Correction to: In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study.

The original article [1] contains errors in Table 1 affecting some of the presented oligonucleotide sequences and readthrough values in Table 1.

[Current events in vaccination]. / Actualités en matière de vaccination.

The annual meeting of the Infectious Disease Society of America (IDSA) ; which brought together nearly 5000 participants from over 80 countries in Vancouver, Canada, October 21 to 24, 2010 ; provided a review of the influenza (H1N1) 2009 pandemic, evaluated vaccination programmes and presented new vaccines under development. With 12,500 deaths in the United States in 2009-2010, the influenza (H1N1) 2009 pandemic was actually less deadly than the seasonal flu. But it essentially hit the young, and the toll calculated in years of life lost is high. The monovalent vaccines, whether live attenuated or inactivated with or without adjuvants, were well tolerated in toddlers, children, adults and pregnant women. In order to protect infants against pertussis, family members are urged to get their booster shots. The introduction of the 13-valent Pneumococcal conjugated vaccine in the beginning of 2010 may solve - but for how long ? - the problem of serotype replacement, responsible for the re-increasing incidence of invasive Pneumococcal infections observed in countries that had introduced the 7-valent vaccine. The efficacy of a rotavirus vaccine has been confirmed, with a reduction in hospitalization in the United States and a reduction in gastroenteritis-related deaths in Mexico. In the United States, vaccination of pre-adolescents against human papillomavirus (HPV) has not resulted in any specific undesirable effects. Routine vaccination against chicken pox, recommended since 1995, has not had an impact on the evolution of the incidence of shingles. Vaccination against shingles, recommended in the United States for subjects 60 years and over, shows an effectiveness of 55 %, according to a cohort study (Kaiser Permanente, Southern California). Although some propose the development of personalized vaccines according to individual genetic characteristics, the priority remains with increasing vaccine coverage, not only in infants but also in adults and the elderly. Vaccine calendars that cover a whole lifetime should be promoted, since the vaccination of adults and seniors is a determining factor of good health at all ages.

[Current events in vaccination]. / Actualités en matière de vaccination.

The annual meeting of the Infectious Disease Society of America (IDSA); which brought together nearly 5000 participants from over 80 countries in Vancouver, Canada, October 21 to 24, 2010; provided a review of the influenza (H1N1) 2009 pandemic, evaluated vaccination programmes and presented new vaccines under development. With 12,500 deaths in the United States in 2009-2010, the influenza (H1N1) 2009 pandemic was actually less deadly than the seasonal flu. But it essentially hit the young, and the toll calculated in years of life lost is high. The monovalent vaccines, whether live attenuated or inactivated with or without adjuvants, were well tolerated in toddlers, children, adults and pregnant women. In order to protect infants against pertussis, family members are urged to get their booster shots. The introduction of the 13-valent Pneumococcal conjugated vaccine in the beginning of 2010 may solve--but for how long?--the problem of serotype replacement, responsible for the re-increasing incidence of invasive Pneumococcal infections observed in countries that had introduced the 7-valent vaccine. The efficacy of a rotavirus vaccine has been confirmed, with a reduction in hospitalization in the United States and a reduction in gastroenteritis-related deaths in Mexico. In the United States, vaccination of pre-adolescents against human papillomavirus (HPV) has not resulted in any specific undesirable effects. Routine vaccination against chicken pox, recommended since 1995, has not had an impact on the evolution of the incidence of shingles. Vaccination against shingles, recommended in the United States for subjects 60 years and over, shows an effectiveness of 55%, according to a cohort study (Kaiser Permanente, Southern California). Although some propose the development of personalized vaccines according to individual genetic characteristics, the priority remains with increasing vaccine coverage, not only in infants but also in adults and the elderly. Vaccine calendars that cover a whole lifetime should be promoted, since the vaccination of adults and seniors is a determining factor of good health at all ages.

[Inaugural trunk dystonia revealing Langerhans cell histiocytosis]. / Manifestations pseudoneurologiques révélatrices d'une histiocytose langerhansienne.

