Down syndrome (DS) is the most common chromosomal anomaly in humans. Numerous congenital malformations associated with DS have been described. However, there are insufficient data available about airway anomalies. Our objective was to characterize the clinical presentation, frequency, and type of airway anomalies in a population of patients with DS. A retrospective evaluation of flexible bronchoscopies performed in 24 DS patients due to significant respiratory morbidity was compared to the findings in 324 non-DS patients during the same time period. The procedure was carried out under sedation, using an Olympus BF3C20 bronchoscope. The main indications for the procedure were atelectasis of the right upper lobe (12/24) and stridor (7/24). The most common associated conditions were congenital heart disease (12/24) and reactive airways disease (12/24). The most important endoscopic findings were: laryngomalacia (12/24), tracheomalacia (8/24), tracheal bronchus (5/24), and bronchomalacia (5/24). Only six patients had a normal examination. Multiple airway anomalies (>/=2) were a common finding in this series. We conclude that patients with DS and respiratory symptoms have a high incidence of airway anomalies compared to non-DS patients. The clinician should have a high index of suspicion for airway anomalies in DS patients with respiratory symptoms.
The antithrombin A384S mutation has a relatively high frequency in the British population but has not been identified in other populations. This variant has been associated with cases of thrombotic disease, but its clinical relevance in venous thrombosis remained unclear. We have conducted a secondary analysis of the prevalence of the mutation in a large case-control study, including 1018 consecutive Spanish patients with venous thromboembolism. In addition, we evaluated its functional consequences in 20 carriers (4 homozygous). This mutation, even in the homozygous state, did not affect anti-Xa activity or antigen levels, and it only slightly impaired anti-IIa activity. Thus, routine clinical methods cannot detect this anomaly, and, accordingly, this alteration could have been underestimated. We identified this mutation in 0.2% of Spanish controls. Among patients, this variant represented the first cause of antithrombin anomalies. Indeed, 1.7% patients carried the A384S mutation, but 0.6% had any other antithrombin deficiency. The mutated allele was associated with an increased risk of venous thrombosis with an adjusted OR of 9.75 (95% CI, 2.2-42.5). This is the first study supporting that antithrombin A384S mutation is a prevalent genetic risk factor for venous thrombosis and is the most frequent cause of antithrombin deficiency in white populations. (Blood. 2007;109: [4258][4259][4260][4261][4262][4263]
We enrolled 30 infants (median age 3 months, range 1-12 months), hospitalized for bronchiolitis in a randomized double-blind trial, to examine the efficacy and safety of nebulized epinephrine compared to salbutamol. Once admitted, patients were treated with either nebulized 0.5 mg of an 0.1% epinephrine solution (0.5 mL in 3.5 mL normal saline (NS)) or 2.5 mg nebulized salbutamol (0.5 mL in 3.5 mL NS). They were evaluated daily before and after nebulization until discharge. The outcome measures used were: baseline clinical score (based on respiratory rate, subcostal retraction, presence of wheezing, and O2 requirement), change in clinical O2 score after nebulization, duration of O2 therapy, and duration of hospitalization. A significant improvement in the clinical score was noted on the first day of hospitalization in subjects receiving epinephrine (P = 0.025); that change was not seen in those on salbutamol (P = 0.6). Nebulized epinephrine decreased the baseline clinical score faster than salbutamol (P = 0.02), though on the fourth study day there was no significant difference between the two scores. On the fourth and fifth days of study there were more patients hospitalized in the salbutamol group than in the epinephrine group (P = 0.03 vs. P = 0.025). No adverse effects were associated with nebulized therapy. We conclude that nebulized epinephrine is a more effective agent than salbutamol in the initial treatment of bronchiolitis and is equally safe.
To investigate the effect of age and body size on normal lung sounds, we studied 10 newborn infants within 3 d after birth, nine children between 6 to 8 yr, and 10 adults between 25 and 37 yr of age. Lung sounds were recorded with a contact transducer over the posterior right lower lobe, and air flow was measured at the mouth. Computer analysis provided average power spectra of lung sounds at flows of 15 ml/s/kg. In children and adults measurements were also made at flows of 30 ml/s/kg. Lung sounds were referenced to background noise, measured at zero air flow. The spectra in infants contained less power below 300 Hz compared with children and adults, resulting in significantly higher quartile and spectral edge frequencies. Resonances of the thoracic cavity may explain some of the differences among the study groups. Sound attenuation above 300 Hz was similar at all ages. At increased air flows, lung sounds in children and adults were above background noise at frequencies as high as 2,000 Hz. High-frequency expiratory lung sounds of low intensity were present in all children and in eight of 10 adults at increased flows. Normal lung sounds of low intensity are present above traditionally accepted frequency limits and warrant further investigation.
Background: Malaria has traditionally been a major endemic disease in Equatorial Guinea. Although parasitaemia prevalence on the insular region has been substantially reduced by vector control in the past few years, the prevalence in the mainland remains over 50% in children younger than five years. The aim of this study is to investigate the risk factors for parasitaemia and treatment seeking behaviour for febrile illness at country level, in order to provide evidence that will reinforce the EG National Malaria Control Programme.
We evaluated the effectiveness of the Home Care Program of Children's Hospital of Winnipeg for ventilator-dependent children by retrospectively examining morbidity and mortality from February 1, 1979, to July 31, 1992. For the 22 study subjects, the cause of chronic respiratory failure was neurologic disorders for 14 (64%) (group A) and pulmonary disorders for eight (36%) (group B). There were no significant differences between groups A and B in the average number of hospital days, readmission rate, or length of stay per admission. Eleven patients have remained ventilator-dependent at home, four no longer require mechanical ventilation, and seven died. Factors such as diagnosis, type of family, home location, age at initiation of mechanical ventilation, and initial duration of hospital stay did not influence morbidity or mortality in either group. Within the overall mortality rate of 32% is a higher rate among patients whose disorders initially carried a poor prognosis. Ventilator-dependent children can be successfully managed at home, with few nonelective hospital readmissions, through a well-organized home care program.
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