[The myth of virgin cleansing: Latest news on an archaic magico-religious practice]. / Le mythe du nettoyage par les vierges : actualité d'un archaïsme magico-religieux.

BACKGROUND: In the medical anthropology section of the Nanterre Hospital (France) for migrants and refugees, three cases were recorded of "virgin cleansing" in sub-Saharan African countries. PATIENTS AND METHODS: These consisted of sexual assaults (2 instances of rape and 1 of sexual interference) on sexually immature females (young girls) by patients with sexually transmitted infections (mainly HIV, syphilis) hoping they might thereby be cured. DISCUSSION: These particularly atrocious hetero-aggressive sexual practices based on magical arguments are unfortunately universal and are not limited to a specific culture. At the medical anthropology level, the belief in cleansing by virgins is based on the notion that the patient is dirty and impure. In the same way that emetics and/or laxatives are prescribed in the case of intestinal disorders (to "eliminate" the disease), some subjects use diuretics for urinary abnormalities or, literally, "clean vaginas (or anuses)" to purge their own miasma. The rising tide of population migrations (some of whom carry chronic infections), refugee camps, prolonged incarcerations, etc., makes observations of such phenomena increasingly frequent. Belief in cleansing by virgins (and the fatal consequences thereof) will be difficult to eradicate. The education of populations and health professionals should promote absolute respect for the body of children, and, more generally, of others, particularly since at this time of increasingly marked migratory flows, this problem sadly risks becoming widespread.

["Palimpsest scar" lesions in a context of torture (Darfur, Sudan)]. / Cicatrices « palimpsestes ¼ en contexte de torture (Darfour, Soudan).

BACKGROUND: As a result of the current exponentially growing refugee population from the Middle-East and East Africa (Sudan, Darfur, Eritrea), clinicians (including forensic pathologists) are seeing atypical skin lesions, mainly of a traumatic nature, but in some cases associated with long-standing lesions related to ethnic practices. PATIENTS AND METHODS: A case of torture sequelae is presented herein in a patient originally from Darfur (Sudan): cutaneous incisions were made on old scars several times using a knife. DISCUSSION: The clinical presentation of scarification lesions and that of atypically healed wounds (presumably an effect of inflammation induced by the introduction of irritating foreign bodies such as sand, salt, etc.) are completely different: in all cases they indicate a relative timeframe of the facts, which the clinician should not overlook in reconstructing the patient's course and the injuries to which he has been subjected (hence the proposed designation of "palimpsest scar", in the sense that a palimpsest is a manuscript on a parchment that previously contained writing but has been scratched clean to be overwritten). Thus, a "palimpsest scar" constitutes a fresh scar on top of and hiding another (ritual) scar in a context of ethnic cleansing. The diagnostic and clinical significance comes from the importance of differentiating between ethnic-type lesions and those induced by physical violence and abuse in a context of war.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability.

The association of marfanoid habitus (MH) and intellectual disability (ID) has been reported in the literature, with overlapping presentations and genetic heterogeneity. A hundred patients (71 males and 29 females) with a MH and ID were recruited. Custom-designed 244K array-CGH (Agilent®; Agilent Technologies Inc., Santa Clara, CA) and MED12, ZDHHC9, UPF3B, FBN1, TGFBR1 and TGFBR2 sequencing analyses were performed. Eighty patients could be classified as isolated MH and ID: 12 chromosomal imbalances, 1 FBN1 mutation and 1 possibly pathogenic MED12 mutation were found (17%). Twenty patients could be classified as ID with other extra-skeletal features of the Marfan syndrome (MFS) spectrum: 4 pathogenic FBN1 mutations and 4 chromosomal imbalances were found (2 patients with both FBN1 mutation and chromosomal rearrangement) (29%). These results suggest either that there are more loci with genes yet to be discovered or that MH can also be a relatively non-specific feature of patients with ID. The search for aortic complications is mandatory even if MH is associated with ID since FBN1 mutations or rearrangements were found in some patients. The excess of males is in favour of the involvement of other X-linked genes. Although it was impossible to make a diagnosis in 80% of patients, these results will improve genetic counselling in families.

