99 results on '"Neill CA"'
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2. Kinetic profiling of P-glycoprotein-mediated drug efflux in rat and human intestinal epithelia
- Author
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Richard Stephens, Neill Ca, O., Warhurst A, Gl, Carlson, Rowland M, and Warhurst G
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Male ,Digoxin ,Cardiotonic Agents ,Reverse Transcriptase Polymerase Chain Reaction ,Calcium Channel Blockers ,Vinblastine ,Antineoplastic Agents, Phytogenic ,Epithelium ,Rats ,Rats, Sprague-Dawley ,Kinetics ,Pharmaceutical Preparations ,Verapamil ,Colonic Neoplasms ,Animals ,Humans ,ATP Binding Cassette Transporter, Subfamily B, Member 1 ,RNA, Messenger ,Caco-2 Cells ,Intestinal Mucosa ,DNA Primers ,Glycoproteins - Abstract
Intestinal drug efflux mediated by P-glycoprotein and other ABC transporters is widely accepted as a reason for low or variable oral absorption. However, little is known about species and regional differences in P-glycoprotein so the functional and predictive relevance of observations made in cell models such as Caco-2 is uncertain. The aim of this study was to define the kinetics of drug efflux in rat and human intestinal tissues in vitro using the "reference" substrates digoxin and vinblastine. The expression and functional role of other ABC transporters in the transport of these compounds was also investigated. Saturable, verapamil-sensitive efflux of digoxin was observed in all intestinal regions. Apparent affinity of the efflux process varied within a relatively narrow range (50-92 microM), increasing in rat from small to large intestine. In contrast, maximal transporter activity varied over a 4- to 5-fold range with ileumjejunumcolon. Similar regional differences in efflux were also observed with vinblastine. Maximal efflux levels were similar in Caco-2 and ileum for both substrates, suggesting that Caco-2 may quantitatively predict small intestinal drug efflux. Digoxin efflux kinetics was virtually identical in rat and human colon. Inhibitor studies showed that digoxin and vinblastine efflux in intestinal tissues was mediated by P-glycoprotein, although a minor component could be attributed to multidrug resistance-related protein (MRP)-like transporters in Caco-2. This study has analyzed the differential functional expression of drug efflux along the gastrointestinal tract. Such data will be critical in developing predictive models of P-glycoprotein-mediated efflux using information gathered from in vitro systems.
3. Illuminating microflora: shedding light on the potential of blue light to modulate the cutaneous microbiome.
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Serrage HJ, O' Neill CA, and Uzunbajakava NE
- Subjects
- Animals, Humans, Dysbiosis microbiology, Skin Diseases microbiology, Blue Light, Microbiota, Skin microbiology, Skin radiation effects
- Abstract
Cutaneous diseases (such as atopic dermatitis, acne, psoriasis, alopecia and chronic wounds) rank as the fourth most prevalent human disease, affecting nearly one-third of the world's population. Skin diseases contribute to significant non-fatal disability globally, impacting individuals, partners, and society at large. Recent evidence suggests that specific microbes colonising our skin and its appendages are often overrepresented in disease. Therefore, manipulating interactions of the microbiome in a non-invasive and safe way presents an attractive approach for management of skin and hair follicle conditions. Due to its proven anti-microbial and anti-inflammatory effects, blue light (380 - 495nm) has received considerable attention as a possible 'magic bullet' for management of skin dysbiosis. As humans, we have evolved under the influence of sun exposure, which comprise a significant portion of blue light. A growing body of evidence indicates that our resident skin microbiome possesses the ability to detect and respond to blue light through expression of chromophores. This can modulate physiological responses, ranging from cytotoxicity to proliferation. In this review we first present evidence of the diverse blue light-sensitive chromophores expressed by members of the skin microbiome. Subsequently, we discuss how blue light may impact the dialog between the host and its skin microbiome in prevalent skin and hair follicle conditions. Finally, we examine the constraints of this non-invasive treatment strategy and outline prospective avenues for further research. Collectively, these findings present a comprehensive body of evidence regarding the potential utility of blue light as a restorative tool for managing prevalent skin conditions. Furthermore, they underscore the critical unmet need for a whole systems approach to comprehend the ramifications of blue light on both host and microbial behaviour., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Serrage, O’ Neill and Uzunbajakava.)