Langerhans cell histiocytosis (LCH) is a multisystemic disease, which may present with neurological involvement. We report the case of a 20-month-old girl with initial liver and skin involvement. Initial symptoms were recurrent episodes of trunk dystonia, lasting approximately 2 months prior to the diagnosis of LCH. No brain MRI abnormality was demonstrated at initial work-up and over 7 years of follow-up, except for a postpituitary involvement noted after 3 years of follow-up. These episodes of dystonia subsided during the first week of specific LCH chemotherapy (vinblastine and steroid), suggesting that they may have resulted from hepatalgia related to the histiocytic infiltration of the liver.

[Vaccine prevention in perinatal health care: parents, children and professionals]. / Vaccination en périnatalité : parents, enfants, professionnels.

Recent legislative texts have changed vaccinal policy and reinforced the role of midwives in vaccine prevention in perinatal healthcare. Quite as paediatricians and obstetricians-gynecologists, midwives can now prescribe and carry out, for the mothers, vaccines against rubella, tetanus, poliomyelitis, diphtheria, hepatitis B, influenza and whooping-cough and for the newborns vaccines against hepatitis B and tuberculosis. Concerning vaccinations, practitioners have to respect the vaccination calendar and a collaborative action is useful and necessary. These national guidelines are regularly updated when new vaccines and new recommendations come to light, for example for children (papillomavirus, tuberculosis, pneumococcus...), young adults (varicella, whooping-cough) and health professions in contact with very young children (varicella, measles, influenza and whooping-cough). The recent changes in tuberculosis prevention from routine vaccination of all newborn infants to selective vaccination lead to reinforce measures to detect the infants at higher risk, for them to be vaccinated before discharge at home. Midwives and nurses occupy a central place in family policy and become, with obstetricians-gynecologists and pediatricians, key actors for the effectiveness and the success of vaccine strategies in perinatal health.

[Tonsillectomy in 2005]. / L'amygdalectomie en 2005.

During the past years, the number of tonsillectomies (only palatine tonsils are taken off) has decreased, indications for surgery have changed. A multi-disciplinal group of paediatricians tried to elaborate the state of the art in the field. Tonsils are the first line defense of high respiratory tract. The immune functions of their lymphoid tissue are multiple: mucosal antigens capture, presentation to lymphocytes, antigens specific proliferation of lymphocytes T and B, differentiation of lymphocytes in effectors lymphocytes and immune lymphocytes. Epithelial cells on the tonsils' surface express non-specific defense. These facts explain partly tonsils' hypertrophy. Tonsillectomy has no general immune consequences. In 2002, in France, 75,000 tonsillectomies were realized, of which 90% were in children. Tonsil's hypertrophy is the major indication, mandatory when sleep apnoeas exist. The main historical tonsillectomy indication for recurrent tonsillitis should decrease due to a more precise diagnostic (rapid test at bed site), an efficient antibiotics therapy and better care for pain. Other indications are scarce. Surgery, feasible from 9 months of age, requires a brief general anaesthesia and has very few contra-indications. The technique, operator dependent, relies on his experience. The only potentially severe complication is an haemorrhage due to scab fall between the eighth and twelfth days. It requires explanation and a written note given to parents. The possibility of lack of feeding and voice modification, usually transitory, should be known. Multiple consequences of tonsillectomy especially allergy have been alleged. Since the years 1980, it is well established that pre-existing allergy or asthma are not a contraindication. More, its deleterious impact on allergic children has not been demonstrated. Last, a gain of weight post-tonsillectomy is possible and could become a risk if excessive.

[A twelve-year-old teenager with bone pain and white papules]. / Douleurs osseuses et papules blanchâtres chez un adolescent de 12 ans.

Here we present a case report in which a teenager, with papules on the arm and back since the infancy, complained of back and right knee pain at the age of 12 years. The radiological examination led to the diagnosis of osteopoikilosis and melorheostosis. The Buschke-Ollendorff syndrome (BOS) associates osteopoikilosis (asymptomatic bone dysplasia) and disseminated dermatofibrosis. The BOS is rare, and its association with melorheostosis (another bone dysplasia in which pain and deformity may occur) makes the prognosis uncertain. This case report highlights the diagnosis problems related with bone pain in paediatrics. The purpose of this manuscript is to present the characteristics of two bone dysplasias: osteopoikilosis and melorheostosis, and to discuss the involvement of each one in the clinical picture of our patient.

