Abstracts of Staff Publications
aSpring 1999
Correction of neutropenia and hypogammaglobulinemia in
X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation
Paul Scholl, Maurice O’Gorman, Lauren Pachman, Paul Haut, and Morris Kletzel
From the Divisions of Immunology/Rheumatology and the Stem Cell Transplant Program, Children’s Memorial Hospital, and the Department of Pediatrics, Northwestern University Medical School, Chicago.
Bone Marrow Transplantation 1998;22:1215–18
X-linked hyper-IgM (X-HIM) syndrome is a primary immunodeficiency disease characterized by defects in both cellular and humoral immunity. X-HIM is caused by mutations in the gene for CD40 ligand (CD40L), a T cell membrane protein that mediates T cell-dependent immune functions. We report the case of a 6-year-old male with X-HIM due to an intronic mutation resulting in aberrant CD40L RNA splicing and absence of detectable CD40L protein. The patient had a history of multiple infectious complications and chronic neutropenia requiring treatment with recombinant granulocyte colony-stimulating factor, and underwent allogeneic bone marrow transplantation from an HLA-matched sibling donor. Following successful engraftment, T cell CD40L expression and immunoglobulin isotype switching were reconstituted and neutropenia resolved. Allogeneic bone marrow transplantation can correct neutropenia and reconstitute immune function in X-HIM.
Surgical repair of the congenitally malformed mitral valve
in infants and children
Elias Zias, Constantine Mavroudis, Carl Backer, Lisa Kohr, Nina Gotteiner, and Albert Rocchini
From the Divisions of Cardiovascular-Thoracic Surgery and Cardiology, Children’s Memorial Hospital, and Departments of Surgery and Pediatrics, Northwestern University Medical School, Chicago.
Annals of Thoracic Surgery 1998;661551–59.
Backgound: Mitral valve remodeling techniques were applied to 26 infants and children (mean age, 6.0 years, range, 0.4 to 15.9 years) with various forms of congenital mitral valve disease over a 7-year period. Patients with atrioventricular canal, L-transposition and single ventricle were excluded. Intraoperative transesophageal echocardiography (TEE) was utilized to assess the repair and guide the need for immediate intervention.
Methods: Twenty-one patients had mitral regurgitation: 10 with cleft anterior mitral leaflet, 7 with annular dilatation, 1 with normal leaflets with an obstructing cord, 2 with prolapsed leaflets and elongated cords, and 1 with restricted leaflet motion, normal papillary muscles, and shortened cords. Of the 5 mitral stenosis patients, 3 had supravalvular mitral ring, 1 had midvalvular mitral ring, and 1 had a parachute valve. Three of the mitral stenosis patients had additional stenotic lesions. Concurrent repair of associated lesions was performed in 21 patients (78%).
Results: Operative mortality was 3.8% (n = 11). There were no late deaths. Immediate rerepair in 4 patients resulted in improved function. All mitral stenosis patients improved. A total of 20 mitral regurgitation patients (95%) improved; 1 required mitral valve replacement. Mean follow-up is 31 months (range, 2 to 81 months). All patients are in New York Heart Association functional class I or II.
Conclusions: Mitral valve repair can be successfullly performed in infants and children with excellent short- and midterm results. Assessment using transesophageal echocardiography can guide the necessity for immediate rerepair to achieve improved function.
Relation of traditional risk factors to intrauterine growth retardation among United States-born and foreign-born Mexican Americans in Chicago
James Collins, Jr., and Camilia Martin
From the Department of Pediatrics, Children’s Memorial Hospital and Northwestern University Medical School, Chicago.
Ethnicity and Disease 1998;8:21–25.
Objectives: To determine the relation of traditional sociodemographic characteristics to the small-for-gestational age rates of urban Mexican Americans.
Design: A cross-sectional study.
Methods: We performed a stratified analysis of 1982–1983 Illinois vital records and 1980 U.S. Census income data. The authors analyzed the 1982–1983 Illinois vital records and 1980 U.S. Census income data to determine whether maternal sociodemographic characteristics are associated with the small-for-gestational age (weight-for-gestational length < 10th percentile) rates among Mexican Americans in Chicago.
Results: The small-for-gestational age rate was 2.1% for infants with U.S.-born mothers (N = 2,253) compared to 1.4% for infants with foreign-born mothers (N = 8,746); relative risk 1.5 (95% confidence interval 1.1–2.1). For the U.S.-born cohort, maternal education, marital status, parity, prenatal care, and community income were associated with small-for gestational age rates. In contrast, with the exceptioin of marital status, these commonly cited risk factors were not associated with the small-for-gestational age rates of infants with Mexican-born mothers. The U.S.-born: Mexico-born small-for-gestational age rate ratio fluctuated around 2 among mothers with a high-risk (maternal age < 20 years, < 12 years education, unmarried marital status) demographic profile.
Conclusions: We conclude that traditional sociodemographic risk factors have different reproductive outcome consequences for U.S.-born and foreign-born Mexican-American mothers.
Valgus knee stress in lumbosacral myelomeningocele:
A gait-analysis evaluation
Richard Lim, Luciano Dias, Stephen Vankoski, Carolyn Moore, Michael Marinello, and John Sarwark
From the Division of Orthopaedics, Children’s Memorial Hospital.
