Surfactant protein C gene (SFTPC) mutation-associated lung disease: high-resolution computed tomography (HRCT) findings and its relation to histological analysis.

AIM OF THE STUDY: Determine high-resolution tomography (HRCT) scan characteristics in children with SFTPC mutation and correlate them to histological findings. PATIENTS AND METHODS: This retrospective multicenter study included 15 children (7 females and 8 males) with SFTPC mutations. HRCT scans have been performed in all the children and lung biopsies in 8 children. RESULTS: From all signs assessed on initial HRCT scans, ground-glass opacities (n =14, 93%) and lung cysts (n = 6, 40%) were predominant. Interlobular septal thickening (n = 1, 7%), air space consolidation (n = 1, 7%), paraseptal emphysema (n = 2, 13%), and pulmonary nodules (n = 1, 7%) were also found. Histological analysis revealed accumulation of macrophages in the alveolar lumen, type II pneumocyte hyperplasia, and alveolar septal thickening. Dilatation of the respiratory bronchiole and alveolar duct associated with muscular hyperplasia were also described. Interestingly, lung cysts on HRCT scans were associated with dilatation of terminal bronchioli and alveolar duct in lung biopsies. CONCLUSION: In children with SFTPC mutations, HRCT scan finding was highly correlated to the histological findings and, as such, represent a useful tool to identify patients that may require SFTPC gene sequencing.

Emergency management and conservative surgery of ovarian torsion in children: a report of 40 cases.

INTRODUCTION: The authors describe and discuss the clinical and therapeutic features of 40 ovarian torsions (OT) in children with its urgent treatment that has advanced in recent years. MATERIALS AND METHODS: A retrospective study of 40 cases of OT in 38 children under 16 years of age, excluding adnexal torsions in neonates. RESULTS: Abdominal and/or pelvic pain was the presenting symptom ; 8 of these children had pain between 2 to 9 months prior to surgery and 27/40 (67.5%) had associated vomiting. Before the procedure, ultrasound (US) diagnosed 29 ovarian lesions, related to 14 mature teratomas (MTE) and 10 cystadenomas (CA), one association of MTE and CA in the same ovary, 2 functional cysts and 2 malignant neoplasms. 19/40 torsions could benefit from conservative management. Eleven torsions occurred, 10/11 of these ovaries had an increased volume, and 5/11 had US evidence of small subcortical cysts. Three detorsions with incomplete removal of CA were followed by enlargement of the tumor and re-torsion in 2 of them. Five children had bilateral ovarian pathology which led to unilateral ovariectomy, while the other benefited from conservative treatment. CONCLUSIONS: In any girl presenting with abdominal pain, the diagnosis of an ovarian torsion must be considered. US is performed emergently, but only surgery, most often a laparoscopic procedure, assures diagnosis. The treatment of the torsion is an emergency and must be as conservative as possible in order to preserve the ovarian function. Bilateral torsions are not unusual.

[Cervical tumefaction in a teenager with cystic fibrosis]. / Tuméfaction cervicale chez une jeune fille atteinte de mucoviscidose.

Lobular emphysema and soft-tissue emphysema can exceptionally complicate malnutrition. We report the case of a teenager presenting malnutrition with cystic fibrosis and anorexia nervosa with soft-tissue emphysema.

[Multislice thoracic CT scanner]. / Scanner thoracique multibarette.

The scanner, or computed tomography, is the reference imaging test for most thoracic diseases in both adults and children. It has gone through tremendously rapid technological progress over the last few years with the appearance of multirow (or multidetector or multislice) scanners. This technology currently provides volume acquisition of a child's thorax in 2-5 s. These technological advances are particularly useful for exploring airway diseases, largely because of the range of reconstruction possibilities (maximum and minimum intensity projection, volume rendering, virtual endoscopy), which offer advantageous perspectives in pediatrics. Multiplanar imaging and above all three-dimensional imaging provide a totally original analysis in space of the sometimes complex relations between vascular and airway structures, making it possible to understand certain extrinsic bronchial compression mechanisms more precisely. The present study briefly reviews the technical aspects of the thoracic scanner in children and illustrates its role today in volume CT in childhood thoracic diseases using clinical examples taken from our daily practice.