[TNF receptor-associated periodic syndrome (TRAPS): clinical aspects and physiopathology of a rare familial disease]. / Le TNF-receptor associated periodic syndrome (TRAPS): aspects cliniques et physiopathologiques d'une maladie familiale rare.

Hereditary periodic fever syndromes are defined as recurrent attacks of generalized inflammation for which no infectious or auto-immune cause can be identified. Minimal clinical variations, a unique biochemical-specific abnormality and the mode of genetic inheritance distinguish the four main diseases: familial Mediterranean fever, hyper-immunoglobulinemia D, TNF-receptor-associated periodic syndrome (TRAPS) and Muckle Wells syndrome. It presents with prolonged attacks of fever and severe localized inflammation. TRAPS is caused by dominantly inherited mutations in the gene encoding the first TNF receptor, which result in decreased serum levels of soluble TNF-receptor leading to inflammation due to unopposed TNF-alpha action. Corticosteroid treatment is not completely effective in most TRAPS patients. Preliminary experiences with recombinant TNF-receptor analogues in the treatment appear be promising.

[Aspergillosis in cystic fibrosis patients]. / Aspergillose et mucoviscidose.

Allergic bronchopulmonary aspergillosis (ABPA) should be suspected in any CF patient whose pulmonary disease deteriorates precipitously, suddenly or unexpectedly, and has to be correlated to fungal hypersensitivity biological tests. The standard therapeutic approach is based upon systemic corticosteroids. Invasive pulmonary aspergillosis (IPA) may occur mainly but not exclusively in immunosuppressed patients undergoing lung transplantation. New antifungal compounds (Triazoles, Itraconazole, Voriconazole), Echinochandins (Caspofungin) are effective, synergistic, well tolerated, should their contraindications and side effects be carefully respected and monitored.

[Severe cutaneous Streptococcus pyogenes infections in the child: results of a multicenter survey]. / Infections cutanées sévères à Streptococcus pyogenes chez l'enfant: résultats d'une enquête multicentrique.

UNLABELLED: To assess pediatric cases of severe cutaneous infections due to Streptococcus pyogenes. Since the beginning of 1980, the incidence of cellulitis and necrotizing fasciitis due to S. pyogenes has increased in adults. Serotyping of obtained isolates are in most cases M1, M3 or M5 protein. PATIENTS AND METHOD: A retrospective (1990-2000) survey was carried out in pediatric hospital centers. RESULTS: Three cases of necrotizing fasciitis and 15 of cellulitis were observed. In 30% of the cases, vancella lesions were associated; in the other cases, minor wounds were the site of the infection. Bacteriologic diagnosis was made by local samples in 14 cases; blood cultures were positive in four cases. In 11 cases, initial intravenous treatment consisted of third generation cephalosporin, in six cases of penicillin M or G and in one case of fusidic acid. In the second time, penicillin M was perfused in the majority of the cases. Mean duration of intravenous antibiotics perfusion was 15 days. There were no sequelae or death in this survey. CONCLUSIONS: Despite this study had limited epidemiological characteristics, it confirms that these two infections are rare. The frequency is probably underestimated, due to the difficulty in performing a diagnosis. The major site of infection was the varicella lesion. These two infections are so similar that it is frequent to mistake one infection for the other. Nonsteroidal anti-inflammatory drugs and site of infections did not influence prognosis. The treatment of cellulitis is penicillinotherapy whereas in necrotizing fasciitis early major surgery is often correlated with the rate of survival.

[Marshall syndrome: results of a retrospective national survey]. / Syndrome de Marshall: résultats d'une enquête nationale rétrospective.

