[Orphanet and its consortium: where to find expert-validated information on rare diseases]. / Orphanet et son réseau: où trouver une information validée sur les maladies rares.

There are approximately 6000 rare diseases, and 80% of them are genetic. In Europe, a disease is considered rare when it affects no more than one person in 2000. In France, two to three million people are affected, while nearly 30 million others are affected across Europe (5-8% of the whole European population). The majority of rare diseases are poorly understood by health professionals. Due to the lack of sufficient scientific and medical knowledge, many patients are misdiagnosed, which results in delays in care that can be harmful. Because many rare diseases are often associated with neurological manifestations, the neurologist in his daily practice may often encounter these complex diseases that require special care as well as a multidisciplinary approach. Orphanet is the reference portal for rare diseases. Freely accessible on the Internet, it is a non-profit service officially supported by the French Ministry of Health and the European Commission. Its mission is to keep healthcare professionals and patients informed and, by so doing, it contributes to improvements in the diagnosis and treatment of rare diseases. It is currently the only project that establishes a link between diseases and any published information concerning them, and the appropriate services for patients as well as healthcare professionals. Orphanet is currently the most comprehensive site in terms of referenced and documented data, and it has in just a few years become the global reference portal for rare diseases and orphan drugs for all audiences. Orphanet generates a million page views per month. The site is available in six languages (English, French, Spanish, Italian, German and Portuguese) and offers a range of services, including: an inventory, classification and peer-reviewed encyclopedia of rare diseases along with the associated genes (more than 2000 diseases with neurological manifestations are described); a diagnostic support tool; clinical and emergency guidelines; a directory of specialised services in 37 partner countries; an encyclopedia aimed at the general public; an inventory of orphan drugs; downloadable thematic studies and reports on such subjects as the prevalence of rare diseases, orphan drugs, aids and services for patients; and numerous links to other sources of information. Five to ten new rare diseases are described every month, which represents a major challenge for health professionals in terms of keeping their knowledge up to date. The Orphanet website content is expert-validated and updated continuously to respond in real time.

[Familial use of ibuprofen in febrile children: a prospective study in the emergency room of an hospital in Lille]. / Utilisation familiale de l'ibuprofène chez l'enfant fébrile: une étude prospective aux urgences d'un hôpital lillois.

AIM OF THE STUDY: To assess the place of ibuprofen in the treatment of fever in children. PATIENTS AND METHODS: An anonymous self-questionnaire was submitted to the parents of 156 children aged less than 15 years and 3 months consulting for a fever in a pediatric emergency care unit. Questions related antipyretic drugs availability at home and their administration modality to the febrile child. RESULTS: Acetaminophen (liquid or rectal) was the first drug owned by families (N = 149, 96%). Ibuprofen was owned by 79 families (51%). The antipyretic drug administered as a first intention treatment was acetaminophen in 131 children (77%), ibuprofen in 27 (17%) and aspirin in 6 children (4%). An antipyretic bi-therapy was received by 58 children (35%), nearly always acetaminophen and ibuprofen (N = 48, 87%). The use of a bi-therapy was more frequent when ibuprofen was the first drug used. Children who received an antipyretic bi-therapy as compared to those who received a monotherapy exhibited significantly a higher fever level and long lasting fever period. Antipyretic drugs given to the sick children were prescribed by a physician in more than 90% of cases. CONCLUSION: Ibuprofen was largely used in febrile children. This drug has almost always been prescribed by a physician. However, due to its side effects, ibuprofen should be used only in high and badly tolerated fever that is not altered by a well conducted acetaminophen monotherapy.

Regulation of sleep and body temperature in response to exposure to cool and warm environments in neonates.

BACKGROUND AND OBJECTIVE: Thermoregulation is impaired during desynchronized sleep in animals and in adults. This can lead to a conflict between homeothermy and sleep in nonthermoneutral conditions. This study aimed to analyze thermoregulation during sleep, especially during desynchronized sleep (active sleep, AS) and to determine whether the conflict between thermoregulation and sleep might exist in the newborn sleeping in warm or cool conditions. METHODS: Esophageal and skin (cheek and abdomen) temperatures, local sweating rate (ventilated sweat collection capsule stuck on the abdomen), metabolism (indirect respiratory calorimetry), and sleep variables were recorded in 10 newborns exposed, in an incubator, to thermoneutral, warm, and cool environments. Body movements and apneas were also considered. Exposures were performed after a first habituation condition. RESULTS: Sleep structure was not modified by the first exposure nor by the warm environment. Exposure to cool temperatures increased AS duration (+13% of total sleep time) and the quantity of body movements during AS (+11.3% of AS duration), whereas these parameters were not modified during quiet sleep. The thermoregulatory response to warm and cool environments was not impaired during AS. During exposure to mild thermal load, analyses revealed large interindividual differences in the strategy for thermoregulation during AS. Depending on the newborn, the thermoregulatory response to cool temperatures could be described by an increase either in nonshivering thermogenesis or in frequency of body movement. In warm conditions, most newborns exhibited an increased sweating rate. The interindividual differences (lack of increase sweating in three newborns) seemed to be linked to changes in the sensitivity of the sweating response. CONCLUSION: Because thermoregulation is not impaired during AS, this sleep stage seems to be a well-protected one from a thermoregulatory point of view. This difference from adults and animals may be due to the important role of AS in newborn's nervous maturation.