[Multislice CT scan in congenital heart disease]. / Le scanner volumique dans les cardiopathies congénitales.

The management of congenital cardiovascular malformations is a diagnostic challenge. It requires accurate assessment of the intra- and extra-cardiac malformations. Three-dimensional imaging by the multislice CT scanner is now a routine investigation for congenital heart disease, complementary to echocardiography, and, increasingly, an alternative to conventional angiography. Three dimensional imaging is particularly useful in the diagnosis of complex congenital heart disease, in the preparation of complex investigations of interventional cardiac catheterisation and the postoperative evaluation of surgical repair. This report describes the different acquisition protocols adapted for children and illustrates the present role of volumic CT scanner in congenital heart disease by clinical examples of everyday clinical practice.

Prenatal diagnosis of pulmonary sequestration using three-dimensional power Doppler ultrasound.

OBJECTIVE: To investigate the contribution of three-dimensional power Doppler ultrasound to the prenatal diagnosis of pulmonary sequestration. METHODS: Prenatal three-dimensional power Doppler ultrasound was used to screen for an abnormal pulmonary blood supply in eight fetuses with hyperechogenic lung lesions and to image the pulmonary blood supply in 50 normal controls. A comparison was made with postnatal findings. RESULTS: Postnatally the eight pulmonary lesions were found to be an isolated pulmonary sequestration (n = 3), a microcystic congenital adenomatoid malformation (n = 4), and a mixed (macrocystic and microcystic) congenital adenomatoid malformation (n = 1). Prenatal three-dimensional power Doppler ultrasound demonstrated an abnormal blood supply in all cases of pulmonary sequestration and in none of the other cases. Among the three cases that turned out to be pulmonary sequestrations, conventional two-dimensional ultrasound failed to identify the feeding vessel in one case and identified it at a later stage of gestation than did three-dimensional power Doppler in the other two. CONCLUSION: Prenatal three-dimensional power Doppler ultrasound may be useful in identifying the feeding vessel and thus establishing the diagnosis of pulmonary sequestration in the presence of a hyperechogenic pulmonary lesion, allowing its differentiation from congenital cystic adenomatoid malformation.

Vascular ring abnormalities: a retrospective study of 62 cases.

BACKGROUND: The authors analyzed clinical signs of vascular ring anomalies together with appropriate complementary examinations and factors predictive of outcome after surgical treatment. METHODS: The authors reviewed the files of 62 patients with vascular ring abnormalities treated at Necker-Enfants Malades Hospital between January 1990 and January 2000, to analyze age at symptom onset, results of paraclinical examinations, the type of vascular ring abnormality, the surgical indications and type of surgery, and postoperative outcome. Outcomes were divided into 3 categories: cure, partial improvement, and no improvement. The chi2 test corrected with Fischer's Exact test was used for statistical analysis. RESULTS: Vascular ring abnormalities were diagnosed at birth in 28% of cases and during the first year of life in 68%. Sixteen percent of patients had associated abnormalities. Recurrent pulmonary and bronchial infections occurred after one year of age. An esophagogram was done in 76% of cases and showed impression images. Endoscopy was done in 63% of cases and showed malacia in 41% of patients and stenosis in 51%. Fifty-eight children were treated surgically. The average hospital stay was 7.4 days. The average follow-up was 37.4 months (12 to 159 months). Complete improvement was obtained in 68% of cases, partial improvement in 17%, and no improvement in 15%. Preoperative malacia was more frequent in patients with partial improvement or no improvement. CONCLUSIONS: Surgical treatment of congenital vascular ring abnormalities is effective and safe. Complications are rare. Prognostic factors include the quality of preoperative preparation of respiratory function, the type of abnormality, and the degree of malacia.