Marshall's syndrome or periodic fever syndrome was first described in 1987 in the USA based on observations of 12 children under the age of five with periodic fever (> 38 degrees C) and accompanying aphtous stomatitis, pharyngitis, and cervical adenopathy (PFAPA). In 1998, a national retrospective study was carried out in France by the pediatric infectious pathology group, and a semeiological analysis was made of 22 cases. The main characteristics of Marshall's syndrome found in this patient population were in agreement with those reported in the literature. The onset of symptoms occurred between the age of 3 months and 12 years, with a mean age of 5 years; no geographical or ethnic predisposing factors were noted. The diagnosis of symptoms was subsequently established at an age ranging from 5 months to 16 years, with a mean age of 6.5 years. It was determined that following an initial phase of generalized clinical manifestations (asthenia, cranial neuritis, dysphagia, anorexia), the symptoms become stereotyped, with the sudden appearance of high fever (> 40 degrees C), shivering, aphtous stomatitis, pharyngitis, and cervical adenopathy. Other symptoms such as cranial neuritis, arthralgia, and abdominal pain may also be present (50% of cases in the present study), but due to their variability of appearance they are of lesser diagnostic value. The main characteristic of Marshall's syndrome is its periodic aspect; with fever occurring every 6 to 9 weeks, with a mean interval of 66 days before recurrence of fever compared to the shorter interval of 21 to 28 days reported in the literature. After excluding the presence of an infection, the differential diagnosis includes the following: familial Mediterranean fever, hyper IgD syndrome, and feverish neutropenia. During the periods of fever, an inflammatory syndrome with hyperleucocytosis and a marked increase in C-reactive protein (CRP) levels and sedimentation rate is observed. The most effective treatment seems to be the early administration of corticoids during the initial phase, prior to the appearance of more specific symptoms. The prognosis is excellent, with a progressive decrease in the incidence of periodic fever and an absence of complications. However, the etiology of Marshall's syndrome has not yet been determined.

Characterization of inflammatory reaction in upper airways of cystic fibrosis patients.

Inflammatory cell populations have not been yet precisely evaluated in cystic fibrosis (CF) airways. We intended to characterize morphological modifications, inflammatory cell infiltration and cell proliferation in nasal tissues obtained from 15 CF patients and from 6 non-CF patients with nasal polyposis. Morphological analysis showed an intense inflammatory infiltration in CF and non-CF tissues with only few modifications in the epithelium from CF tissues. Inflammatory cell populations characterized by specific immunolabeling were quantified, showing a predominance of macrophages and T- and B-lymphocytes and only moderate numbers of neutrophils in CF tissues; in non-CF polyps, lymphocytes and eosinophils were abundant. Proliferating cell percentages quantified after proliferating cell nuclear antigen immunolabeling were 5.3+/-4.1% (mean +/- SD) in CF polyps and 3.1+/-1.2% in non-CF polyps in epithelium but were very low in lamina propria. Intense inflammation in nasal tissues from CF patients is therefore dominated by macrophages and lymphocytes rather than by neutrophils. While morphology is preserved, proliferation is high in epithelium from CF polyps. These findings should be regarded in the future for a better understanding of inflammation in CF airway disease.

MEFV-Gene analysis in armenian patients with Familial Mediterranean fever: diagnostic value and unfavorable renal prognosis of the M694V homozygous genotype-genetic and therapeutic implications.

Familial Mediterranean fever (FMF) is a recessively inherited disorder that is common in patients of Armenian ancestry. To date, its diagnosis, which can be made only retrospectively, is one of exclusion, based entirely on nonspecific clinical signs that result from serosal inflammation and that may lead to unnecessary surgery. Renal amyloidosis, prevented by colchicine, is the most severe complication of FMF, a disorder associated with mutations in the MEFV gene. To evaluate the diagnostic and prognostic value of MEFV-gene analysis, we investigated 90 Armenian FMF patients from 77 unrelated families that were not selected through genetic-linkage analysis. Eight mutations, one of which (R408Q) is new, were found to account for 93% of the 163 independent FMF alleles, with both FMF alleles identified in 89% of the patients. In several instances, family studies provided molecular evidence for pseudodominant transmission and incomplete penetrance of the disease phenotype. The M694V homozygous genotype was found to be associated with a higher prevalence of renal amyloidosis and arthritis, compared with other genotypes (P=.0002 and P=.006, respectively). The demonstration of both the diagnostic and prognostic value of MEFV analysis and particular modes of inheritance should lead to new ways for management of FMF-including genetic counseling and therapeutic decisions in affected families.

Interest of colchicine for the treatment of cystic fibrosis patients. Preliminary report.

Cystic fibrosis (CF) lung disease is characterized by persistent inflammation. Antiinflammatory drugs, such as corticosteroids and ibuprofen, have proved to slow the decline of pulmonary function although their use is limited because of frequent adverse events. We hypothesized that colchicine could be an alternative treatment because of its antiinflammatory properties and upregulatory effect on cystic fibrosis transmembrane regulator (CFTR) closely related proteins. We herein present results obtained in an open study of eight CF children treated with colchicine for at least 6 months. Clinical status was better in all patients and respiratory function tests significantly improved in five. Median duration of antibiotherapy decreased significantly. These preliminary results support our hypothesis of a beneficial effect of colchicine in CF patients and stress the need for a controlled therapeutic trial.