[Familial cardiomyopathy caused by carnitine deficiency]. / Myocardiopathie familiale par déficit en carnitine.

The authors report a familial case of carnitine insufficiency presenting in two out of seven children as a severe, isolated, hypertrophic and hypokinetic cardiomyopathy. The etiology was confirmed by histological study and measurement of carnitine concentrations in the blood and muscle. The evolution was spectacular with specific therapy. Left ventricular hypokinesia regressed completely within 18 months (fractional fibre shortening increased from 10 to 33% and the SCI from 26 to 55% in the more severe of the two cases). Hypertrophy and dilatation decreased significantly. This is a so-called intermediary form of carnitine insufficiency and very unusual because of the isolated cardiac involvement. These cases underline the value of systematic muscle biopsy with measurement of carnitine concentrations in the investigation of all cases of supposed primary cardiomyopathy, especially as a rapid improvement can be obtained by specific replacement therapy.

Neonatal thermoregulation.

The human being is a homeotherm. Homeothermy is a result of thermoregulation which includes many physiological processes. Thermoregulation maintains an equilibrium between heat production (thermogenesis) and heat loss (thermolysis). There are three principal modes of heat production: 1. Voluntary muscle activity. 2. Involuntary tonic or rhythmic muscle activity known as "shivering". 3. Non-shivering thermogenesis (NST) essential for newborns. Heat loss occurs in two stages: 1. The flow of heat from the center of the body to its surface. 2. The flow of heat from the body surface to the environment by conduction, convection, radiation or water evaporation. Even in the very small premature baby, we find that metabolic and vasomotor control responses are developed. To protect the newborn from stress resulting from hypo or hyperthermia, one should take into consideration the concept of the neutral temperature range which is also called the "Thermoneutral Zone" in (TNZ) or "Thermal Neutrality". Curves, proposed in 1971 by Hey are essential for keeping newborns in the TNZ.

Should an echocardiographic scan be done routinely for infants of diabetic mothers?

Several cardiologic pathologies are seen in infants of diabetic mothers (IDMs). Though asymmetrical septal hypertrophy (ASH) is a frequent pathology in IDMs, it is not routinely searched for with an echocardiographic scan. We have performed an echocardiographic examination for all IDMs (56 neonates) hospitalized between January 1987 and December 1992 in our neonatology and neonatal reanimation units. Of 56 patients, the diagnosis of 17 cases of ASH 930%) was made. The group with ASH (17 neonates) had a greater corporeal index than the group without ASH (39 neonates) (p < 0.05). Four of the 17 IDMs (24%) with ASH and one of the 39 IDMs (3%) without ASH presented with a cardiac insufficiency (p < 0.05). ASH is a pathology which should be searched for routinely IDMs.

Selective abortion: a new moral order? Consensus and debate in the medical community.

The authors discuss the results of a survey of the attitudes of Canadian and French (Picardie, Nord-Pas de Calais) physicians toward selective abortion of fetal anomalies detected by ultrasound, amniocentesis, or chorionic villus sampling. The study documents the threshold of acceptability of abortion of fetuses with selected anomalies, as well as the physicians' own perceptions of their role in the decision to abort. While there was no consensus among all Canadian physicians regarding the acceptability of abortion, more than 55 percent from France and Quebec would accept selective abortion of a fetus affected with trisomy 21, Duchenne muscular dystrophy, cystic fibrosis, Huntington's chorea, or spina bifida. In the province of Quebec, Anglophone physicians showed a greater acceptance of abortion than did their French-speaking colleagues. In reference to the physician's role in the decision to abort, French physicians are more directive than North American physicians. Cultural predispositions may explain these differences in attitudes.