Intellectual prognosis of the Dandy-Walker malformation in children: the importance of vermian lobulation.

Half of patients with the Dandy-Walker malformation (DWM) have normal intellectual development. We aimed to identify feature on MRI associated with good intellectual prognosis. We reviewed 20 patients with DWM diagnosed on MRI, mean age 14.6+/-9.9 years. We assessed their intellectual development and related it to the MRI features. We found two groups with a statistically different intellectual outcome. All 14 patients with normal intellectual development had a normal lobulation of the vermis, without supratentorial anomalies. Of the six patients with mental retardation, three had an abnormal vermis, together with dysgenesis of the corpus callosum. In the other three, there were normal vermian anatomy with associated anomalies. Normal lobulation of the vermis, in the absence of any supratentorial anomaly, appears to be a good prognostic factor in DWM. Preservation of cerebrocerebellar pathways and neonatal plasticity could explain the normal intellectual development. These findings might be useful in prenatal diagnosis.

Metrorrhagia and precocious puberty revealing primary hypothyroidism in a child with Down's syndrome.

We report a child with Down's syndrome in whom metrorrhagia and precocious puberty revealed primary autoimmune hypothyroidism. The patient had a decreased growth velocity, exaggerated weight gain, bone age delay, and bilaterally enlarged multicystic ovaries. Delays in the diagnosis and treatment of hypothyroidism can lead to this peculiar presentation.

[Facial cellulite associated with mandibular osteomyelitis in an infant]. / Cellulite faciale révélatrice d'une ostéomyélite mandibulaire chez un nourrisson.

INTRODUCTION: The discovery of a jugular tumefaction in an infant evokes several diseases. We report the case of a 4-month-old infant whose jugular cellulite revealed mandibular osteomyelitis. CASE REPORT: A 4-month-old boy was referred for hard, hot tumefaction of the right cheek and multiple cervical adenopathies. The suggested diagnosis was cellulite of cutaneous origin. He presented 21 900/mm(3) hyperleukocytosis associated with an inflammatory biological syndrome. Standard x-ray of the facial mass was normal. Sonography of the face showed thickening of the soft subcutaneous tissues and retro and sub-mandibular adenopathies with abcedation. Antibiotherapy with amoxicillin and clavulanic acid led to rapid improvement. Three days after withdrawal of the antibiotherapy, the tumefaction recurred without fever. A facial scan eliminated cystic lymphangioma and showed osteolysis of the external plateau of the ascending branch of the mandible with periosteal appositions. Histological examination of a surgical bone biopsy showed infectious osteitis and culture revealed hemolytic beta streptococci. Six weeks of antibiotherapy (initially with amoxicillin and gentamycin, then amoxicillin in monotherapy) led to the regression of all cutaneous signs. COMMENTS: When confronted with a tumefaction in this area, malignant or benign tumoral causes such as cystic lymphangioma must be eliminated. Infectious causes (abscess, parotid inflammation and osteomyelitis) must be evoked and distinguished from infantile cortical hyperostosis (Caffey-Silverman's syndrome). Standard radiological imaging, scan or scintigraphy are useful diagnostic tools. If osteolysis is discovered, a biopsy must be taken for anatomopathological and biological examination.

Instant vertebral assessment: a noninvasive dual X-ray absorptiometry technique to avoid misclassification and clinical mismanagement of osteoporosis.