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

OBJECTIVES: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with manifestations mainly involving the skeletal, ocular, and cardiovascular systems. The phenotypic variability observed in MFS makes genetic counselling difficult. Prenatal diagnosis (PND) and preimplantation genetic diagnosis are technically feasible when a causal mutation is identified, but both raise many ethical questions in this condition. Little is known about opinions and practices in such reproductive issues in MFS. The goal of this study was to report on patients' points of view and geneticists' standard practices. METHODS: Two different questionnaires were produced. RESULTS: Fifty geneticists filled in the questionnaire. Twenty-two per cent thought that PND was acceptable, 72% debatable and 6% not acceptable. Preimplantation genetic diagnosis was more often reported acceptable (34% of answers). Results varied according to the physician's experience with the disease. Fifty-four answers were collected for patients' questionnaires. Most of them (74%) were favourable to the development of prenatal testing, and believed that the choice should be given to parents. However, only a minority would opt for prenatal diagnosis for themselves. CONCLUSION: This study showed that the majority of patients were in favour of PND and that opinions among practitioners varied widely, but that overall, practitioners favoured a systematic multidisciplinary evaluation of the couple's request.

Impact of COVID-19 disease on clinical research in pediatric and congenital cardiology.

BACKGROUND: COVID-19 triggered an unprecedented crisis affecting society at every level. Research in pediatric and congenital cardiology is currently in full development and may have been disrupted. The aim of the study was to determine the impact of COVID-19 on pediatric and congenital cardiology clinical research and to analyze decision-making and adaptation processes, from a panel of ongoing academic and industry-sponsored research at the time of the pandemic. METHODS: This observational study was carried out in April 2020, from a CHD clinical research network involving five tertiary care pediatric and congenital cardiology centers. Investigators and clinical research assistants from each participating research center completed an online survey questionnaire, and each principal investigator underwent a 1-h web-based videoconference interview. RESULTS: A total of 34 study questionnaires were collected, reporting that 18 studies were totally suspended. Upon the investigator's decision, after discussion on ethical issues and with facilitating support from health authorities, 16 studies were resumed. The rate of study suspension in interventional research (53%) was similar to that in non-interventional research (56%). Logistical problems were predominantly reported in both continued and suspended trials. Research protocols were adapted, largely thanks to telemedicine, which in some cases even improved the course of the study. CONCLUSION: The impact of the COVID-19 pandemic on clinical research in pediatric and congenital cardiology has been limited by a rapid adaptation of all research structures and an extensive use of telemedicine at all stages of the studies.

Sudden death by arrythmia in a 4-year-old boy.

Cardiac arrhythmia with sudden death is rare in children but mainly due to ventricular tachycardia. In case of pulseless ventricular tachycardia, prehospital treatment is crucial with immediate cardiopulmonary resuscitation and external electrical cardioversion. We report the case of pulseless ventricular tachycardia in a child with no past medical history. Sinus rhythm was obtained after 12min of cardiorespiratory resuscitation and three external electrical shocks. An exhaustive diagnostic approach allow us to find its origin. The clinical progression was marked by a severe encephalopathy. The authors discuss different etiologies and treatment of arrhythmia in children, reviewing the pediatric algorithm for shockable rhythm.

[Evaluation of left ventricular diastolic function in children by doppler tissue imaging]. / Evaluation de la fonction diastolique par Doppler tissulaire chez l'enfant.