- Published
- 2024
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4. The Paediatric Cardiology Hall of Fame: Helen Brooke Taussig MD. May 24, 1898 to May 21, 1986.
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Neill CA and Clark EB
- Subjects
- Cardiology history, Female, History, 19th Century, History, 20th Century, Humans, Pediatrics history, Tetralogy of Fallot history, Tetralogy of Fallot surgery, United States, Cardiac Surgical Procedures history
- Abstract
The life and accomplishments of Helen Taussig are reviewed at the centennial of her birth in 1898. Now, a little over 50 years since the first Blalock Taussig shunt in 1944, her legacy remains a model of brilliant scientific innovation and loving patient care.
- Published
- 1999
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5. Cervical aortic arch with aneurysm formation.
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Pearson GD, Kan JS, Neill CA, Midgley FM, Gardner TJ, and Hougen TJ
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- Aorta, Thoracic pathology, Aorta, Thoracic surgery, Aortic Aneurysm, Thoracic surgery, Child, Dilatation, Pathologic, Female, Humans, Aorta, Thoracic abnormalities, Aortic Aneurysm, Thoracic complications
- Abstract
Two pediatric cases of cervical aortic arch with aneurysm formation are reported. Only female patients with cervical aortic arch have developed aneurysms, which may influence risk counseling of such patients.
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- 1997
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6. Helen Brooke Taussig.
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Neill CA
- Subjects
- Anastomosis, Surgical history, Cardiology history, Heart Defects, Congenital surgery, History, 20th Century, Humans, Pediatrics history, United States, Heart Defects, Congenital history
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- 1994
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7. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group.
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Correa-Villaseñor A, Ferencz C, Neill CA, Wilson PD, and Boughman JA
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- Adult, Birth Weight, Case-Control Studies, District of Columbia epidemiology, Ebstein Anomaly etiology, Ebstein Anomaly genetics, Ebstein Anomaly mortality, Heart Defects, Congenital epidemiology, Humans, Infant, Infant, Newborn, Maryland epidemiology, Maternal Age, Pedigree, Pregnancy, High-Risk, Prevalence, Reference Values, Regression Analysis, Risk Factors, Socioeconomic Factors, Virginia epidemiology, Ebstein Anomaly epidemiology
- Abstract
Ebstein's anomaly is a specific structural deformity of the tricuspid valve, and its rarity has hampered etiologic evaluation. Cases of Ebstein's anomaly registered in the Baltimore Washington Infant Study (BWIS), a regional case-control study of cardiovascular malformations (CVM) in infancy, are reviewed. Between 1981 and 1989 a total of 4,390 CVM cases, including 47 Ebstein cases, and 3,572 controls were registered. The prevalence of Ebstein's anomaly was 5.2 per 100,000 livebirths. Additional cardiac anomalies were present in 38.3% of Ebstein cases. Non-cardiac malformations were present in 19.1% of Ebstein cases vs. 25.5% of other CVM, and 1.7% of controls. Case-fatality by 1 year of age was 23.4% in Ebstein vs. 18.1% in other CVM. Interviews of parents of Ebstein cases, other CVM, and controls (n = 44, 3,335, and 3,572, respectively) elicited information on family history of malformations, maternal illnesses, reproductive history, therapeutic drugs, parental lifestyle, and environmental exposures during the periconceptional period. Case-control analyses suggest genetic, reproductive, and environmental risk factors: twins [odds ratio (OR) 8.2, 95% confidence interval (CI) 2.6-25.3]; family history of CVM (OR 6.4, 95% CI 1.8-22.2); white race (OR 2.9 with non-whites as reference, 95% CI 1.2-7.0); previous miscarriages (OR 2.0, 95% CI 1.2-3.3); maternal exposure to benzodiazepines (OR 5.4, 95% CI 1.5-19.1); and varnishing (OR 3.4, 95% CI 1.3-9.1). Additional multicenter investigations are warranted to elucidate the role of genetic, reproductive, and environmental factors in the etiology of this anomaly.
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- 1994
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8. Asplenia syndrome--risk factors for early unfavorable outcome.
