[Acanthosis nigricans in children and Crouzon syndrome]. / Acanthosis nigricans chez l'enfant et syndrome de Crouzon.

BACKGROUND: Crouzon syndrome with acanthosis nigricans is a rare form of Crouzon syndrome in which craniosynostosis and facial dysmorphism are associated with acanthosis nigricans. PATIENTS AND METHODS: Cutaneous examination of a 9-year-old child presenting bicoronal craniosynostosis revealed acanthosis nigricans of the cervical, axillar, inguinal and popliteal regions which appeared at the age of two. He had a dysmorphic face including a large forehead, hypertelorism, mid-face hypoplasia, prognathism and low-set ears. These clinical anomalies suggested a case of Crouzon syndrome with acanthosis nigricans, which was later confirmed by the finding of a mutation in the FGFR3 gene. DISCUSSION: Acanthosis nigricans in children is often a cutaneous marker of insulin resistance. However, it may also form part of diverse diseases, notably those of genetic origin. The association of craniosynostosis and acanthosis nigricans allows incrimination of the FGFR3 gene from the outset and diagnosis of Crouzon syndrome with acanthosis nigricans. In the present case, dermatological examination allowed an aetiology of craniosynostosis to be determined.

Assessment of general emergency medicine physicians' medical education regarding management of pediatric emergencies in western Normandy, France.

OBJECTIVES: General emergency medicine physicians sometimes have to deal with acute management of pediatric emergencies. The objectives of this study were to assess the pediatric medical education background of emergency physicians, how often they encounter pediatric emergencies, as well as the knowledge and organizational gaps regarding the management of children in general emergency departments. METHODS: A survey was conducted from March 25 to June 25, 2017, by emailing an anonymized questionnaire to all senior emergency physicians of the 22 general emergency departments of western Normandy public hospitals. RESULTS: A total of 81 responses were analyzed. In all, 83% percent of respondents had previously worked in a pediatric department. In total, 90% of the respondents reported caring for children within their emergency department and 93% out-of-hospital (100% of them during primary interventions and 39% during secondary interventions such as inter-hospital transfers). Fourteen percent of the respondents considered that the pediatric medical education they received was adapted to their current practice, while 73% reported experiencing difficulties during management of pediatric emergencies (technical difficulties, unsuitable material and therapeutics, relational problems, personal apprehension, disease- or age-specific difficulties, especially with children under the age of 2-3 years). CONCLUSION: Most general emergency physicians report caring for children despite a lack of medical education in pediatrics. Pediatric medical education as well as collaborations between general practitioners and specialized pediatric teams should be enhanced to better match the needs of general emergency departments and improve the quality of primary and acute care for children.

Caffeine treatment for bronchiolitis-related apnea in the pediatric intensive care unit.

INTRODUCTION: Apnea is commonly encountered in children with bronchiolitis. Despite the lack of recommendations regarding bronchiolitis-related apnea (BRA) management, some pediatric intensive care unit (PICU) practitioners use caffeine treatment based on extrapolation from the recommendations for prematurity-related apnea management. The objectives of this study were to describe the management of BRA in our PICU, evaluate the caffeine prescription rate for this indication, and explore its potential effects on clinical outcomes. METHODS: This was a retrospective study in a university hospital PICU between January 1st, 2009 and December 31st, 2016. All children under 1 year of age admitted to the PICU with a diagnosis of BRA were included. Patients were allocated to a control group or a caffeine group depending on the administration of caffeine. RESULTS: In total, 54 infants were included and caffeine treatment was administered to 49 (91%) of them. Patient characteristics were similar between the two groups. Ventilatory support was initiated for 50 patients (93%). Supportive care and length of PICU stay were similar between the two groups. Caffeine was not associated with adverse events. CONCLUSION: Caffeine treatment in BRA could be considered as a local standard practice. This retrospective study was underpowered to show any benefit of caffeine treatment on clinical outcomes. This treatment was not associated with significant adverse effects. We raised the question of the appropriate caffeine dosing regimen for BRA in this postterm population. Further studies on this topic are warranted.