The presence of a vertebral fracture significantly increases the risk of future fracture, classifies a patient with "clinical" osteoporosis, and usually results in treatment for osteoporosis. However, the majority of vertebral fractures are silent, and lateral X-rays (the standard method for identification) are not routinely obtained. Instant vertebral assessment (IVA), a technology that utilizes dual X-ray absorptiometry (DXA), provides rapid assessment of vertebral fractures and is highly correlated with vertebral fractures, as assessed on standard lateral spine X-rays. To assess the role of IVA in patient management, we examined standard bone mineral density (BMD) of the spine, total hip, and femoral neck and spine IVA by DXA in 482 participants screened for an osteoporosis study, who had no previous knowledge of vertebral fractures. Using World Health Organization (WHO) guidelines, subjects were classified using BMD at the spine, total hip, femoral neck, or any combination of these central sites. In addition, we considered subjects as osteoporotic if they had vertebral fractures independent of low bone density. We found that vertebral fractures assessed by IVA were present in 18.3% of asymptomatic postmenopausal women recruited for this study. The sensitivity of BMD alone to diagnose osteoporosis based on either a vertebral fracture or low BMD using WHO criteria ranged from 40 to 74%. This means that between 26 and 60% of osteoporotic individuals could have potentially been missed. Furthermore, 11.0-18.7% of clinically osteoporotic individuals would have been classified as normal by BMD criteria alone. We conclude that IVA is a useful adjunct in the clinical identification of osteoporosis and may prevent mismanagement of osteoporotic patients.

Why do older women discontinue hormone replacement therapy?

Postmenopausal women who choose hormone replacement therapy (HRT) often discontinue this therapy within 1 year. Few studies have considered why older women (aged > or =65 years) discontinue therapy. To investigate this question and its relationship to HRT-related side effects, we analyzed data collected during the 3-month open-label (active HRT and alendronate placebo) run-in phase of a clinical trial for osteoporosis prevention and treatment in older women. Among women discontinuing the trial, we ascertained a primary reason based on the patients' records and classified it as related or unrelated to HRT. The incidence of specific HRT-related side effects reported during the run-in phase was abstracted from the trial database and compared between patients continuing in the trial and those discontinuing for HRT-related reasons. Of the 485 women who began the 3-month run-in phase, 112 (23%) discontinued the trial. Specifically, 73 (15%) women discontinued for reasons considered HRT related. Breast swelling/tenderness (26 women) and bloating (9 women) were more often primary reasons for discontinuation than were bleeding or spotting (7 women). Comparing all reported side effects, bloating was more common in women discontinuing because of HRT than in women continuing in the trial (18% versus 3%, p < or = 0.001), whereas other complaints were similar or lower: breast swelling/tenderness (59% versus 67%, p > 0.05), bleeding (16% versus 17%, p > 0.05), spotting (23% versus 41%, p < or = 0.05). Bloating, of which women discontinuing complained significantly more often, and breast swelling/tenderness, the most frequently cited primary reason for discontinuation, may be more important factors than bleeding or spotting in an older woman's decision to discontinue HRT.

A functional polymorphic variant in the interleukin-6 gene promoter associated with low bone resorption in postmenopausal women.

OBJECTIVE: To examine functional interleukin-6 (IL-6) -174 G-->C allelic variants in relation to bone turnover and bone mineral density (BMD) in postmenopausal women. METHODS: Four hundred thirty-four healthy women living in the community (mean +/- SD age 71.7 +/- 5.7 years) were genotyped for the IL-6 -174 G-->C polymorphism. Serum levels of C-telopeptide of type I collagen (CTx), a marker of bone resorption, and osteocalcin (OC), a marker of bone formation, were determined. BMD at the hip and forearm was measured by dual-energy x-ray absorptiometry. RESULTS: CTx levels differed significantly (P = 0.006) among IL-6 genotypes (mean +/- SEM 0.275 +/- 0.02 ng/ml, 0.325 +/- 0.01 ng/ml, and 0.356 +/- 0.02 ng/ml in women with the CC genotype [n = 68], the GC genotype [n = 204], and the GG genotype [n = 162], respectively). Compared with the GG group, age-adjusted odds ratios for high bone resorption were 0.65 (95% confidence interval [95% CI] 0.41-1.0, P = 0.06) and 0.37 (95% CI 0.18-0.73, P = 0.0047) in GC and CC subjects, respectively. In contrast, OC levels did not differ by genotype. BMD at the hip and forearm was 1.5-5% higher in CC subjects compared with GG subjects (P not significant). When the cohort was divided according to the median age (70.5 years), BMD was significantly decreased in older compared with younger postmenopausal women with the GG and GC genotypes (-9.6% on average; P < 0.01), but not in those with the CC genotype (-5.1% on average; P not significant). CONCLUSION: Compared with the GC and GG IL-6 -174 G-->C genotypes, the CC genotype is associated with lower bone resorption and lesser decrease in bone mass in older postmenopausal women. These results suggest that IL-6 -174 G-->C alleles may be significant determinants of the risk for osteoporosis in elderly subjects.