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Phoon CK and Neill CA
- Subjects
- Abnormalities, Multiple genetics, Black People, Cause of Death, Female, Heart Defects, Congenital genetics, Humans, Infant, Infant, Newborn, Life Tables, Lung abnormalities, Male, Maternal Age, Pregnancy, Prognosis, Pulmonary Veins abnormalities, Reproductive History, Retrospective Studies, Risk Factors, Survival Rate, Syndrome, White People, Heart Defects, Congenital pathology, Spleen abnormalities
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- 1994
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9. Asplenia syndrome: insight into embryology through an analysis of cardiac and extracardiac anomalies.
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Phoon CK and Neill CA
- Subjects
- Abnormalities, Multiple epidemiology, Heart Defects, Congenital epidemiology, Humans, Situs Inversus epidemiology, Syndrome, Abnormalities, Multiple embryology, Heart Defects, Congenital embryology, Situs Inversus embryology, Spleen abnormalities
- Abstract
Asplenia syndrome is characterized by complex congenital heart defects, asplenia and abdominal heterotaxy. Recent interest in the syndrome has been increased by new knowledge arising from animal models and by continuing improvements in surgical outcome in childhood. To further elucidate the embryologic timing and mechanisms of the asplenia syndrome, 32 necropsy cases were reviewed and 487 published autopsy cases were reanalyzed at the hospital. The most common congenital heart defects were atrial septal defects, common atrioventricular canals and conotruncal anomalies. With use of current information on the timing of normal development, it was hypothesized that most defects originate at Streeter Horizon XIII; patients averaged 3.2 Horizon XIII defects, more than at any other stage. Distribution was unimodal. Extracardiac anomalies also exhibited a developmental spectrum. Because the normal spleen develops by Horizon XIII, asplenia, the sine qua non of the syndrome, originates then or earlier. Abnormal pulmonary lobation occurred in 80% of cases, with right isomerism occurring most often; pulmonary branching asymmetry also originates at or before Horizon XIII. Abdominal heterotaxy occurred in 72% of cases, but the timing of origin is unclear. Anomalies of other systems, including genitourinary, musculoskeletal, endocrine, and nervous systems, develop later (typically XV to XXIII); specific anomalies were less frequent, although much more prevalent than in the general population. It is concluded that asplenia syndrome is a focal developmental disturbance in laterality which occurs primarily at Horizon XIII.
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- 1994
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10. Tetralogy of Fallot. The first 300 years.
- Author
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Neill CA and Clark EB
- Subjects
- Cardiology history, Denmark, History, 17th Century, Humans, Tetralogy of Fallot surgery, Cardiac Surgical Procedures history, Tetralogy of Fallot history
- Abstract
The chronicle of tetralogy of Fallot is part of a dramatic evolution in cardiology, cardiac surgery, and understanding of the developing heart. Many new tools and concepts have evolved since Steno of Denmark first described the defect in 1673, and since Fallot of Marseilles coined the term tetralogy in 1888. Four major eras of progress can be recognized. The 1st, the era of pathologic anatomy, culminated in the publication of Maude Abbott's Atlas of Congenital Cardiac Disease in 1936. The next, the era of clinicophysiology and surgery, was highlighted by the 1st Blalock-Taussig anastomosis in 1944, by open-heart surgery 10 years later, and by a new team approach to cardiology. The 3rd, or infant era, began in the mid 1970s with successful intracardiac repair in infants, the rise of echocardiography, and the introduction of prostaglandin therapy. The current era of cardiac development (beginning in the 1990s) gives hope for early understanding of the molecular basis of tetralogy. Tribute is due to the surgical and medical pioneers, and to the pioneer patients and their families, for revolutionary changes in diagnosis and treatment. The challenge of the next 100 years lies in increased understanding of the molecular biology of the defect and in preserving the blend of humanism, scholarship, and skill that have graced the advances of the past 3 centuries.
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- 1994
11. Extrahepatic biliary atresia and associated anomalies: etiologic heterogeneity suggested by distinctive patterns of associations.