[Pasteurella multocida meningoencephalitis in a 14-year-old child]. / Méningo-encéphalite à Pasteurella multocida chez un enfant de 14 ans.

Pasteurella multocida is generally responsible for local infections through animal bites. It can be a cause of meningitis, which tends to affect people at the extreme ages of life or suffering from immunodeficiency. A 14-year-old teenager was hospitalized with typical signs of bacterial meningitis. P. multocida was evidenced in the cerebrospinal fluid. Progression was marked by a degradation on the 4th day of treatment, despite intravenous antibiotic therapy with third-generation cephalosporin, followed by a single seizure on the 7th day of treatment. The CT scan and magnetic resonance imaging showed pansinusitis but no intracerebral complications. Later progression was favorable, without neurological sequelae. The mode of contamination was inoculation via the upper airways with sinusitis. P. multocida meningitis is rare. The contamination does not always involve animal trauma.

[Management of patients under 18years of age by adult intensive care unit professionals: Level of training, workload, and specific challenges]. / Prise en charge de patients mineurs par les équipes de réanimation pour adultes : expérience pédiatrique, estimation de l'activité et difficultés ressenties par les soignants.

In routine practice, intensive care physicians rarely have to manage children under 18years of age, particularly those under 15. This study's objectives were to assess the quality of training in pediatrics of adult intensive care teams, to document the workload generated by care of pediatric patients, and to identify the difficulties encountered in managing minors as patients. A survey was administered in Lower Normandy from 4 April 2012 to 1 September 2012. Physicians, residents, nurses, and nurses' aides practicing in one of the nine intensive care units of Lower Normandy were asked to complete an electronic or paper format questionnaire. This questionnaire assessed their level of pediatric training, the workload management of pediatric patients entailed, and the challenges posed by these patients. One hundred and nine questionnaires were returned (by 26 attending physicians, 18 residents, 38 nurses, and 27 nurses' aides). Eighty-three of the respondents (76%) had no experience in a pediatric unit of any kind. Forty-two percent thought that the pediatric age range lies between 3months and 15years of age. However, more than 50% of respondents would like the upper limit to be 16years or even older. Ninety-three respondents (85%) estimated having some exposure to pediatric patients in their routine practice, but this activity remained quite low. Seventy-three (67%) reported difficulties with the management of these young patients. This survey provides current information regarding the level of training of adult intensive care unit professionals and their concerns about managing patients under 18years of age, both in terms of workload and specific challenges.

[Life-threatening sleepwalking (Elpenor's syndrome) in a 10-year-old child]. / Somnambulisme avec mise en danger vital (syndrome d'Elpénor) chez un enfant.

