bluuebunny/crossref_metadata_2025_split huggingface dataset:
Familial Mediterranean Fever: Effects of Genotype and Ethnicity on Inflammatory Attacks and Amyloidosis
Authors: Mimouni Aviva , Magal Nurit , Stoffman Nava , Shohat Tamy , Minasian Ara , Krasnov Michael , Halpern Gabrielle J. , Rotter Jerome I. , Fischel-Ghodsian Nathan , Danon Yehuda L. , Shohat Mordechai 
Published: August 2004

Objective.
The gene causing familial Mediterranean fever (FMF)—an autosomal recessive disease characterized by recurrent short episodes of fever associated most commonly with peritonitis, pleuritis, and arthritis—has recently been found and several mutations identified. The most severe complication of the disease is amyloidosis, which can lead to renal failure. The aim of this study was to investigate the role of genetic versus nongenetic factors on the phenotype as well as on the development of amyloidosis in FMF in a large and heterogeneous group of patients.

Methodology.
We studied 382 patients from 4 ethnic origins living in different environments: North African Jews, other Jews, Turks, Armenians living in the United States, and Armenians from Yerevan, Armenia. Information regarding amyloidosis was available for 371 patients. We examined the association between the mutation M694V and the development of amyloidosis, and we also compared the clinical characteristics of the inflammatory attacks in patients from different ethnic origins, while controlling for the type of mutation.

Results.
A significant association was found between amyloidosis and the most common mutation in exon 10 of the FMF gene (MEFV), M694V (for M694V homozygotes, relative risk = 1.77; 95% CI = 1.16–2.71). Amyloidosis was present in 44 of 171 homozygous FMF patients (25.7%), in 22 of 143 compound heterozygous FMF patients (15.4%), and in 7 of 57 patients carrying other mutations (12.3%). In homozygotes for M694V who had not been treated with colchicine before 20 years of age, the risk of amyloidosis developing before this age was 61.0%. In our series, there were no cases of amyloidosis in 16 patients carrying the common mutation E148Q. We found that the type and severity of the FMF inflammatory symptoms were associated with both the genotype and the country of residence of the patient.

Conclusions.
In the light of the high frequency of amyloidosis in homozygotes for the mutation M694V, colchicine treatment should be given to this group irrespective of the severity of the inflammatory attacks to prevent the development of amyloidosis. Our findings also suggest that factors other than genotype, such as environment or genes other than MEFV, play a role in the determination of the severity of the inflammatory attacks in FMF. amyloidosis, specific mutation, phenotype-genotype correlation, ethnicity.
The Danger of Premature Graduation to Seat Belts for Young Children
Authors: Winston Flaura K. , Durbin Dennis R. , Kallan Michael J. , Moll Elisa K. 
Published: August 2004

Objective.
To determine the risk of significant injury associated with premature graduation of young (2- to 5-year-old) children to seat belts from child restraint systems (CRS).

Background.
Advocates recommend use of child safety seats for children younger than age 4 and booster seats for children age 4 and older. Despite these recommendations, many children are prematurely taken out of these child restraints and placed in seat belts. Although data exist to support the use of child restraints over nonrestraint, no real-world data exist to evaluate the risk of significant injury associated with premature use of seat belts.

Design/Methods.
Partners for Child Passenger Safety includes a child-focused crash surveillance system based on a representative sample of children ages 0 to 15 years in crashes involving 1990 and newer vehicles reported to State Farm Insurance Companies in 15 states and the District of Columbia. Driver reports of crash circumstances and parent reports of child occupant injury were collected via telephone interview using validated surveys. Results were weighted based on sampling frequencies to represent the entire population.

Results.
Between December 1, 1998, and November 30, 1999, 2077 children aged 2 to 5 years were included and were weighted to represent 13 853 children. Among these young children, 98% were restrained, but nearly 40% of these children were restrained in seat belts.
Compared with children in CRS, children in seat belts were more likely to suffer a significant injury (relative risk: 3.5; 95% confidence interval: [2.4, 5.2]). Children in seat belts were at particular risk of significant head injuries (relative risk: 4.2; 95% confidence interval: [2.6, 6.7]) when compared with children in CRS.