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Carmi R, Magee CA, Neill CA, and Karrer FM
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- Abnormalities, Multiple epidemiology, Abnormalities, Multiple etiology, Biliary Atresia classification, Biliary Atresia epidemiology, Case-Control Studies, Female, Humans, Infant, Newborn, Male, Phenotype, United States epidemiology, Biliary Atresia etiology
- Abstract
Fifty-one cases of extrahepatic biliary atresia (EHBA) with associated anomalies were found in a study of EHBA (251 cases). Analysis of segregation patterns of these anomalies in individual patients suggested the existence of 2 major groups: (1) 15 cases (29.4%) with various combinations of anomalies within the laterality sequence, and (2) 30 cases (58.8%) with one or 2 anomalies mostly involving the cardiac, gastrointestinal, and urinary systems. These latter anomalies did not follow any recognizable pattern. The third group of 6 cases all had intestinal malrotation, some with preduodenal portal vein; these cases show some similarity to the laterality sequence group and may represent a more confined phenotypic result of faulty situs determination. This previously unattempted classification of patients with EHBA and associated anomalies might enable a more targeted approach towards identification of causes in this heterogeneous disorder. EHBA within the laterality sequence might prove a suitable candidate for a major gene mutation. Teratogenic, infectious and polygenic multifactorial causes might play a more significant role in EHBA associated with "nonsyndromic" organ system anomalies.
- Published
- 1993
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12. Cardiomyopathy in infancy: observations in an epidemiologic study.
- Author
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Ferencz C and Neill CA
- Subjects
- Cardiomyopathies etiology, Cardiomyopathies genetics, Case-Control Studies, Cross-Sectional Studies, District of Columbia epidemiology, Female, Heart Defects, Congenital etiology, Heart Defects, Congenital genetics, Humans, Incidence, Infant, Infant, Newborn, Maryland epidemiology, Pregnancy, Prenatal Exposure Delayed Effects, Risk Factors, Syndrome, Virginia epidemiology, Cardiomyopathies epidemiology, Heart Defects, Congenital epidemiology
- Abstract
Cardiomyopathy (Cm), a rare form of cardiac disease in infancy, is receiving increasing attention stimulated by the availability of endocardial biopsy and new forms of therapy. Population-based information on frequency of occurrence, types, and maternal and infant characteristics of this diverse group of heart muscle disorders has been obtained in the course of an etiologic study on cardiovascular disease in infancy. The Baltimore-Washington Infant Study (BWIS) enrolled 2659 infants with heart disease and 2801 control infants between January 1, 1981 and March 31, 1987, a 6-year prevalence of 4.46/1000 live births. Fifty-six infants had cardiomyopathy, in the absence of a structural defect (prevalence 1/10,000). The cases were classified clinicopathologically as follows: dilated Cm (n = 17), hypertrophic Cm (n = 26), tumor (n = 5), endocardial fibroelastosis (n = 5), glycogen storage (n = 1), mucocutaneous lymph node syndrome (n = 1), and infarction (n = 1). Eleven syndromic associations and six metabolic disturbances indicate genetic risk factors. Some of the same syndromes occurred in other infants who had structural cardiac abnormalities. This overlap suggests that embryonic myocardial disease might sometimes be responsible for altered cardiac structures, possibly secondary to hemodynamic changes. Familial myocardial disease occurred in two infants with hypertrophic Cm. The Cm group did not differ by race and sex from controls, but the mothers were of lower educational and occupational status with less private care and with later registration for pregnancy care. The descriptive epidemiology of this population-based case group provides evidence of greater etiologic heterogeneity than has been shown in clinical reports.
- Published
- 1992
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13. Tetralogy of Fallot. The spectrum of severity in a regional study, 1981-1985.
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Karr SS, Brenner JI, Loffredo C, Neill CA, and Rubin JD
- Subjects
- Analysis of Variance, Baltimore epidemiology, District of Columbia epidemiology, Female, Humans, Infant, Infant, Newborn, Male, Prognosis, Risk Factors, Tetralogy of Fallot epidemiology, Tetralogy of Fallot mortality
- Abstract
The combined medical and surgical mortality rate for 125 infants with tetralogy of Fallot registered in the Baltimore-Washington Infant Study from 1981 to 1985 was 28% (mean age at follow-up for living infants, 40 months). Despite early diagnosis and successful early repair in many infants, significant risk factors for death included pulmonary atresia, major additional cardiac anomalies, major noncardiac malformations, low birth weight, and prematurity. There is a wide spectrum of severity, ranging from infants with isolated tetralogy and no risk factors who have an excellent prognosis to infants with three or more risk factors and a high probability of neonatal death. Further treatment advances will improve outcome in some, but not all, infants. A regional all-inclusive study of a specific cardiac defect can define research and treatment challenges not obvious from selected clinical series.