Left ventricular diastolic function may change at an early stage in cardiac disease. It is often difficult to assess in daily practice. The use of Doppler tissue imaging at the annulus has been validated in adults. This method is little used in paediatrics and the physiological norms have not been established in children. Forty three children aged 7 days to 241 months were referred for a cardiological opinion with normal echocardiogrammes were included. Myocardial velocities were measured by Doppler tissue imaging of the left and right ventricular walls at different moments of the cardiac cycle in the apical 4-chamber view. A complete study was possible in 39 cases (91%). Doppler tissue imaging was not performed in one case and was incomplete on the right ventricle in 3 children. The median of the lateral mitral tissue E wave (Ea) was 16.3 cm/s and that of the right ventricle was 15.8 cm/s with a tissue Ea/Aa ratio of 2.6 and 1.6 respectively. The median of the tissue S waves was 8.8 cm/s for the left ventricular lateral wall and 13.3 cm/s for the right ventricular lateral wall. The E/Ea ratio of the left ventricular lateral wall was 5.9. Although the velocities of the left ventricular lateral wall were not related to the children's' age or size, the correlations between the E/Ea ratio and age and size were statistically significant. The myocardial velocities of the neonate were characteristic and different to those of the older paediatric population (slower Ea and S waves, faster Aa with a higher E/Ea ratio). The authors conclude that Doppler tissue imaging is feasible in clinical paediatric cardiology. Comparative studies with populations with cardiac disease are necessary to determine pathological values.

[Alveolar capillary dysplasia and persistent pulmonary hypertension of the newborn]. / La dysplasie alvéolo-capillaire: une cause exceptionnelle d'hypertension artérielle pulmonaire persistante du nouveau né. A propos d'un cas.

Alveolar capillary dysplasia is a rare cause of persistent pulmonary hypertension of the newborn. The diagnosis of this condition is made by histological study of a pulmonary biopsy. Familial forms and associated genitor-urinary and gastrointestinal malformations have been reported. Despite optimal management, the prognosis remains poor. The authors report the case of a neonate who developed cyanosis and cardiogenic shock on the 10th day of life. There was no associated neonatal pathology. Echocardiography showed supra-systemic pulmonary hypertension with normal cardiac structure. Pulmonary vasodilator therapies (inhaled NO, prostacyclin, sildenafil, bosentan) were ineffective and the child died on the 25th day of life. Autopsy revealed alveolar capillary dysplasia.

[Arrhythmia follow-up of children and adolescents with neuromuscular diseases]. / Surveillance rythmologique de l'enfant et l'adolescent avec maladie neuro-musculaire.

Much progress has been made over the last few years in understanding and classifying neuromuscular diseases. The heart is frequently affected but often in a dissociated manner with respect to the neuromuscular signs although it has a significant impact on the prognosis. In children and adolescents, the dystrophinopathies, especially Duchenne's muscular dystrophy, are the principal problems but the mild arrhythmic events observed seem to be related to left ventricular dysfunction. On the other hand, in myotonic dystrophies (Steinert's disease), ventricular arrhythmias or conduction defects may appear at an early stage of the disease with serious consequences justifying appropriate follow-up and invasive preventive measures. Emery Dreifuss X-linked dystrophy and other laminopathies are rare conditions but are associated with sudden death and cardiomyopathies of the young adult. Specialised cardiological follow-up is justified in childhood from the time of diagnosis. Medication or implantable electric devices may be justified before the end of the second decade of life. Progressive infra-hisian conduction defects have also been reported in Kearns-Sayre oculo-pharyngeal myopathy. Prospective studies are required at this age to determine the natural history of these pathologies that are probably under diagnosed. The present recommendations, which are based mainly on data from adult series, could then be adapted for younger patients.

[Severe nutritional rickets in young children: Resurgence of an old disease]. / Rachitisme carentiel sévère du nourrisson : de nouveau d'actualité.

Nutritional rickets remains a significant public health issue for children worldwide. Although it has almost disappeared in industrialized countries following routine vitamin D supplementation, recent evidence suggests an increasing incidence, especially in young children. In addition to the classical clinical consequences on bone and the growth plate, rickets may also be associated with life-threatening neurological and cardiac complications in the most severe forms. Consequently, early screening and treatment are required. Here, we report the case of a 2-year-old child who presented with severe nutritional rickets associated with seizure and cardiomyopathy. Family screening revealed rickets in all the siblings. This case report emphasizes the importance of being aware of this disease, notably in population with sociocultural risk factors.

[New approach to perimembranous ventricular septal defect by real-time 3D echocardiography]. / Nouvelle approche des communications interventriculaires périmembraneuses par échocardiographie 3D temps réel.