Conclusions.
Premature graduation of young children from CRS to seat belts puts them at greatly increased risk of injury in crashes. A major benefit of CRS is a reduction in head injuries, potentially attributable to a reduction in the amount of head excursion in a crash.
First Intention High-Frequency Oscillation With Early Lung Volume Optimization Improves Pulmonary Outcome in Very Low Birth Weight Infants With Respiratory Distress Syndrome
Authors: Rimensberger Peter C. , Beghetti Maurice , Hanquinet Silviane , Berner Michel 
Published: August 2004

Objectives.The lack of decline in chronic lung disease of prematurity despite the generalized use of surfactant and alternative modes of ventilation such as high-frequency oscillation (HFO) has been attributed to some misunderstanding of how HFO has to be used. We used a new ventilatory strategy in very low birth weight (VLBW) infants, by initiating HFO immediately after intubation and attempting early lung volume optimization before surfactant was administered.Study Design.The outcome of 32 VLBW infants, managed with first intention HFO over a period of 24 months (September 1, 1996 and August 31, 1998) was compared by chart review with 39 historical controls, consecutively managed with conventional mechanical ventilation (CMV) over a period of 24 months (January 1, 1994 and December 31, 1995).Setting.An 11-bed tertiary care pediatric and neonatal intensive care unit of a university teaching hospital.Results.The 2 groups of patients were similar in demographic distribution of birth weight, gestational age, race, and gender. Patients on first intention HFO were ventilator-dependent (median [95% confidence interval]: 5 [3–6] vs 14 [6–23] days) and oxygen-dependent (12 [4–17] vs 51 [20–60] days) for a shorter time than patients on CMV. The incidence of chronic lung disease at 36 weeks of gestational age was significantly lower in the HFO group compared with the CMV group (0% vs 34%).Conclusions.First intention HFO with early lung volume optimization shortened the need for respiratory support and improved pulmonary outcome of VLBW infants with respiratory distress syndrome significantly.
Pulmonary Outcome in Extremely Low Birth Weight Infants
Authors: Fitzgerald Dominic A. , Mesiano Giulia , Brosseau Lyne , Davis G. Michael 
Published: August 2004

Objective.To determine whether infants with hyaline membrane disease (HMD) superimposed on immature lung disease (ILD) have more abnormal lung function and respiratory drive during the evolution of chronic neonatal lung disease (CNLD) in extremely low birth weight infants (ELBW; &lt;1000 g).Methods.We measured lung mechanics (respiratory frequency, tidal volume, minute ventilation, lung resistance, lung compliance, lung impedance, and work of breathing per minute) and respiratory drive (airway opening pressure 100 milliseconds after initiation of breath [P0.1] and maximal inspiratory pressure generated during airway occlusion) on 3 occasions before term in 24 ELBW infants.Results.Ten infants with ILD (mean [95% CI] gestation: 24.3 weeks [23.1,25.4]; birth weight: 675 g [553,798]) were studied at 27, 31, and 35 weeks of postconceptional age and 14 infants with HMD superimposed on ILD (gestation: 25.1 weeks [24.4,25.9]; birth weight: 687 g [601,773]) were studied at 28, 32, and 35 weeks of postconceptional age. There were no statistically significant differences between the groups for respiratory frequency, tidal volume, minute ventilation, lung resistance, lung compliance, lung impedance, work of breathing per minute, P0.1, and maximal inspiratory pressure generated during airway occlusion. With increasing age, both groups demonstrated increased respiratory drive as measured by P0.1 without significant changes in respiratory frequency or CO2. Work of breathing per minute increased in the HMD group with age and was higher in extubated subjects. A similar trend with age was demonstrated in ILD infants. Regardless of whether the initial lung disease was ILD alone or HMD + ILD, ELBW infants developed a mildly reduced lung compliance/kg (.8–1.1 mL/cm·H2O/kg) and high lung resistance (75–125 cm·H2O/L/second) pattern of CNLD, which changed little after 3 weeks of age. Survival to 6 months was 23/24 (96%). Oxygen dependency was 16/24 (67%) at 35 weeks, yet only 5/23 (22%) survivors required oxygen at discharge from the neonatal unit (43 weeks).Conclusions.The visco-elastic and flow-resistive properties of the lungs in ELBW infants with CNLD remain only mildly abnormal, suggesting a more favorable prognosis for lung function in later years than previously reported.
Neurodevelopmental and Functional Outcomes of Extremely Low Birth Weight Infants in the National Institute of Child Health and Human Development Neonatal Research Network, 1993–1994
Authors: Vohr Betty R. , Wright Linda L. , Dusick Anna M. , Mele Lisa , Verter Joel , Steichen Jean J. , Simon Neal P. , Wilson Dee C. , Broyles Sue , Bauer Charles R. , Delaney-Black Virginia , Yolton Kimberly A. , Fleisher Barry E. , Papile Lu-Ann , Kaplan Michael D. 
Published: August 2004

