of 16 variants: GATA4 (1 x), NKX2-5 (6 x), ZIC3 (3 x), MLPA (2 x) and ELN (4 x). Therefore, this approach was able to identify the causal variant in 10.4% of familial CHD cases. This study demonstrated the existence of a de novo variant even in familial CHD cases and the impact of CHD variants on adult cardiac condition even in the absence of CHD. This study showed that the systematic screening of genetic factors is useful in familial CHD cases with up to 10.4% elucidated cases. When successful, it drastically improved genetic counseling by discovering unaffected variant carriers who are at risk of transmitting their variant and are also exposed to develop cardiac complications during adulthood thus prompting long-term cardiac follow-up. This study provides an important baseline at dawning of the next-generation sequencing era

Age-Related Prognosis of Syncope Associated with a Preexcitation Syndrome

International audienceBACKGROUND:Syncope in Wolff-Parkinson-White syndrome (WPW) is without relationship with WPW or reveals a poorly tolerated arrhythmia. Electrophysiologic study (EPS) is recommended. The purpose of the study was to evaluate the influence of the patient's age on the causes and prognosis of syncope.METHODS:A total of 98 patients, mean age 35 ± 18 years, with WPW were admitted for syncope. Note that 29 were aged between 9 and 19 years (mean 15 ± 3) (children and teenagers/group I), 45 between 20 and 49 years (mean 34 ± 8) (adults/group II), and 24 between 50 and 70 years (mean 60 ± 8) (elderly/group III). EPS consisted of atrial pacing and programmed atrial stimulation in control state and after isoproterenol.RESULTS:Potentially malignant form (rapid conduction in accessory pathway >240 beats/min in control state or >300 beats/min after isoproterenol and atrial fibrillation [AF] induction) was more frequent in group I (34%) than in groups II (7%) (P < 0.002) and III (0%) (P < 0.001). Orthodromic atrioventricular reentrant tachycardia (AVRT) and AF were induced as frequently in groups I (59, 34%), II (47, 15.5%), and III (54, 17%). AVRT was induced in all but one patient with malignant form. EPS was as frequently negative in groups I (27.5%), II (44%), and III (37.5%). Natural follow-up (mean 8 ± 6 years) indicated a favorable prognosis, only related to AVRT induction. Induced AF was without significance.CONCLUSIONS:Data in syncope and WPW syndrome depended on age: electrophysiological malignant form was frequent in children/teenagers, rare in adults, and absent in elderly. AVRT, the main cause of syncope, was as frequent in all ranges of age. AF's induction alone had no significance. Final prognosis was favorable