Perimembranous ventricular septal defects (VSD) have a close anatomical relationship to the aortic and tricuspid valve which may make percutaneous closure difficult. The authors' objective was to study the anatomy of perimembranous VSD by real-time 3D echocardiography. Fourteen patients aged 1 day to 3 years (mean 3 months) underwent transthoracic 2D and 3D echocardiography. Two patients (> 10 kg) underwent closure of the perimembranous VSD with an Amplatzer occluder. The other 12 patients were operated (surgical closure in 11 and circling suture with resorbable thread in 1 patient). The 3D echocardiography showed variations in the geometry of the perimembranous VSD (eccentric, oval, cleft). The maximal diameter of the septal defect by 3D echocardiography was on average 2 mm greater than the diameter by 2D echocardiography. The 3D echo enabled visualisation of the close relationship of the septal tricuspid leaflet, the aortic valve and the perimembranous VSD, showing the mechanism of its closure and the associated aortic regurgitant lesions. The profile of the prosthesis implanted percutaneously was well shown in the different 3D views. The authors conclude that real-time 3D echocardiography is a technique which allows accurate anatomic description of perimembranous VSD. As a complement to classical 2D methods, it gives a better appreciation of the maximal diameter of the septal defect and of its relationship to the aortic and tricuspid valves.

[Unusual outcome of mitral valve infectious endocarditis in a premature infant]. / Evolution inhabituelle d'une endocardite infectieuse mitrale chez un prématuré.

The authors report a case of Staphylococcus Aureus infectious endocarditis in a premature baby. Echocardiography on the 8th day of life showed a large vegetation on the anterior mitral leaflet without significant regurgitation. Intravenous antibiotics and platelet antiaggregant therapy were given. At three weeks of age the vegetation split into two, one part attached to the foramen ovale and the other to the anterior mitral leaflet. At one month, the development of severe mitral regurgitation led to surgical valvuloplasty in a 2 kg neonate, the vegetation on the foramen ovale having spontaneously fragmented. The ablation of the mitral vegetation associated with commissuroplasty reduced the mitral regurgitation. At 3 months after surgery, the child was asymptomatic with a minimal mitral regurgitation.

[A rare association of double discordance with aortic arch anomalies: value of multislice CT scan]. / Association exceptionnelle d'une double discordance avec anomalie des arcs aortiques: apport du scanner multicoupe.

The authors report the case of a 14 month old infant admitted for intermittent stridor. Routine echocardiography showed atrioventricular and ventriculo-arterial discordance with an intact septum and situs solitus with levocardia. Multislice CT scan showed tracheal compression due to a Neuhauser anomaly of the aortic arches. The paucity of symptoms led to surgical abstention.

[B-natriuretic peptide and cardiological emergencies in childhood]. / Peptide natriurétique de type B et urgences cardiologiques chez l'enfant.

The increase in B-natiuretic peptide (BNP) is well correlated with cardiovascular symptoms in adults. Its use in children is recent and only partially evaluated. The authors undertook a prospective study of BNP concentrations and its kinetics in 54 children with an average age of 15 months (5 days to 11 years) admitted as paediatric emergencies. The symptoms were dyspnoea (60%), shock (15%), suspicion of Kawasaki disease (15%) and other (10%). Twenty children had BNP levels of more than 100 pg/ml related to decompensation of known congenital heart disease in 7 patients (average BNP 462 +/- 323 pg/ml), due to neonatal coarctation in 2 patients (BNP > 3000 pg/ml), due to cardiomyopathy in 6 patients (BNP= 2576 +/- 1215 pg/ml), due to an arrhythmia in 1 patient (BNP= 3754 pg/ml) and to Kawasaki disease in 4 patients (BNP= 521 +/- 448 pg/ml). Thirty-four children had BNP values of less than 100 pg/ml; 29 had no cardiac disease and 5 had known congenital heart disease with other symptoms. Measuring BNP is quick and economical and is a valuable aid in the diagnosis of cardiac dysfunction in symptomatic children in the emergency room. High BNP values seem to be correlated with the severity of the cardiac disease. Low BNP values seem to have a good negative predictive value in children without underlying cardiac disease. The interpretation of intermediary values, especially when there is previous cardiac disease, is more difficult in view of the absence of known threshold values for different haemodynamic situations. Further studies are required to determine the value of this test for the follow-up and setting up of prognostic values in children with congenital heart disease.