Though benign in the majority of cases, sleepwalking sometimes causes injuries due, among other causes, to falls. Such accidents can be life-threatening - a situation that has been termed Elpenor syndrome (in reference to an accident experienced by a character in Homer's epic The Odyssey) - in particular when entailing defenestration. This syndrome has been described in adults and adolescents; we report here a case in a child. OBSERVATION: This 10-year-old girl was admitted at night to our hospital after a 3-m fall at home. She was alert (Glasgow score, 15) at admission; a frontal wound and a deformation of the right wrist were noted. Brain CT scans showed a frontal skull fracture and frontal lobe contusion, wrist x-rays showed a displaced right fracture. The patient underwent urgent neurosurgery (wound excision and suture after reduction of skull fracture) and closed reduction and immobilization of the wrist fracture, both under general anesthesia. She underwent a psychiatric assessment in the intensive care unit 3 days after her fall. She was alert, well-oriented in time and space, and spoke fluently. She had no memory of her fall, only remembering going to bed in the evening before the accident and waking up in the ambulance on the way to the hospital. She displayed no sign of a concurrent mental illness and no suicidal ideas. Her parents reported that the evening of the accident she and her two brothers had all fallen asleep about 11:00 pm while watching TV, in the double bed of the guest room, placed just beside its window. At approximately 1:00 am, her father, who was going to bed and had just made noise in the hall, heard a cry from the guest room. He entered the room immediately and saw the opened window and his daughter lying on the outside ground; the brothers only awakened after the fall. The family had returned 2 days before from a 6-month stay in the United States, with jet-lag, sleep deprivation, and a disorganized sleep/wake rhythm in the patient. There was no medication before the accident, no substance use (including caffeine), and no concurrent medical problem. Over the 2 preceding years, the patient had undergone two witnessed episodes of early-nighttime arousal with altered consciousness and calm wandering (including going downstairs on one occasion), both strongly suggesting sleepwalking. There was a history of sleepwalking in her father and her older brother. Life-threatening sleepwalking (Elpenor syndrome) was diagnosed. The child and her parents were educated about sleepwalking; regularization of sleep schedules and sleep extension (avoidance of sleep deprivation, short napping when possible) were prescribed. We also recommended securing the home (bed, windows, and stairways). No pharmacological treatment was instituted. During the following 18 months, the child manifested only one noted sleepwalking episode, without risk-taking. She had no neurological or psychopathological sequela from her accident, of which she never had a memory. CONCLUSION: Elpenor syndrome can occur in a child; consequently, it is important to inform parents of children with sleepwalking about the necessity of always securing the night-time environment.

[Tricuspid valve endocarditis after umbilical piercing]. / Endocardite tricuspide après un piercing ombilical.

We report a case of a 16 years old girl who was affected by a septicemia with a septic arthritis of the wrist and a tricuspid endocarditis, 3 months after a navel piercing. The blood culture and the liquid of puncture showed Staphylococcus aureus. A treatment prolonged by intravenous antibiotics permitted a progressive regression of endocarditis, without surgical intervention. The piercing must be achieved in conditions of strict asepsis, it must be advised against to the patient with congenital heart disease. In case of realization of a piercing an antibiotic prophylaxis must be achieved, while using preference pristinamycin in case of cutaneous piercing and amoxicillin in case of mucous piercing. Indeed, infective endocarditis after body piercing are more often brought back with a generally sterner evolution that in our observation.

[Fulminant influenza type A associated myocarditis: a fatal case in an 8 year old child]. / Myocardite fulminante à virus Influenza A: à propos d'un cas fatal chez une enfant de 8 ans.

Fulminant Influenza type A-associated myocarditis are very rare in children. The clinical presentation is non specific, like flu illness, cardiogenic shock or sudden cardiac arrest. We report the case of a eight years old girl with a fulminant Influenza A-associated myocarditis with a fatal evolution despite the use of an extracorporeal membrane oxygenation (ECMO). The aim of this observation is to remind that influenza in children, usually considered as a benign illness, can exceptionally be complicated by a fulminant myocarditis. Because the possibility to recover a full myocardial function, the persistence of severe heart failure despite the medical treatment should conduct rapidly to a mechanical circulatory assistance.

[Acute myocarditis with Toxoplasma gondii. A case report in a newborn]. / Myocardite aiguë à toxoplasme. A propos d'un cas survenu chez un nourrisson.

Acute myocarditis with Toxoplasma Gondii in immunocompetent patients is rare and the paediatric cases touch old children. These myocarditis lead sometimes cardiac insufficiency and sometimes mimic a myocardial infarction. The evolution is often favorable, even when there is no pest-destroying treatment. We report a case of myocarditis toxoplasma Gondii with which has occurred in a 11 month and half old infant, whose evolution was favorable with a symptomatic and pest-destroying treatment. The interest of this observation is related to the scarcity of acute myocarditis caused by toxplasmosis in infant without immunoinsufficiency.

[Winter viral ecology in a pediatric intensive care unit: a prospective study]. / Étude prospective de l'écologie virale hivernale dans un service de réanimation pédiatrique.