PIP: Medical genetics is currently at the center of social debate on the future of human reproduction. Given the current availability of quite a few prenatal diagnostic tools capable of detecting pathologies in utero, the authors investigated the attitudes of selected French and Canadian physicians toward selective abortion following the detection of fetal anomalies by ultrasound, amniocentesis, or chorionic villus sampling. The study was first carried out in the province of Quebec and the Picardie and Nord-Pas de Calais regions of France, while a second study was conducted in Anglophone Canada within the framework of a royal commission. In all of Canada, 3072 physicians returned completed questionnaires for a response rate of 52%. 588 physicians in France returned the questionnaire for a response rate of 54%. There was no consensus among Canadian physicians on the acceptability of abortion, but more than 55% of respondents from France and Quebec would accept the selective abortion of a fetus affected with trisomy 21, Duchenne muscular dystrophy, cystic fibrosis, Huntington's chorea, or spina bifida. In the province of Quebec, Anglophone physicians were more accepting of abortion than their Francophone colleagues. Regarding the physician's role in the decision to abort, French physicians are more directive than North American physicians. Cultural predispositions may explain these differences in attitude.

[Frequency of the ocular carriage of Chlamydia trachomatis by newborns and infants. A multicenter French study]. / Fréquence du portage oculaire de Chlamydia trachomatis chez les nouveau-nés et les enfants. Une étude française multicentrique.

A multicenter study has been done in France in order to assess the presence of C. trachomatis in the newborn and the young infant. The results show that 4.3% of the infants less than 2 month old are positive. This put forward the question of the screening of pregnant women.

[Rapid identification of pneumococcal antigenes in urines by the Now Streptococcus pneumoniae Binax test]. / Détection rapide des antigènes pneumococciques urinaires par le test Now Streptococcus pneumoniae Binax.

Streptococcus pneumoniae is responsible for many infectious conditions but probably with an underestimated incidence especially because of the fragility of the bacteria. The present study has evaluated a new test which detects a pneumococcal antigen in urine (Now S.p Binax). Urine samples from 181 children and 40 adults have been tested. All the patients presented with typical clinical signs of pneumococcal infection. Sensitivity = 91.7 %; specificity = 54.2 %; positive predictive value = 50 %; and negative predictive value = 92.9 % have been observed. Although the sensitivity and specificity were lower than those announced by the manufacturer, the test is easy to handle and provides a rapid argument for the diagnosis of pneumococcal infection, especially in the case of invasive infections like meningitis and bacteraemia.

[Evolution of the result of respiratory function studies in children with bronchopulmonary dysplasia]. / Evolution du résultat des explorations fonctionnelles respiratoires chez les enfants atteints de dysplasie bronchopulmonaire.

BACKGROUND: Reports of short- and medium-term evolution of Lung Function Tests (LFT) in infants with bronchopulmonary dysplasia (BPD) are still scarce. POPULATION AND METHODS: The results of the first (before 3 months of corrected age) and the second (between 3 and 9 months of corrected age) LFT in 22 premature infants with BPD (gestational age 31 +/- 2.5 weeks; birth weight: 1570 +/- 440 g; duration of mechanical ventilation: 46 +/- 24 days, total duration of oxygen therapy: 88 +/- 47 days) were compared to those obtained in 27 normal infants for the first LEF and 10 normal infants for the second LFT, similar to the patients for birth weight and corporeal index (CI). RESULTS: In the first LFT, major abnormalities were an increased thoracic gaz volume (TGV) (16.5 +/- 42 vs 122 +/- 24 mL; P < 0.001) and TGV CI ratio (1.25 +/- 0.31 vs 0.89 +/- 0.17 ml/kg/m2; P < 0.0001) a decreased pulmonary compliance (2.49 +/- 1.46 vs 11.60 +/- 4.50 mL/cmH2O; P < 0.0001) and specific pulmonary compliance (0.015 +/- 0.10 vs 0.100 +/- 0.042 mL/cmH2O/mL de TGV; P < 0.0001), an increased total pulmonary resistance (20.4 +/- 12.1 vs 10.5 +/- 5.3 cmH2O/L/s; P < 0.001). In the second LFT, an increased TGV (235 +/- 62 vs 166 +/- 28 mL; P < 0.01) and TGV CI ratio (1.64 +/- 0.65 vs 0.98 +/- 0.11 ml/kg/m2; P < 0.05), a decreased pulmonary compliance (2.68 +/- 2.0 vs 15.2 +/- 5.7 mL/cmH2O; P < 0.0001) and specific pulmonary compliance (0.013 +/- 0.010 vs 0.106 +/- 0.050 mL/cmH2O/mL de TGV; P < 0.0001), an increased total pulmonary resistance (17.1 +/- 9.6 vs 8.6 +/- 4.9 cmH2O/L/s; P < 0.05) were noted when compared with the control group results. Major abnormalities of the blood gases were hypoxemia (63 +/- 10 vs 85 +/- 20 mmHg; P < 0.05), hypercapnia (38.5 vs 31 +/- 4 mmHg; P < 0.0001) during the first LFT. Hypoxemia (77 +/- 14 vs 90 +/- 14 mmHg and hypercapnia (37 +/- 4 vs 29 +/- 5 mmHg) continued in the second LFT. Thoracic distention and total pulmonary resistances in infants with BPD did not improve but their pulmonary compliance (P < 0.0001) and PaO2 (P < 0.01) between the first and second LFT did it. Infants who had been ventilated for a hyaline membrane disease (HMD) were more hypoxic on the second LFT (P < 0.05) than those who had been ventilated for other causes. Statistically significant relationships were found between thoracic distention and duration of positive inspiratory pressure (P < 0.05; r = 0.43), duration of positive expiratory pressure (P < 0.05, r = 0.45) total oxygen therapy duration; between total pulmonary resistance and duration of mechanical ventilation with high frequency (P < 0.05; r = 0.52); between hypoxemia and duration of oxygen therapy with FiO2 > or = 60% (P < 0.05; r = 0.54). CONCLUSIONS: This study shows prolonged clinical and functional abnormalities of the respiratory functions requiring longer follow-up.