[Antenatal closure of ductus arteriosus following maternal intoxication by niflumic acid]. / Fermeture anténatale du canal artériel chez un foetus suite à une intoxication maternelle par acide niflumique.

Antenatal closure of the ductus arteriosus is an uncommon event that has been considered as a risk factor for development of congestive heart failure and persistent pulmonary hypertension of the newborn. We report here on a case of antenatal ductus arteriosus closure due to niflumic acid maternal intoxication at 32 weeks of gestation. Fetal extraction was performed few days later because of echographic signs of congestive heart failure. The child survived after 3 days of severe persistent pulmonary hypertension. This case emphasizes the potential risk of niflumic acid during pregnancy and the need of antenatal echographic monitoring for optimal management.

[Fulminant myocarditis presenting like acute myocardial infarction in a 6-year-old girl]. / Myocardite aiguë fulminante mimant un infarctus du myocarde chez une enfant de 6 ans.

Acute myocarditis is a rare inflammatory cardiac disease in children with potentially fatal issue. Clinical findings are very variable from nausea and vomiting to acute cardiovascular collapse. The cardiac function can be reversible with circulatory support. We report the case of a 6-year-old girl with ECG changes like myocardial infarction and diagnosis of fulminant myocarditis. She developped rapidly a cardiogenic shock and died before treatment with mechanical circulatory support.

[Very large cardiac tumor revealed by ventricular arrhythmia in a 18-month-old infant]. / Volumineuse tumeur cardiaque révélée par un trouble du rythme ventriculaire chez un nourrisson de 18 mois.

Cardiac tumors are rare in childhood and can be revealed by arrhythmias. We report the observation of an 18-month-old infant who had an episode of ventricular tachycardia (VT) which resulted in a large intramyocardic tumour diagnosis evocating a left ventricular fibroma. A treatment by amiodarone allowed a stable reduction of the VT. The presence of an intracardiac obstruction or uncontrollable arrhythmias would lead to a surgical resection.

[Cor triatriatum sinister: unusual cause of neonatal respiratory distress]. / Coeur triatrial gauche: une cause inhabituelle de détresse respiratoire néonatale.

We report the case of a newborn presenting with neonatal respiratory distress due to acute pulmonary edema, the underlying diagnosis being cor triatriatum sinister. This rare anomaly can be lethal in the short term. However, it can be completely cured surgically provided that diagnosis is made on time.

[Loeys-Dietz syndrome (TGFßR2 mutation) in a 4-year-old child with thoracic aortic aneurysm]. / Syndrome de Loeys-Dietz (mutation TGFßR2) chez une enfant de 4ans avec anévrysme de l'aorte thoracique.

Loeys-Dietz syndrome is a rare form of connective tissue disorder, whose clinical features can resemble those of Marfan syndrome, but with a more unpolished appearance. Recently brought out, this pathology remains little known; however, its consequences may be dramatic. We report on the case of a 4-year-old girl followed for a congenital hip dislocation, in which a systematic exam found increased cutaneous elasticity and a bifid uvula, suggesting a connective tissue disorder. Symptoms were unpolished, as the child's height was normal, without any positive cardiac, rheumatological, or ophthalmological family history. Cardiovascular tests found a thoracic aortic aneurysm at the Valsalva sinus (26mm, Z-score=+4.24). A genetic investigation found a TGFßR2 gene mutation, leading to the diagnosis of Loeys-Dietz syndrome type 2. Skeletal damage associated with bifid uvula and/or hypertelorism and an aneurysm of the ascending aorta should guide the genetic investigation to the search for TGF-ß vasculopathy such as Loeys-Dietz syndrome.