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- 1992
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14. Cardiac care for infants. Determinants of hospital charges for acute care.
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Pearson GD, Kidd L, Beittel TM, and Neill CA
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- Baltimore epidemiology, Birth Weight, Cost-Benefit Analysis, Health Services Research, Heart Diseases mortality, Hospitals, University economics, Humans, Infant, Infant, Newborn, Length of Stay statistics & numerical data, Linear Models, Multivariate Analysis, Outcome Assessment, Health Care, Patient Admission statistics & numerical data, Reimbursement Mechanisms statistics & numerical data, Retrospective Studies, Severity of Illness Index, Survival Rate, Heart Diseases economics, Heart Diseases therapy, Hospital Charges, Intensive Care, Neonatal economics, Intensive Care, Neonatal statistics & numerical data
- Abstract
We analyzed hospital use and inpatient charges retrospectively for infants hospitalized at a tertiary referral center in the first year of life for cardiac disease. For 93 infants hospitalized between August 1987 and June 1989, there were 1.8 admissions per patient, with a median stay of 14 days; 24.7% required more than 28 days of acute inpatient care. Total hospital charges (excluding professional fees) in the first year of life were $3,417,612, which represents $36,749 per infant and $35,386 per survivor. Reimbursement totaled 93.2% of charges. Multivariate analysis revealed that complex disease, surgery, and length of stay in the intensive care unit were significantly associated with increased charges, while extracardiac anomalies, birth weight, outcome, and type of insurance were not. The economic benefits of averting infant death outweigh the associated costs by as much as 5.4 to 1. We conclude that current treatment of most infants with cardiac disease is both effective and economically beneficial.
- Published
- 1991
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15. Determinants of outcome in hospitalized infants with congenital heart disease.
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Pearson GD, Neill CA, Beittel TM, and Kidd L
- Subjects
- Female, Heart Defects, Congenital mortality, Humans, Infant, Infant, Newborn, Male, Treatment Outcome, Heart Defects, Congenital surgery
- Abstract
To identify determinants of adverse outcome in this era of early, definitive treatment, retrospective data were analyzed for 1988 on infants aged less than 1 year with congenital cardiac disease hospitalized at The Johns Hopkins Hospital. In this cohort of 108 infants, 34% (37 of 108) had complex cardiac disease, 33% (36 of 108) had major extracardiac anomalies, 88 patients (81%) underwent 116 surgical procedures, 37% (40 of 108) were hospitalized for greater than 28 days and 29% (31 of 108) died during the first year. Univariate analysis showed that complex disease (i.e., severe ventricular hypoplasia, ventricular septal malalignment or outflow atresia), extracardiac anomalies, early initial presentation, and prolonged stay in the intensive care unit were significantly associated with infant death, whereas surgery was associated with a significantly increased rate of survival. The findings for complex disease and surgery persisted in multiple logistic regression analysis. It is concluded that outcome in most infants with congenital cardiac defects is now extremely favorable, and that major research and preventive efforts should focus on complex congenital cardiac defects.
- Published
- 1991
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16. Total anomalous pulmonary venous return: familial and environmental factors. The Baltimore-Washington Infant Study Group.