Intracranial venous anomalies associated with atretic cephalocoeles.

BACKGROUND: Midline scalp lesions are frequent in children. They include soft-tissue masses and atretic meningocoeles. Their recognition is important as their treatment differs. Intracranial venous anomalies are known to be associated with atretic cephalocoeles. MATERIALS AND METHODS: A retrospective study was undertaken to assess the frequency of intracranial venous anomalies associated with atretic meningocoeles (AT). Thirty-one patients with AT were studied by MRI. There were 13 meningocoeles and 14 encephalocoeles; 4 have not yet received surgery. RESULTS: Venous anomalies were found when the cephalocoeles lay above the torcular. They include absence of the straight sinus and duplication of the longitudinal sinus. CONCLUSION: Venous anomalies are frequent in atretic cephalocoeles and are part of the dysraphic state.

Role of embolisation in the treatment of bronchopulmonary sequestration.

BACKGROUND: Sequestrations represent bronchopulmonary malformations that are increasingly diagnosed antenatally. After birth, the therapeutic approach in asymptomatic children is debated, as some may spontaneously regress. OBJECTIVE: To evaluate the efficacy of embolisation of the feeding systemic artery in the treatment of bronchopulmonary sequestration. MATERIALS AND METHODS: Sixteen children with bronchopulmonary sequestration were treated by endovascular embolisation of the feeding systemic artery. RESULTS: Ten patients were considered cured by embolisation alone. One patient was operated on after unsuccessful embolisation, three had partial regression of the lung mass and two are still under follow-up. CONCLUSIONS: Our experience indicates that bronchopulmonary sequestrations in children can be treated by embolisation alone.

Asthma education in the Emergency Department. On behalf of the MARC Investigators.

STUDY OBJECTIVE: We surveyed emergency department-based asthma researchers to study the presence of formal asthma education programs (AEPs), and examined data from prospective cohort studies to compare sites with and without AEPs. METHODS: We contacted site investigators in the Multicenter Airway Research Collaboration (MARC) in July 1998 by mail, fax, or telephone. Main outcomes were the percentage of sites using AEPs and the percentage of AEPs using each of 7 "key" teaching items in national guidelines. MARC data provided site and patient characteristics. RESULTS: All 77 site investigators (100%) responded to the survey. Using a scale from 1 to 5 (mean+/-SD), respondents identified instruction in proper inhaler technique (4.8+/-0.5), "spacer" use (4.3+/-0.7), recognition of asthma triggers (4.3+/-0.8), and rationale for medications (4. 6+/-0.6) as priorities for teaching. Twelve sites (16%; 95% confidence interval [CI] 8% to 26%) had AEPs; most (8) were at pediatric sites. Patients presenting to sites with AEPs were younger (22+/-16 years versus 25+/-15 years, P <.001), more likely to be uninsured (26% versus 23%, P <.001), and less likely to be taking inhaled corticosteroids (30% versus 37%, P <.001). AEP sites uniformly stressed "key" items, except for "written action plan" (50% of sites) and "peak flow diary" (33% of sites). CONCLUSION: Although asthma researchers agree that patient education is very important, few EDs involved in asthma research use AEPs. Sites with AEPs appear to serve patients at higher risk of poor asthma outcomes. Further study is needed to address the effectiveness of AEPs in the ED.