INTRODUCTION: Viral respiratory infections are common in children, most of which are due to a virus. They can lead to serious infections, and these children may require treatment in a pediatric intensive care unit (PICU). This prospective study evaluated the epidemiology of respiratory viruses and associated illnesses among children hospitalized in a PICU during the three winter months of 2012-2013. METHODS: All the children admitted to the PICU, University Hospital of Caen, France, were included. Nasal swabs were collected and specimens were tested using a single real-time PCR (polymerase chain reaction). RESULTS: Of the 105 patients admitted to the PICU during the study period, 84 fulfilled the inclusion criteria. The "respiratory group" included 37 patients with respiratory symptoms at admission while the "nonrespiratory group" included 47 patients with no respiratory symptoms. The 84 nasal swabs collected included 54 that were considered positive (64.3%) and 70 viruses were detected. The most commonly detected virus was RSV (n=28; 40.0% positive samples), followed by HRV (n=24; 34.3%). Viruses were more frequently detected in the respiratory (86.5%) than in the nonrespiratory (42.6%) group (P<0.001). Statistical analysis by subgroups revealed that RSV infections were significantly more frequent in the respiratory group (54.1%) than in the nonrespiratory group (6.4%) (P<0.001). There was no difference for HRV (32.4% and 27.7%) or for the other viruses. No difference in duration of hospitalization or duration of mechanical ventilation was demonstrated depending on the virus detected. DISCUSSION: The use of the very sensitive multiplex PCR technique increased virus detection rates in both symptomatic and asymptomatic subjects. CONCLUSION: We have confirmed the frequency of RSV infections in a PICU and found that many patients without respiratory symptoms have respiratory infections caused by viruses. The impact of these infections on patient outcome should now be analyzed in order to demonstrate the role played by respiratory viruses.

Transition from normal to premutated alleles in fragile X syndrome results from a multistep process.

In fragile X syndrome, the most common cause of inherited mental retardation, phenotypic expression has been linked to a region containing a repetitive sequence, (CGG)n, that appears to lengthen dramatically in fragile X patients and to show length variation in normal individuals. In order to investigate possible mechanisms responsible for further expansion of CGG in the normal population, we selected 31 normal unrelated X chromosomes carrying either the high-risk DX204-AC155 or DX196-AC151 haplotypes, as defined by the flanking microsatellites, DXS548 and FRAXAC2. Nearly 100% of CGGs with more than 35 repeats were found on DX204-AC155 haplotypes, with a mean length significantly higher and much more variable than in normal individuals carrying other haplotypes including the high-risk haplotype DX196-AC151. These findings suggest that the transition from the normal to the abnormal range occurs by a multistep process, a primary event, such as unequal crossing-over, leading to increased size and moderate instability of the repeat, and from which DNA polymerase slippage could lead to recurrent premutations. Our results also suggest that the upper limit of the normal range is roughly 35 repeats in the fragile X gene. The 36-54 repeats range would define an intermediate allele only observed, up to now, in DX204-AC155 fragile X chromosomes.

Alagille syndrome with cavernous carotid artery aneurysm.

We present a case of right sided blindness caused by a cavernous carotid artery aneurysm in a 17-year-old patient presenting with an Alagille syndrome. The diagnosis was made by magnetic resonance imaging and confirmed by angiography. This aneurysm was treated successfully with endovascular placement of detachable balloons. Cerebral vascular malformations are rarely reported in association with this syndrome. We discuss the clinical presentation, diagnosis, treatment and detection of this type of abnormality.

The synthesis of novel 6,5- and 6,6-membered fused heterocyclic compounds derived from thymine.

Novel pyrimido[1,2-a]pyrimidinones 14, 15 and 16 and imidazo[1,2-a] pyrimidinones 19 and 20, designed as conformationally constrained analogues of 1-(3-amino-2-hydroxypropyl)thymine and 1-(2-amino-3-hydroxypropyl)thymine, respective ly, were synthesized by the ring-opening/ ring-closure rearrangement of the corresponding byciclic oxygen-containing amino compounds 12 and 17.