Objectives.The purposes of this study were to report the neurodevelopmental, neurosensory, and functional outcomes of 1151 extremely low birth weight (401–1000 g) survivors cared for in the 12 participating centers of the National Institute of Child Health and Human Development Neonatal Research Network, and to identify medical, social, and environmental factors associated with these outcomes.Study Design.A multicenter cohort study in which surviving extremely low birth weight infants born in 1993 and 1994 underwent neurodevelopmental, neurosensory, and functional assessment at 18 to 22 months' corrected age. Data regarding pregnancy and neonatal outcome were collected prospectively. Socioeconomic status and a detailed interim medical history were obtained at the time of the assessment. Logistic regression models were used to identify maternal and neonatal risk factors for poor neurodevelopmental outcome.Results.Of the 1480 infants alive at 18 months of age, 1151 (78%) were evaluated. Study characteristics included a mean birth weight of 796 ± 135 g, mean gestation (best obstetric dates) 26 ± 2 weeks, and 47% male. Birth weight distributions of infants included 15 infants at 401 to 500 g; 94 at 501 to 600 g; 208 at 601 to 700 g; 237 at 701 to 800 g; 290 at 801 to 900 g; and 307 at 901 to 1000 g. Twenty-five percent of the children had an abnormal neurologic examination, 37% had a Bayley II Mental Developmental Index &lt;70, 29% had a Psychomotor Developmental Index &lt;70, 9% had vision impairment, and 11% had hearing impairment. Neurologic, developmental, neurosensory, and functional morbidities increased with decreasing birth weight. Factors significantly associated with increased neurodevelopmental morbidity included chronic lung disease, grades 3 to 4 intraventricular hemorrhage/periventricular leukomalacia, steroids for chronic lung disease, necrotizing enterocolitis, and male gender. Factors significantly associated with decreased morbidity included increased birth weight, female gender, higher maternal education, and white race.Conclusion.ELBW infants are at significant risk of neurologic abnormalities, developmental delays, and functional delays at 18 to 22 months' corrected age.
Birth Weight- and Gestational Age-Specific Sudden Infant Death Syndrome Mortality: United States, 1991 Versus 1995
Authors: Malloy Michael H. , Freeman Daniel H. , PhD Jr, 
Published: August 2004

Objective.To estimate the changes in birth weight- and gestational age-specific sudden infant death syndrome (SIDS) mortality rates since the publication of the sleep-positioning recommendations by the American Academy of Pediatrics Task Force on Infant Positioning and SIDS.Methods.This is a historical cohort study using US vital statistic linked birth and infant death certificate files for the years 1991 and 1995. SIDS deaths were identified as any death attributed toInternational Classification of Diseases, Ninth Revisioncode 7980, occurring between the 28th and 365th days of life.Results.There were 4871 deaths attributed to SIDS in 1991 for a postneonatal mortality rate of 1.2/1000 postneonatal survivors compared with 3114 deaths in 1995 for a rate of .8/1000. This represents a 33% drop in the postneonatal SIDS mortality from 1991 to 1995. Between 1991 and 1995, SIDS rates declined 38%, 38%, 35%, and 32% for birth weight groupings of 500 to 999 g, 1000 to 1499 g, 1500 to 2499 g, and ≥2500 g, respectively. There were no SIDS deaths attributed to infants weighing &lt;500 g. The SIDS rates declined 27%, 21%, 40%, and 23% for gestational age groups of &lt;29 weeks, 29 to 32 weeks, 33 to 36 weeks, and ≥37 weeks. The rate of decline did not differ significantly across birth weight- or gestational age-specific categories. There was a significant increase in the black:non-black postneonatal SIDS mortality ratio from 2.00 to 2.28, reflecting a smaller decline in birth weight- and gestational age-specific mortality for blacks than observed for the non-black population.Conclusion.Postneonatal SIDS mortality decreased significantly across all broad birth weight and gestational age categories. If the decline in the prevalence of prone positioning that has been reported since 1992 has occurred across all birth weight and gestational age, these data support the hypothesis that supine or side sleep positioning is effective in preterm/low birth weight infants as well as term infants.
Evaluation and Management of Proteinuria and Nephrotic Syndrome in Children: Recommendations From a Pediatric Nephrology Panel Established at the National Kidney Foundation Conference on Proteinuria, Albuminuria, Risk, Assessment, Detection, and Elimination (PARADE)
Authors: Hogg Ronald J. , Portman Ronald J. , Milliner Dawn , Lemley Kevin V. , Eddy Allison , Ingelfinger Julie 
Published: August 2004