Effect of an emergency department asthma program on acute asthma care.

STUDY OBJECTIVE: To examine the effect of an emergency department program on acute asthma care. METHODS: We conducted a before-after study of an acute asthma quality improvement initiative in an urban teaching hospital with 65,000 annual ED visits. In mid-1994, a multidisciplinary group identified deficiencies in acute asthma care, developed and implemented a local version of the National Asthma Education Program's practice guidelines (including a standard asthma order sheet), and provided new peak flow (PF) meters. The "before" group comprised all adults with acute asthma seen during January 1994 (n=51); "after" groups comprised all adults with acute asthma seen during October 1994, February 1995, and June 1995 (n=145). Data were compared across months using a nonparametric test for trend. RESULTS: Although patient demographic characteristics and asthma severity were similar across months, ED process of care significantly changed. Initial PF measurements were obtained in 20% of patients before intervention, compared with 82%, 84%, and 83% during the postintervention months ( P for trend <.001). Follow-up PF readings were obtained in 22%, 70%, 78%, and 62% ( P <.001). Median delays to beta-agonist and steroid therapy decreased by approximately 16 minutes ( P <.001) and 34 minutes ( P =.04), respectively. Outcomes improved, with median ED length of stay decreasing by 58 minutes ( P =.01), and fewer inpatient admissions ( P =.05); there was no significant change in 4-week relapse to our hospital. CONCLUSION: A guideline-based ED asthma program changed clinical practice and improved acute asthma care in a sustained fashion. The effect of this intervention on cost and other outcomes is uncertain.

New techniques in stereotaxic surgery and anesthesia in the mouse.

Mice are used in increasing numbers in neuroscience research. This increase is linked to the availability of numerous pure genetic lines and the advent of transgenic animals. Many neuroscience techniques can be used in the mouse with success, including stereotaxic placement of cannulae and electrodes. With the recent publication of a mouse brain atlas by Franklin and Paxinos and improvements in surgical procedures for the mouse, stereotaxic surgery in mice can be performed routinely and with accuracy. In the present article, we describe techniques and apparatuses for the surgical implantation of cannulae in the mouse brain. We also present new developments in anesthesia, pain management, and postoperative care that improve survival and recovery times of mice. Using these new techniques, we have gained shorter training time for students, lower mortality rates following surgery, and faster recovery.

Injuries in a 1-day recreational cycling tour: Bike New York.

STUDY OBJECTIVE: To describe injuries during a 1-day urban cycling tour. METHODS: During the May 1996 "Bike New York" tour, we monitored EMS calls to identify injuries in a cohort of helmeted cyclists shielded from traffic. We collected demographic information from entry records, injury data from ambulance call reports, and follow-up on transported patients from telephone interviews with emergency physicians. Data were summarized using proportions, relative risks (RRs), 95% confidence intervals (CIs), and chi2 RESULTS: Approximately 28,000 cyclists participated, of which 23,502 (84%) were officially registered. Sixty-eight percent of registered bicyclists were male, and 92% were between 18 and 55 years old. Of the 140 EMS calls made during the tour, 136 (97%) involved participants; this yielded an injury incidence of 5 per 1,000 riders, or 12 to 13 per 100,000 person-miles. Injury was more common among younger cyclists (RR=1.4 for age 35 years; 95% CI, 1.0 to 2.0; P <.05), and possibly women (RR=1.3; 95% CI,.9 to 1.8; P =.11). Injuries were mostly minor, but there were 7 concussions and 6 clavicle fractures; none of the 140 injuries was fatal. Thirty-eight calls resulted in ED transport, and 5 of these patients were admitted. Although EMS units were evenly distributed along the route, most EMS calls occurred in only 3 of the 7 zones (P <.001). CONCLUSION: Injuries during the largest 1-day US cycling tour were uncommon. More data are needed to determine the relative importance of injury risk factors. Data collection during mass events may help guide distribution of EMS personnel.