Summary Objectives Assess the quality of the diagnosis of acute otitis media (AOM) given by general practitioners (GPs) on a daily basis and compare it with the diagnosis of ear, nose and throat ...specialist (ENTS) which is considered as the gold standard. Methodology Every GP had to include six children aged 1–4 years for whom he suspected or diagnosed that they were suffering from AOM. Parents had to accept to see the ENTS participating in the survey within 48 h. Results Twenty-four GPs took part in the survey and included at least one child, which amounts to a final 57% acceptability rate. Two hundred and eight eardrums were included in the survey. 21.9% of assumptions or diagnosis's of AOM (30/137) were declared null by the ENTS. GPs diagnose AOM without any doubt only in 54% of all cases. The diagnosis and the assumption of AOM were respectively confirmed in 83.8% of all cases and 71.4% by the ENTS. The combination of redness and bulge, and isolated redness accounted for respectively 44.3% and 26.2% of the main otoscopical factors reminiscent of the AOM according to GPs. In the case of redness and bulge, the diagnosis was confirmed in 83% of all cases by the ENTS as opposed to 75% regarding the isolated redness. An AOM was suspected in 57.1% of the eardrums barely or not visible or without any sign of infection and not confirmed in 25% of all cases. Conclusion The global over diagnosis is 21.9% and 25% when the otoscopy is hindered by the presence of cerumen or when the eardrums are only inflammatory. Even though the over diagnosis is inferior to the one mentioned in published writings, post-graduate teaching on the various cerumen removal techniques and the use of pneumatic otoscopy could contribute to improving the quality of diagnosing AOM.
Drug-resistant tuberculosis (DR-TB) is increasing worldwide and may be a source of diagnostic and therapeutic problems in young exposed children. In France exposed children are systematically treated ...with 3-month isoniazid-rifampicin prophylaxis.
To describe the characteristics and management of children aged <2 years in contact with an adult case of DR-TB in France over a 5-year period (2004-2008).
Children were retrospectively identified by sending questionnaires to all the members of the Paediatric Infectious Diseases Group and the Paediatric Pulmonology Group of the French Paediatric Society.
Ten children, all infants, in contact with an adult case of DR-TB were identified: six cases of DR-TB (mean age 4.6 months), one case of TB infection and three cases of exposure (mean age 3.1 months). The children were mainly in contact with poly- or multidrug-resistant TB. Time to initiation of appropriate treatment was 39 days for TB disease and 58 days for TB infection or exposure. One child with TB infection developed TB disease due to failure to adapt prophylaxis. Treatment was variable and centre-dependent. Short-term follow-up showed complete recovery of all children.
Management of young children in contact with adult DR-TB requires rapid identification of the drug resistance profile. Molecular techniques should be used to reduce delays in initiating appropriate treatment.
To assess reliability of the diagnosis of Acute Otitis Media (AOM) given by General Practitioners (GPs) compared with the diagnosis of Otorhinolaryngologists (ORLs) considered as the reference ...diagnosis.
Every GP had to include 6 children aged 1 to 4 years for whom he suspected or diagnosed AOM. Parents had to accept to consult the ORL participating in the survey within 48 h.
24 GPs took part in the survey and included at least 1 child, which amounts to a final 57% acceptability rate. Two hundred and eight eardrums were included in the survey. 21.9% of assumptions or diagnosis of AOM (30/137) were declared null by the ORL. GPs diagnose AOM with certainty only in 54% of all cases. The diagnosis and the assumption of AOM were respectively confirmed in 83.8% of all cases and 71.4% by the ORL. The combination of redness and bulge and isolated redness accounted for respectively 44.3% and 26.2% of the main otoscopical factors reminiscent of the AOM according to GPs. In the case of redness plus bulge, the diagnosis was confirmed in 83% of all cases by the ORL as opposed to 75% regarding the isolated redness. AOM was suspected in 57.1% of the eardrums little or not visible with no sign of infection and was not confirmed in 25% of all cases.
The global overdiagnosis was 21.9% and 25% when the otoscopy is hindered by the presence of cerumen or when the eardrums show inflammation alone. Even though the overdiagnosis was lower than the reported one in literature, post-graduate teaching on the various cerumen removal techniques and the use of pneumatic otoscopy should contribute to improve the quality of diagnosing AOM.