Objective.
The development of this review article evolved from a National Kidney Foundation consensus conference on recent advances in the importance of evaluating and treating proteinuria. From this conference, a series of recommendations for the evaluation of adults with proteinuria was published. Because specific pediatric aspects of the problem were outside the scope of the original National Kidney Foundation publication, an ad hoc committee of 6 pediatric nephrologists who were active participants in the National Kidney Foundation conference was established to provide primary care physicians with a concise, up-to-date reference on this subject.

Methods.
The recommendations that are given represent the consensus opinions of the authors. These are based on data from controlled studies in children when available, but many of the opinions are, by necessity, based on uncontrolled series in children or controlled trials performed in adults, because controlled trials in children have not been performed to evaluate many of the treatments described.

Results and Conclusions.
These recommendations are intended to provide primary care physicians with a useful reference when they are faced with a young child or teenager who presents with proteinuria, whether this is mild and asymptomatic or more severe, leading to nephrotic syndrome.
Changing Indications for Pediatric Cholecystectomy
Authors: Miltenburg Darlene M. , Schaffer Randolph , Breslin Tara , Brandt Mary L. 
Published: August 2004

Purpose.
The purpose of this study was to determine indications for gallbladder surgery and risk factors for urgent surgery.

Methods.
We reviewed all patients &lt;19 years old, who underwent cholecystectomy between 1980 and 1996.

Results.
There were 128 patients (mean age: 10 years). Fifty-two patients had an underlying hematologic disorder, 47 had another medical disorder, and 29 had no preexisting illness or identifiable risk factor for gallstone disease. Twenty-five percent (32/128) of cholecystectomies were performed urgently. Postoperative complications developed in 5 of 32 patients (16%) who underwent emergency surgery and 6 of 96 patients (6%) who underwent elective surgery. There were 3 deaths, all occurring in patients undergoing emergency cholecystectomy (odds ratio: 23). Furthermore, all who died had congenital heart disease (odds ratio: 183), making congenital heart disease an independent risk factor for gallstone-related mortality.

Conclusions.
Cholecystectomy is recommended when medically possible for children with underlying medical diseases. Patients with medical disorders that make them a high surgical risk can be followed clinically, realizing that if urgent surgery is necessary, the morbidity is relatively high. Those children with congenital heart disease and gallstones are at a prohibitively high risk for death after urgent cholecystectomy. For these patients, the risk of an elective cholecystectomy may be acceptable when weighed against the high risk of complications from their gallstones.
The Impact of Managed Care Insurance on Use of Lower-Mortality Hospitals by Children Undergoing Cardiac Surgery in California
Authors: Erickson Lars C. , Wise Paul H. , Cook E. Francis , Beiser Alexa , Newburger Jane W. 
Published: August 2004

Context.
Managed care plans aggressively seek to contain costs, but few data are available regarding their impact on access to high quality care for their members.

Objective.
To assess the impact of managed care health insurance on use of lower-mortality hospitals for children undergoing heart surgery in California.

Design.
Retrospective cohort study using state-mandated hospital discharge datasets.

Setting.
Pediatric cardiovascular surgical centers in California.

Patients.
Five thousand seventy-one children admitted for open cardiac surgical procedures during 1992–1994.

Results.
Hospitals were divided into lower- and higher-mortality groups according to adjusted surgical mortality. Using multivariate logistic regression analysis to control for medical, socioeconomic, demographic, and distance factors, children with managed care insurance were less likely to be admitted to a lower-mortality hospital for surgery relative to children with indemnity insurance (odds ratio: .53; 95% confidence interval: .45,.63). Similar findings resulted when the analysis was stratified by race/ethnicity. In addition, length of stay, a correlate of health care costs, was no longer for children admitted to lower-mortality centers than for those at higher-mortality centers (adjusted difference: .54 days shorter at lower-mortality centers; 95% confidence interval: −1.50,.41).