- Author
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Correa-Villaseñor A, Ferencz C, Boughman JA, and Neill CA
- Subjects
- Adult, Congenital Abnormalities etiology, Congenital Abnormalities genetics, Demography, District of Columbia, Female, Humans, Infant, Infant, Newborn, Male, Maryland, Multivariate Analysis, Pedigree, Pregnancy, Prevalence, Socioeconomic Factors, Virginia, Congenital Abnormalities epidemiology, Environment, Pulmonary Veins abnormalities
- Abstract
In total anomalous pulmonary venous return (TAPVR), the intrapulmonary venous plexus has failed to connect to the left atrium, so that the pulmonary veins drain into right atrial tributaries, frequently resulting in early postnatal circulatory distress. The Baltimore-Washington Infant Study (BWIS), a population-based exploratory case-control study of cardiovascular malformations (CVM), identified 41 cases of TAPVR during 1981-1987: 1.5% of all CVM (N = 2659), a regional prevalence of 6.8/100,000 live births. Of the TAPVR infants, 68% were diagnosed as neonates, 88% had surgery, and 51.2% were alive at 1 year of age. Noncardiac malformations were present in nine cases (22%); the male-female ratio was 0.78 (18.23). Compared with a control group representative of the birth cohort (N = 2,801), more TAPVR patients had low birthweight (less than 2,500 g: 16.2% vs. 6.9%, short gestational age (less than 38 weeks: 18.9% vs. 9.3%), and intrauterine growth retardation (IUGR) (26.8% vs. 5.8%). Sociodemographic findings were similar to those of controls, except that fewer TAPVR mothers received private pregnancy care (59.5% vs. 71.4%). Family history revealed no other TAPVR-affected members, but a significant linear trend of increased risk was found over the ordered malformation categories (familial noncardiac, cardiac, both). Bivariate analysis of TAPVR and exposure in life-style, hobbies, and work showed possible associations for exposure to lead (OR 2.9; 99% confidence interval [CI]: 1.2, 7.2), painting/paint stripping (OR 3.3; 99% CI: 1.3, 8.4), lead soldering (OR 13.3; 99% CI: 1.8, 99.2), and pesticides (OR 2.7; 99% CI: 1.2, 6.4). Multivariate analysis suggested an interaction between pesticide exposure and family history and, thus, a possible familial susceptibility to environmental teratogens. Although the number of TAPVR cases is small, this epidemiologic study identifies hypotheses that may be further explored in morphogenetic and epidemiology studies. Total anomalous pulmonary venous return (TAPVR) constitutes a well-defined clinical entity in which the pulmonary veins fail to enter the left atrium and instead drain into the right atrium or its systemic venous tributaries (Neill, '56; Rowe et al., '81). During intrauterine life, the malformation does not compromise the fetal circulation, since the pulmonary arterial resistance is high and the patent foramen ovale provides easy access of right atrial blood to the left side of the heart. At birth, however, the pulmonary vascular resistance begins to fall, and the presence of a severe hemodynamic disturbance becomes increasingly evident (Ferencz et al., '71).(ABSTRACT TRUNCATED AT 400 WORDS)
- Published
- 1991
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17. Dr. Helen Brooke Taussig May 24, 1898--May 21, 1986. International cardiologist.
- Author
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Neill CA
- Subjects
- Cardiac Surgical Procedures history, Cardiology history, History, 20th Century, International Cooperation, Massachusetts
- Published
- 1987
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18. Congenital cardiovascular malformations: questions on inheritance. Baltimore-Washington Infant Study Group.
- Author
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Ferencz C, Boughman JA, Neill CA, Brenner JI, and Perry LW
- Subjects
- Epidemiologic Methods, Family Health, Humans, Pedigree, Phenotype, Ploidies, Risk Factors, Heart Defects, Congenital genetics
- Abstract
The Baltimore-Washington Infant Study, an epidemiologic investigation of congenital heart disease, searches for genetic and environmental risk factors. Among 2,102 infants with heart disease, 17.5% had a noncardiac abnormality of chromosomal or genetic origin, whereas among 2,328 control infants, only 0.7% had a genetic abnormality. Familial cardiovascular malformations encountered can be grouped into five distinct etiologic mechanisms. Single gene effects may be responsible for the specific histologic and biochemical changes in familial atrial septal defect with conduction disturbance and also in idiopathic ventricular hypertrophy. Left heart lesions showed familial concordance by the presumed morphogenetic mechanism of abnormal embryonic blood flow with phenotypes of varying severity. Pulmonary stenosis appeared with familial heritable disorders, as well as a partially concordant lesion with tetralogy of Fallot. Ventricular septal defect with transposition of the great arteries (one sibling pair) and with truncus arteriosus (two sibling pairs) indicate forme fruste expression of conotruncal defects. Endocardial cushion defect occurred with and without Down's syndrome in members of three families, suggesting inheritance of a defect affecting cellular migration. Heritable blood coagulopathies occurred in case families and not in control families. The associated of hemophilia and transposition, observed also by others, is extremely unlikely by chance and suggests genetic errors of endothelial cell function. The description of specific families from a population-based study emphasizes biologic questions on the nature of the inheritance of cardiovascular malformations.