Summary
Newborn screening (NBS) of cystic fibrosis (CF) was implemented throughout the whole of France in 2002, but it had been established earlier in three western French regions. It can reveal ...atypical CF with one or two known CFTR mild mutations, with an uncertain evolution. The sweat test can be normal or borderline. In Brittany, from 1989 to 2004, 196 CF cases were diagnosed (1/2885 births). The incidence of atypical CF diagnosed by NBS is 9.7% (19 from 196). The outcome of 17 (2 lost of view) has been studied, with 9 other atypical CF cases diagnosed by NBS in two other regions. The follow‐up period extends from 0.25 to 19.8 years (NBS implemented in Normandy in 1980) with mean age 4.6 years. The most frequent mild mutation is R117H ISV8−7T (50%). At the time of the last visit, nutritional status is normal. All these CF patients are pancreatic sufficient. Only one patient exhibits respiratory infections, whereas 7 others have them intermittently. Two of them had intermittent Pseudomonas aeruginosa colonization at 2.8 and 6.5 years. Mean Shwachman score is 96.7, mean Brasfield score is 22.8. Eight children have had lung function tests (mean follow‐up of 10 years): mean FVC was 99% of predicted, mean FEV1 101%, but one of them has FEV1 of 48%. Predicting the phenotype of these atypical CF patients remains difficult, thus complicating any genetic counselling. A regular clinical evaluation is necessary, if possible by a CF unit, because CF symptoms may appear later.
Burgel P‐R, Fajac I, Hubert D, Grenet D, Stremler N, Roussey M, Siret D, Languepin J, Mely L, Fanton A, Labbé A, Domblides P, Vic P, Dagorne M, Reynaud‐Gaubert M, Counil F, Varaigne F, Bienvenu T, ...Bellis G, Dusser D. Non‐classic cystic fibrosis associated with D1152H CFTR mutation.
Background: Limited knowledge exists on phenotypes associated with the D1152H cystic fibrosis transmembrane conductance regulator (CFTR) mutation.
Methods: Subjects with a D1152H allele in trans with another CFTR mutation were identified using the French Cystic Fibrosis Registry. Phenotypic characteristics were compared with those of pancreatic insufficient (PI) and pancreatic sufficient (PS) cystic fibrosis (CF) subjects in the Registry (CF cohort).
Results: Forty‐two subjects with D1152H alleles were identified. Features leading to diagnosis included chronic sinopulmonary disease (n = 25), congenital absence of the vas deferens (n = 11), systematic neonatal screening (n = 4), and genetic counseling (n = 2). Median age at diagnosis was 33 interquartile range (IQR, 24–41) years in D1152H subjects. Median sweat chloride concentrations were 43.5 (39–63) mmol/l in D1152H subjects and were markedly lower than in PI and PS CF subjects (p < 0.05). Bronchiectasis was present in 67% of D1152H subjects, but Pseudomonas aeruginosa colonization and pancreatic insufficiency were present in <30% of subjects. Estimated rates of decline in forced expiratory volume in 1 s (FEV1) were lower in D1152H subjects vs PI CF subjects (p < 0.05). None of the D1152H subjects identified since 1999 had died or required lung transplantation.
Conclusions: When present in trans with a CF‐causing mutation, D1152H causes significant pulmonary disease, but all subjects had prolonged survival.
Neonatal screening for cystic fibrosis has been a subject of debate over the past few years. This study assesses 10 years of neonatal screening in Brittany, France, and examines its impact on ...prenatal screening of subsequent pregnancies in couples with an affected child.
The study included all the neonates screened for cystic fibrosis in Brittany from Jan 1, 1989, to Dec 31, 1998. The screening consisted of an immunoreactive trypsinogen assay from dried blood spots, plus, from 1993, mutation analysis. Data were collected on incidence of cystic fibrosis, and genotypic and biochemical characteristics. The use of prenatal screening of subsequent pregnancies in affected families was also investigated.