[Retrospective analysis of 1331 samples of cerebrospinal fluid in newborn infants with suspected infection]. / Analyse rétrospective de 1331 échantillons de liquide céphalorachidien chez le nouveau-né suspect d'infection.

BACKGROUND: Definitive diagnosis of a neonatal infection usually requires recovery of an etiologic agent from body fluids or tissues such as spinal fluid, blood and urine. Routine lumbar puncture (LP) may raise some problems in interpreting results. POPULATION AND METHODS: A retrospective analysis of 1331 samples of CSF was made. LP had been performed on 1041 neonates including 569 prematures (54.6%) as a part of the evaluation for suspected bacterial infection. RESULTS: In 50.7% of the cases, the CSF was haemorrhagic. The frequency of traumatic taps increased with the degree of prematurity, low birth weight, precocity of LP, association with respiratory distress and disorders of coagulating factors. In addition, haemorragic taps modified biochemical and cytologic characteristics of CSF. One hundred and six (8%) CSF samples contained organisms but the diagnosis of meningitis was certain in only 23 cases (2.2%). In the other 83 cases, CSF was thought to be contaminated, mostly by coagulase-negative staphylococci. Since both blood and CSF cultures were positive for the same bacterial organism in 18 cases, it was concluded that the LP had been useful in identifying the pathogens in only five cases. The high frequency of contaminated CSF led to overestimation of the incidence of true bacterial meningitis (0.57% in our study). CONCLUSIONS: The low incidence of meningitis in neonates, the risk of having an haemorragic tap associated with the possibility of clinical aggravation during LP and the fact that the same pathogen is frequently (78.2% of cases) identified in blood cultures suggest that the immediate and routine LP is of less value than expected in infants suspected to be infected. LP could be postponed when the neonate presents with a respiratory distress syndrome and/or a precarious haemodynamic state.

["Disruptive births" and Father representation.]. / Naissance « bousculée ¼ et devenir de la représentation paternelle.

The following reflection deals with Father representations and their evolution after Disruptive births. It is part of a much wider study taking into account the diversity of parents in these medicalized cases in which initial separation is unavoidable. This discontinuous study involves 50 families classified according to the children's neonatal characteristics (very premature birth, premature birth, premature birth with artificial insemination, non-premature birth). The study took place between 1990 and 1994 at Amiens Main Hospital in France (maternity and neonatal departments) in the beginning, and continued in the parent's homes. With its interest in the role of Parental Representations, this study introduces to the medical fields, an additional clinical sense which does not leave to the sole somatic state of the child the burden of the evolution of the mother-child relationship. At this point we discuss solely of the fathers, their trials, and also the resources they can bring to bear in the work of the maternal psyche when they are well supported.

[Health of gypsy children: medical perinatal care until 6-year-old in Lille]. / La santé des enfants des gens du voyage : suivi périnatal et jusqu'à 6 ans dans la métropole lilloise.

AIM: This study investigated the health of gypsy children, aged 0-6 years. We focused on pregnancy, birth, medical care, growth, and vaccinations. PATIENTS AND METHODS: This study was conducted between May and December 2004, comparing a gypsy population group (GP) to a sedentary control group with a relatively low socioeconomic level. Both groups were covered by the CMU (French universal health coverage). This study was based on an oral investigation and each child's health records. RESULTS: The population consisted of 241 children: 120 GP children and 121 CMU children. In the GP children, pregnancy care was lacking, whereas the CMU group received consistent care at regional university hospital centers. For both populations, 85% of births occurred after a mean 38 weeks and 5 days of amenorrhea by ordinary delivery. GP infants were more often transferred to neonatology centers. They were born and were shorter and weighed less than the CMU infants until 6 years of age. They were breast fed more often. They were hospitalized more often, usually for ORL and gastrointestinal infections. Siblings were more numerous. GP child medical care was deemed satisfactory in 40% of cases vs. 70% for CMU children. The vaccinations status was insufficient, particularly in the GP children. CONCLUSION: Follow-up of GP should be improved.