[Viral co-infections in immunocompetent infants with bronchiolitis: prospective epidemiologic study]. / Co-infections virales lors des bronchiolites du nourrisson immunocompétent: étude prospective épidémiologique.

The nature of viral infection was prospectively investigated in 202 immunocompetent infants with bronchiolitis. Nasal aspirates were evaluated by immunofluorescence assay, viral isolation technique and polymerase-chain-reaction-hybridization assay. In 55 infants (27%) more than one respiratory virus were detected. A Rotavirus was found in 40 infants (20%), without any relationship with the respiratory viral status, respiratory syncytial virus being the main virus (46/55), and the association of respiratory syncytial virus and adenovirus being the most frequent (21/55). No difference was found between monoviral infections on the one hand and simultaneous viral infections on the other hand according to age, weight, neonatal disease, past history of personal or familial atopy, central temperature, Silverman's index, oxygen dependency, length of hospitalization, microbiology data. There was no indication that simultaneous virus infections were associated with an increased severity of the bronchiolitis in immunocompetent infants.

[Late revealing of congenital diaphragmatic hernia: diagnostic difficulties]. / Révélation tardive de la hernie diaphragmatique congénitale: difficultés du diagnostic.

Two patients, aged four and six months, with congenital diaphragmatic hernias, and who presented outside of the neonatal period, are reported. Clinical presentation was a progressive respiratory failure, and radiographic findings showed a consolidation of the left lung, associated with a pneumothorax in one and an ascites in the other. One had previous normal chest X-rays. All cases with herniated bowel showed connecting bowel segments passing through the diaphragmatic defect. All were repaired via an abdominal approach. Delay in presentation of congenital diaphragmatic hernias is not uncommon. Long-term prognosis is favourable and postoperative morbidity is minimal, despite late presentation and undesirable time delay between first sign and surgery.

[Obstructive sleep apnea syndrome and hypertrophic tonsils in infants]. / Le syndrome d'apnées obstructives du sommeil et hypertrophie amygdalienne chez le nourrisson.

BACKGROUND: Even if failure to thrive in infants suffering from obstructive sleep apnea syndrome (OSAS) due to hypertrophic tonsils is well documented in the literature, the surgical act is often delayed due to the lack of diagnostic evidence. CASE REPORTS: We report three cases which share the common characteristic of age of onset, tonsillar hypertrophy, growth retardation and growth catch-up after tonsillectomy. Authors emphasize the importance of clinical diagnosis as a sufficient tool in making the decision of surgery, thus avoiding unnecessary and expensive investigations. CONCLUSION: The diagnosis of OSAS in infants and children is essentially clinical, depending mainly on a history provided by the parents, laying stress on nocturnal symptoms and clinical examination. Growth retardation is frequent in this syndrome and should be systematically sought. Tonsillectomy, which is effective in relieving respiratory manifestations, also allows growth recovery.

[Cardiac involvement during classic hemolytic uremic syndrome]. / Atteinte cardiaque au cours du syndrome hémolytique et urémique typique.

BACKGROUND: Cardiac involvement rarely occurs in classic hemolytic uremic syndrome (HUS); it is often fatal. CASE REPORTS: The first patient, a 21-month-old boy, developed classic HUS with acute renal failure. Peritoneal dialysis was performed for 20 days. On the 10th day of dialysis, myocardial infarction occurred, probably related to coronary thrombus. The patient was given heparin and antibiotics because of an unexplained fever. The outcome was favorable despite antero-apical cardiac necrosis, and moderated chronic renal failure. The second patient, a 24-month-old girl, also showed a classic HUS, which required peritoneal dialysis for 10 days. Dilated cardiomyopathy with cardiac failure appeared on the 4th day of dialysis, not related to the volume overload and metabolic consequences of the acute renal failure, such as systemic hypertension or ineffective dialysis. On the 5th day of dialysis neurological involvement appeared. Neurological, cardiac and renal outcome was favorable. The third patient, a 25-month-old girl, developed a classical HUS, requiring peritoneal dialysis for 25 days. No cardiac insult appeared during the acute phase of the disease. After dialysis, the child had chronic renal failure (creatinine clearance: 15 mL/min/1.73 m2). Dilated cardiomyopathy appeared 3 months later, without definite etiology. The outcome was favorable with digoxin treatment. CONCLUSION: A cardiac involvement should also be searched for in the acute phase of HUS and several months later.