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- 1989
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19. Hypertensive pulmonary vascular disease in Down syndrome.
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Wilson SK, Hutchins GM, and Neill CA
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Down Syndrome pathology, Ductus Arteriosus, Patent pathology, Female, Heart Septal Defects, Atrial pathology, Heart Septal Defects, Ventricular pathology, Humans, Hypertension, Pulmonary complications, Infant, Infant, Newborn, Male, Pulmonary Valve Stenosis pathology, Down Syndrome complications, Hypertension, Pulmonary pathology, Pulmonary Artery pathology, Pulmonary Veins pathology
- Abstract
Clinical studies have suggested that patients with Down syndrome have precocious development of pulmonary hypertension, even in the absence of congenital heart disease. To examine the pathologic basis of this impression, we studied 82 patients with Down syndrome autopsied at The Johns Hopkins Hospital from 1913 to present. The patients ranged in age from 26 hours to 25 years; 41 (50%) were female. Atrioventricular canal defect was present in 40 patients, nine of whom also had pulmonary stenosis. Eight had isolated ventricular septal defect and seven had other malformations. Histologic sections of the lung from each patient were studied and the degree of hypertensive pulmonary vascular disease graded. Age and sex-matched controls without cardiovascular manifestations, all other autopsied patients with atrioventricular canal defect not associated with Down syndrome, and age-matched patients with ventricular septal defect or other malformations were similarly studied for pulmonary vascular changes. Comparison of the 27 patients with Down syndrome and no cardiovascular malformations with normal controls showed no differences, with one notable exception: an 8-month-old child with Down syndrome had severe HPVD secondary to idiopathic pulmonary hypertension. HPVD in patients with the various cardiovascular malformations was similar for those groups with Down syndrome and those without, when HPVD was considered as a function of the patients' age and the type of malformation. We conclude that, in general, patients with Down syndrome have no predisposition to develop severe or precocious hypertensive pulmonary vascular disease.
- Published
- 1979
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20. A study of the dose-effect relationship of cholestyramine in children with familial hypercholesterolemia.
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Farah JR, Kwiterovich PO, and Neill CA
- Subjects
- Adolescent, Body Weight, Cholestyramine Resin administration & dosage, Cholestyramine Resin adverse effects, Dose-Response Relationship, Drug, Humans, Hypercholesterolemia diet therapy, Hypercholesterolemia genetics, Lipoproteins, LDL blood, Cholestyramine Resin therapeutic use, Hypercholesterolemia drug therapy
- Published
- 1977
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21. The heart of a child: The ambulatory child with a cardiac murmur.
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Neill CA and Haroutunian LM
- Subjects
- Age Factors, Female, Heart Diseases etiology, Heart Diseases therapy, Humans, Male, Heart Auscultation, Heart Diseases diagnosis, Heart Murmurs
- Published
- 1978
22. Transpulmonary artery correction of anomalous origin of the left coronary artery by saphenous vein graft.
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Fisher J, McDonald G, Brinker J, Neill CA, Donahoo JS, and Baughman KL
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- Adult, Cardiomegaly surgery, Female, Humans, Pulmonary Artery surgery, Syndrome, Coronary Vessel Anomalies surgery, Pulmonary Artery abnormalities, Saphenous Vein surgery
- Abstract
A transpulmonary saphenous vein graft was used to repair an anomalous origin of the Left coronary artery from the pulmonary artery (ALCAPA). Postoperative cardiac catheterization revealed correction of the previous systemic arterial to venous shunt and a patent intrapulmonary artery conduit. The patient has experienced substantial symptomatic and functional improvement from the operation operation despite development of mild pulmonary outflow obstruction. Saphenous vein transpulmonary artery correction for ALCAPA offers an alternative surgical approach and may be the procedure of choice when anatomy or prior surgery preclude the more standard modes of revascularization.
- Published
- 1983
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23. Cardiac involvement in adolescent hypertension. Echocardiographic determination of myocardial hypertrophy.