Incidence of primary ciliary dyskinesia in children with recurrent respiratory diseases.

The goal of the study was to evaluate the incidence of primary ciliary dyskinesia (PCD) in children suffering from recurrent respiratory tract infections (RRIs) by means of noninvasive method. Respiratory ciliated cells were collected by nasal brushing in 118 children (4.6 +/- 2.5 years) with RRIs. The ciliary beat frequency (CBF) was measured with a stroboscopic method, and when the CBF was abnormal, the ciliary ultrastructure was analyzed by a quantitative method. The CBF could be measured in 106 patients (90%) and was abnormal in 15 patients. The ciliary ultrastructure was found to be abnormal in 11 of 15 patients: PCD was diagnosed in 6 cases, and acquired ciliary defects were observed in the remaining 5 patients. Our conclusion, that PCD is rare but net exceptional (5.6%) in children with RRIs, justifies the systematic investigation of ciliated cells in such patients. For this purpose, nasal brushing can be used to sample ciliated cells even in young children.

[Endoscopic endonasal ethmoidectomy in severe sinusitis of cystic fibrosis. Mid-term results in 12 patients]. / L'ethmoïdectomie endonasale endoscopique dans les sinusites invalidantes de la mucoviscidose. Résultats à moyen terme chez 12 patients.

UNLABELLED: Sinusitis, with sometimes severe symptoms, are frequent in cystic fibrosis (CF). The aim of this mild-term retrospective study was to evaluate the functional and anatomical results of functional endoscopic ethmoidectomy (FEE) in 12 patients with CF. Nasal polyposis (9 cases) and medialization of the nasomaxillary wall (3 cases) were detected during endoscopic examination. Bilateral and multifocal opacities of the paranasal sinuses were present on the CT-scan images in all cases. A FEE was performed in 11 cases and in 1 case, only the anterior ethmoid was opened. Symptoms improved or disappeared in 9/12 cases between 1 and 3 years of follow-up and in 5/7 cases after 3 years of follow-up. A good or mild anatomical result was recorded in 6/12 cases between 1 and 3 years of follow-up and in 5/7 cases after 3 years of follow-up. During follow-up, a new surgical procedure (limited in 8 patients and complete in 3 patients) was often necessary. CONCLUSION: It is reasonable to propose FEE in CF patients with chronic sinusitis presenting severe symptoms with the aim of a substantial functional but not anatomical improvement.

Interstrain variations in the cytomegalovirus (CMV) glycoprotein B gene sequence among CMV-infected children attending six day care centers.

Using the shell vial assay and sequence analysis of a variable region of the glycoprotein B (gB) gene, cytomegalovirus (CMV) excretion rates in urine and virus transmission were studied among 93 children from six day care centers (DCCs). During a 6-month period, excretion rates differed significantly between DCCs (P < .001). The 6 gB gene sequences, obtained from 24 CMV-infected children, were classified in four previously defined groups. In five DCCs, 2 or 3 strains cocirculated, and none was dominant. Infection could have been acquired outside the DCC for 2 children and inside it for 9. Two children from the same DCC had mixed infections. No differences in hygiene, child care practices, or experience and level of qualification of the staff could explain this wide variety of excretion rates between DCCs. The distribution of gB gene patterns observed does not suggest that 1 type was dominant or more efficiently transmitted.

Interaction of macrolides with alpha dornase during DNA hydrolysis.

Since patients with cystic fibrosis are often treated with alpha dornase to reduce sputum viscosity, and because of preliminary reports of efficacy of long-term low-dose erythromycin therapy in chronic airway diseases, it is likely that alpha dornase and macrolides might be given together in such patients. A possible interaction between these drugs was therefore investigated. Using hyperchromic effect to quantify alpha dornase activity, a time- and dose-dependent inhibitory effect on human DNA hydrolysis has been observed for erythromycin, roxithromycin and azithromycin. Inhibitory doses 50% for alpha dornase were graphically determined. Azithromycin exhibited the strongest inhibitory effect.