Journal of Pediatric Orthopaedics 1998;18:428–433
Twenty-five independent community-ambulating patients with lumbosacral-level myelomeningocele (N = 50 limbs) underwent gait analysis. The limbs of these patients were divided into two groups based on thigh-foot angle (TFA): Group I (n = 20) had marked external tibial torsion, TFA <20°, and group II had TFA between 10 and 20°. Ten limbs were excluded because of neutral or internal alignment. Twenty normal limbs with TFA = 10° served as controls. An abnormal internal varus knee stress during stance was identified in all group I limbs and 12 (70%) of 20 group II limbs compared with controls, which demonstrated an internal valgus stress. This internal varus moment was greater in group I limbs than in the abnormal limbs in group II (p <0.05). Knee flexion was the only other parameter found to correlate with this stress and only in group I limbs. We conclude that (a) in this patient group, increased external tibial torsion is likely to result in an abnormal
internal varus knee stress; (b) TFA > 20° appears significantly to increase this stress; and (c) knee flexion is an important related parameter, but only in limbs with TFA between 10 and 20°. We believe that this abnormal stress may predispose the knee to late arthrosis and that derotational osteotomies to normalize the TFA may prove to have a favorable long-term effect.
One-year follow-up of symptoms of gastroesophageal
reflux during infancy
Suzanne Nelson, Edwin Chen, Gina Syniar, and
Katherine Kaufer Christoffel
From the Divisions of Gastroenterology, Hepatology and Nutrition, General Academic Pediatrics, and the Statistical Sciences and Epidemiology Program, Children’s Memorial Hospital; and the Department of Pediatrics, Northwestern University Medical School, Chicago.
Pediatrics 1998;102(6)
Objectives: 1) Determine what percentage of infants outgrow regurgitation over 1 year. 2) Determine whether they develop feeding or mealtime problems. 3) Determine whether they develop frequent respiratory illnesses, including ear, sinus, and upper respiratory infections.
Design: One-year follow-up survey of parents of children identified at 6 to 12 months of age as those who regurgitate (case subjects) and matched control subjects.
Participants: Sixty-three case subjects and 92 control subjects attending 12 different (urban, suburban, and rural) practices in the Pediatric Practice Research Group in the Chicago area.
Primary Outcome Measures: The Infant Gastroesophageal Reflux Questionnaire-Shortened and Revised Form and the Children’s Eating and Behavior Inventory (CEBI).
Results: At 1-year follow-up, no parents of case of control subject described spitting up as currently a problem. The parent of only one control subject (and no case subject) reported spitting up one or more times a day. Parents of subjects were more likely than those of control subjects to report frequent feeding refusal: odds ratio = 4.2, adjusted by age (95% confidence interval: 1.4–12.0). Case and control subjects had comparable average total CEBI scores (case subjects, x = 83 ± 10 vs control subjects, x = 82 ± 11) and comparable average proportion of items identified as a problem (8% ± 11% case subjects vs 6% ± 9% control subjects). Case subjects were more likely to respond positively to two CEBI questions indicating specific feeding problems: 1) "My child takes more than an hour to eat his/her meals" (8% case subjects vs 0% control subjects) and 2) "I get upset when I think about our meals" (14% case subjects vs 4% control subjects). The frequencies of ear, sinus, and upper respiratory infections and of episodes of wheezing were comparable in both groups.
Conclusions: 1) Infants with daily or problematic regurgitation at 6 to 12 months of age outgrew this within the following year.
2) Infants with daily or problematic regurgitation were more likely to develop feeding problems.
3) There was no increase in respiratory illnesses in infants with a history of regurgitation.
The physicians' office laboratory:
1988 and 1996 survey of Illinois pediatricians
Helen Binns, Susan LeBailly, and H. Garry Gardner for the Pediatric Practice Research Group
From the Departments of Pediatrics, Children’s Memorial Hospital and Northwestern University Medical School, Chicago; and Loyola University Medical Center, Maywood.
Archives of Pediatric Adolescent Medicine 1998;152:585–592
Objectives: To contrast practices of physicians office laboratories in the years 1988 and 1996 and ascertain physicians’ perception of the effect of the Clinical Laboratory Improvement Amendments of 1988 (CLIA).
Design: Mailed surveys to members of the Illinois chapter of the American Academy of Pediatrics in 1988 and 1996.
Subjects: There were 525 and 980 respondents in 1988 and 1996, respectively; analyses included 181 and 374 surveys representing
offices where direct patient care was provided in a nonhospital
setting. A paired analysis was also conducted on 101 offices that
responded to both.
Results: There was a decline from 1988 to 1996 in the percentage of offices doing in-office laboratory testing (93% to 84%, respectively; x2
test; P <.01) and median number of types of tests (6 tests vs 4 tests; Mann-Whitney U test; P <.001). Decreases (x2
test;
P <.01) were seen in the proportion of offices offering throat culture for group A streptococci (63% to 33%), urinalysis (54% to 33%), urine culture (53% to 22%), rapid hemagglutination slide test for mononucleosis (42% to 17%), theophylline level (27% to 4%), and total cholesterol (22% to 13%). The proportion of offices offering urine dipstick, hematocrit, or hemoglobin, complete blood cell count, and stool occult blood tests remained stable. For solo practitioner offices only, streptococcal antigen detection testing decreased (66% to 39%; x2
test; P <.001). Findings in the paired analyses were similar. In 1996, more offices participated in a formal proficiency testing program (60% vs 11%; x2
test; P <.001). The CLIA guidelines were deemed responsible for increased documentation (58%), discontinuing 1 or more tests (56%), increased frequency of quality control (50%), joining a proficiency program (40%), and increased cost to patients (32%).
Conclusions: These surveys provide large-scale data concerning change in office-based laboratories of physicians serving children during an 8-year period. Office laboratories reduced their menu of tests and enhanced documentation and quality control for the tests that were done. Data like these in multiple specialties over time contribute to a comprehensive picture of the effects of CLIA on office laboratory practices.