Conclusions.
During this study, children with managed care insurance had significantly reduced use of lower-mortality hospitals for pediatric heart surgery in California compared with children with indemnity insurance. Further study is necessary to determine the mechanisms of this apparent insurance-specific inequity.
Effect of Neonatal Test Environment on Recording Transient-Evoked Otoacoustic Emissions
Authors: Headley Gillian M. , Campbell Deborah E. , Gravel Judith S. 
Published: August 2004

Objective.To examine the effect of test environment on recording transient-evoked otoacoustic emissions (TEOAE) in neonates.Methods.Thirty-two infants from the newborn nursery (NBN) who passed a screening auditory brainstem response (SABR) test and were at least 34 weeks' postconceptional age were studied. One ear of each newborn was tested using TEOAE in 5 different test environments: open bassinet in the NBN (E1), working isolet located in the NBN (E2), nonfunctioning isolet in the NBN (E3), nonfunctioning isolet in a quiet room off the NBN (E4), and open bassinet in a quiet room (E5). The number of high noise samples (HNS), the test duration (in seconds), the signal-to-noise ratio (SNR; in dB) measured at bandwidths centered at 1.6, 2.4, 3.2, and 4.0 kHz, and the percentage of neonates with a fail screening outcome based on a common pass–fail screening criteria were compared in the 5 test environments.Results.There were statistically significant differences in the number of HNS accumulated in the 5 test environments (F = 6.79). The use of a nonfunctioning isolet in both the NBN and within a room off the NBN (E3 and E4, respectively) resulted in significantly fewer HNS than when TEOAEs were recorded in the other 3 test environments (E1, E2, and E5). Mean test duration was significantly different among the 5 locations (F = 6.53). Posthoc analyses revealed that test time in E3 and E4 was significantly shorter than in E1 and E2. The percentage of newborns with a fail (≤3 dB SNR at 2.4, 3.2, and 4.0 kHz) outcome was lowest in E3 (6.3%) and the same in E1 and E4 (12.5%). A high percentage of infants received a fail outcome when tested in both the working isolet and in the open bassinet in a room off the nursery (21.8% and 25%, respectively). SNR (in dB) for bandwidths centered at 1.6, 2.4, and 3.2 kHz was negatively correlated with the HNS in the working isolet. SNR (in dB) at 4.0 kHz was negatively correlated with the HNS when TEOAEs were recorded in the open bassinet in a room adjacent to the NBN. The number of HNS was correlated with overall test time in each environment.Conclusions.Test environments typically used for newborn hearing screening can influence the recording of TEOAEs. Performing the TEOAE test with the neonate placed in a nonfunctioning isolet located in either the NBN or in a room off of the NBN resulted in the most desirable outcomes (shortest test times, fewest HNS, highest SNR (in dB), and fewest fail outcomes).
Evaluation of Covert Video Surveillance in the Diagnosis of Munchausen Syndrome by Proxy: Lessons From 41 Cases
Authors: Hall David E. , Eubanks Laura , Meyyazhagan LCSW*; Swarnalatha , Kenney Richard D. , Johnson Sherry Cochran 
Published: August 2004

Objective.In 1993, Children's Healthcare of Atlanta at Scottish Rite (formery Scottish Rite Children's Medical Center, Atlanta, GA) added facilities to perform inpatient covert video surveillance (CVS) of suspected cases of Munchausen syndrome by proxy (MSBP). Forty-one patients were monitored from 1993 to 1997. This study was performed to review our experience with these cases. How useful was video surveillance in making the diagnosis? What were the characteristics of families with children who were victims of MSBP?Methodology.Medical, social work, security, and administrative records of all children who underwent covert video monitoring at Children's Healthcare of Atlanta at Scottish Rite from 1993 through 1997 were reviewed retrospectively by a team of physicians, risk managers, and social workers.Results.A diagnosis of MSBP was made in 23 of 41 patients monitored. CVS was required to make the diagnosis in 13 (56.1%) of these 23, and supportive of the diagnosis in 5 (21.7%) cases. In 4 patients, this surveillance was instrumental in establishing innocence of the parents. MSBP was more common in Caucasian patients than in other ethnic groups seen at our hospital. Fifty-five percent of mothers gave a history of health care work or study, and another 25% had previously worked in day care. Although many of caretakers fit the profile of MSBP, such as excessive familiarity with medical staff, eagerness for invasive medical testing, and history of health care work, these characteristics were not sensitive indicators of MSBP in our study. Even when present, they were not sufficiently compelling to make the diagnosis.Conclusions.CVS is required to make a definitive and timely diagnosis in most cases of MSBP. Without this medical diagnostic tool, many cases will go undetected, placing children at risk. All tertiary care children's hospitals should develop facilities to perform CVS in suspected cases.