Of the 343 756 neonates screened, 118 children with cystic fibrosis were identified, giving an incidence of one in 2913. All mutated alleles were characterised: 34 different mutations resulting in 36 genotypes were detected. The introduction of DNA analysis into the protocol greatly reduced the recall rate and increased the sensitivity of the test. The mean cost of the screening programme was US$2·32 per screened child. 39 (34%) of the families identified by neonatal screening opted for subsequent prenatal diagnosis at least once. 12 couples would have benefited from this procedure while their first child was still symptom-free. 42 healthy children were born, and 18 pregnancies were terminated (therapeutic abortion rate of 100%).
We have shown the feasibility of neonatal screening for cystic fibrosis in Brittany. Through the detection of a large range of mutations, neonatal screening provides the opportunity for more reliable prenatal diagnosis and cascade screening. The neonatal screening programme described here could provide a good model for other countries intending to initiate such a scheme.
Évaluer la qualité du diagnostic d'otite moyenne aiguë (OMA) établi par les médecins généralistes (MG) en le comparant au diagnostic de l'otorhinolaryngologiste (ORL) considéré comme étant le ...diagnostic de référence.
Chaque MG devait inclure les 6 premiers enfants âgés de 1 à 4 ans pour lesquels il suspectait ou posait le diagnostic d'OMA. Les parents devaient accepter de voir l'ORL participant à l'étude dans les 48 heures.
Vingt-quatre MG ont participé en incluant au moins 1 enfant soit une acceptabilité finale de 57
%. Deux cent huit tympans ont été inclus dans l'étude. 21,9
% des suspicions ou diagnostics d'OMA (30/137) ont été infirmés par l'ORL. Les MG ont établi le diagnostic d'OMA avec certitude uniquement dans 54
% des cas. Le diagnostic et la suspicion d'OMA ont été respectivement confirmés dans 83,8
% et 71,4
% par l'ORL. L'association rougeur et bombement et la rougeur isolée ont représenté respectivement 44,3
% et 26,2
% des aspects otoscopiques évocateurs d'OMA selon les MG. Devant l'aspect rouge et bombé du tympan, le diagnostic a été confirmé dans 83
% des cas par l'ORL contre 75
% devant l'aspect rouge isolé. Une OMA a été suspectée sur 57,1
% des tympans peu ou non visibles et non confirmée dans 25
% de ces cas.
Le diagnostic par excès global a été de 21,9
% et de 25
% lorsque l'otoscopie avait été rendue difficile par la présence de cérumen ou lorsque les tympans étaient seulement inflammatoires. Un enseignement postuniversitaire sur l'apprentissage des diverses techniques d'ablation du cérumen et l'utilisation de l'otoscopie pneumatique devraient contribuer à l'amélioration de la qualité du diagnostic d'OMA.
To assess reliability of the diagnosis of Acute Otitis Media (AOM) given by General Practitioners (GPs) compared with the diagnosis of Otorhinolaryngologists (ORLs) considered as the reference diagnosis.
Every GP had to include 6 children aged 1 to 4 years for whom he suspected or diagnosed AOM. Parents had to accept to consult the ORL participating in the survey within 48 h.
24 GPs took part in the survey and included at least 1 child, which amounts to a final 57% acceptability rate. Two hundred and eight eardrums were included in the survey. 21.9% of assumptions or diagnosis of AOM (30/137) were declared null by the ORL. GPs diagnose AOM with certainty only in 54% of all cases. The diagnosis and the assumption of AOM were respectively confirmed in 83.8% of all cases and 71.4% by the ORL. The combination of redness and bulge and isolated redness accounted for respectively 44.3% and 26.2% of the main otoscopical factors reminiscent of the AOM according to GPs. In the case of redness plus bulge, the diagnosis was confirmed in 83% of all cases by the ORL as opposed to 75% regarding the isolated redness. AOM was suspected in 57.1% of the eardrums little or not visible with no sign of infection and was not confirmed in 25% of all cases.
The global overdiagnosis was 21.9% and 25% when the otoscopy is hindered by the presence of cerumen or when the eardrums show inflammation alone. Even though the overdiagnosis was lower than the reported one in literature, post-graduate teaching on the various cerumen removal techniques and the use of pneumatic otoscopy should contribute to improve the quality of diagnosing AOM.
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