[Otogenic cavernous sinus thrombophlebitis. A case report]. / Thromboses otogènes du sinus caverneux. A propos d'un cas.

OBJECTIVES: Acquire knowledge concerning the diagnosis and treatment of otogenic cavernous sinus thrombophlebitis. PATIENT AND METHODS: We report a case of otogenic cavernous sinus thrombophlebitis (CST) in a 6-year-old boy. RESULTS: CST diagnosis was based on clinical signs (septic illness, ocular nerve palsy and chemosis), and neuro-imaging confirmed the diagnosis. Contrast-enhanced CT scan demonstrates different signs: (i) filling defect or heterogeneous enhancement of cavernous sinus, (ii) cavernous sinus enlargement with bulging of the lateral wall, (iii) intensive enhancement of lateral wall corresponding to enhancement of a collateral network replacing the thrombosed cavernous veins, (iiii) and sometimes indirect orbital signs (exophthalmus, densification of the retro-orbital fat, superior ophthalmic dilatation with partial or no enhancement in case of thrombosis extension). The bacteria most frequently found are Streptococci, Streptococcus pneumoniae, Staphylococcus aureus, Gram-negative rods and anaerobes combined. The therapeutic management of CST consists of intravenous administration of appropriate antibiotics combined radical mastoidectomy if medical therapy has failed. Anticoagulant therapy is controversial. CONCLUSION: Knowledge of early diagnosis of otogenic cavernous sinus is important because prior to the antibiotic era, CST was almost always fatal. Currently, therapeutic outcome is not always favorable due to high morbidity after aggressive treatment.

[Bibliographic online data bases in the field of biomedicine]. / Bibliografske online baze podataka za podrucje biomedicine.

Because of a growing need for the selection, flow of information, and adequate application of scientific information, the presentation of the utilization of databases and their information sources is necessary. An outline of databases and the description of structure and contents of the most important databases are given. The databases are chosen according to the scope of the field they cover in order to supply users with the best possible information in the field of biomedicine. The following databases are included: Biosis Previews, Ca Search, Cancerlit, Clinical Abstracts, Consumer Drug Information Fulltext, De Haen Drug Data, Diogenes, Drug Information Fulltext, Embase, Health Planning & Administration, International Pharmaceutical Abstracts, Life Sciences Collection, Martindale Online, Medline, Mental Health Abstracts, Nursing & Allied Health, Occupational Safety and Health, Pharmaceutical News Index and Smoking and Health.

[Verapamil intoxication: beware of the delayed effect]. / Intoxication aigüe au vérapamil : attention à l'effet retard.

Intoxication with calcium channel inhibitory drugs is rare but mortality rates reach 10 %. We report the case of a 5-year-old girl who had ingested five 240-mg tablets of extended-release verapamil (VLP) and a tablet of bromazepam. Thirty hours after the ingestion she had a vasoplegic shock, heart conduction disorders, and metabolic complications. She was treated in pediatric intensive care with continuous epinephrine and insulin and recovered completely 60h after the ingestion. This case underlines the danger of calcium channel blocker overdose, increased by the extended-release mechanism: the drug effect is to slow down gastric motility - which explains the latency of the symptoms - but this also increases the drug absorption, inducing a vicious circle. These mechanisms in calcium blocker intoxication need to be kept in mind in order to decrease the mortality of such accidents.