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Zahka KG, Neill CA, Kidd L, Cutilletta MA, and Cutilletta AF
- Subjects
- Adolescent, Blood Pressure, Body Weight, Cardiac Volume, Cardiomegaly diagnosis, Echocardiography, Female, Heart anatomy & histology, Humans, Hypertension physiopathology, Male, Myocardium pathology, Obesity pathology, Cardiomegaly etiology, Hypertension complications
- Abstract
We measured left ventricular chamber dimension and wall thickness using M-mode echocardiography in 61 adolescents with systolic or diastolic blood pressures above the 90th percentile for age and sex and in 49 normotensive adolescents. Left ventricular posterior wall and ventricular septal thickness indexed to body surface area were significantly greater (p less than 0.001) in the hypertensive group than in the normotensive controls. Left ventricular chamber diastolic and systolic dimensions were not different in the hypertensive group when compared to normotensive adolescents with comparable body size. Left ventricular diastolic and systolic volumes as well as left ventricular function did not differ between the hypertensive and control groups. Calculated parameters of left ventricular hypertrophy, namely, the radius-to-wall-thickness ratio, cross-sectional muscle area, and left ventricular mass, in the hypertensive adolescents were all significantly different (p less than 0.001) from those in the control groups. The finding of myocardial hypertrophy in young, mildly hypertensive subjects suggests early myocardial involvement in the hypertensive process.
- Published
- 1981
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24. Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study.
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Ferencz C, Neill CA, Boughman JA, Rubin JD, Brenner JI, and Perry LW
- Subjects
- Chromosome Aberrations complications, Chromosome Disorders, Down Syndrome complications, Heart Defects, Congenital epidemiology, Humans, Infant, Risk Factors, Chromosome Aberrations epidemiology, Heart Defects, Congenital genetics
- Abstract
The Baltimore-Washington Infant Study is a population-based case-control study that seeks to identify risk factors for cardiovascular malformations. Between 1981 and 1986, a total of 2102 infants with cardiovascular malformations were ascertained, among whom 271 (12.9%) also had a chromosome abnormality. Among 2328 random control subjects, only two had a chromosome abnormality. Down syndrome with cardiovascular malformations had a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population. Endocardial cushion defect, the predominant cardiac abnormality in Down syndrome (60.1%), rarely occurred as an isolated cardiac lesion (2.8%). The absence of transpositions and the rarity of heterotaxias and of right- and left-sided obstructive lesions in trisomies indicate that there may be a genetic influence on specific embryologic mechanisms. Alimentary tract lesions were more common in Down syndrome than among euploid patients with heart disease and more severe than in control subjects. Urinary tract lesions also occurred in excess of the rate in control subjects. The coexistence of these major malformations with heart disease raises the possibility of incomplete expression of the VA(C)TER (vertebral, anal, cardiac, tracheal, esophageal renal) association. The selective association of chromosome abnormalities with certain cardiovascular defects is now beginning to be explained by reported embryologic studies on cellular characteristics. An explanation of the negative association with transposition and obstructive lesions requires further multidisciplinary studies on genetic and epigenetic factors.
- Published
- 1989
- Full Text
- View/download PDF
25. Maternal mitral valve prolapse and congenital heart disease in the offspring.
- Author
-
Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neill CA, Perry LW, Hepner SI, and Downing JW
- Subjects
- District of Columbia, Female, Heart Defects, Congenital etiology, Humans, Infant, Newborn, Male, Maryland, Mitral Valve Prolapse etiology, Mitral Valve Prolapse genetics, Mothers, Virginia, Heart Defects, Congenital genetics, Mitral Valve Prolapse congenital
- Published
- 1985
- Full Text
- View/download PDF
26. Dose-effect relation of cholestryamine in children and young adults with familial hypercholesterolaemia.
- Author
-
Farah JR, Kwiterovich PO Jr, and Neill CA
- Subjects
- Administration, Oral, Adolescent, Adult, Child, Cholesterol blood, Cholesterol, Dietary administration & dosage, Cholestyramine Resin therapeutic use, Dose-Response Relationship, Drug, Fatty Acids, Unsaturated administration & dosage, Folic Acid blood, Follow-Up Studies, Humans, Hypercholesterolemia blood, Hypercholesterolemia therapy, Lipoproteins, LDL blood, Triglycerides blood, Cholestyramine Resin administration & dosage, Hypercholesterolemia genetics
- Abstract
Twenty children and young adults with familial hypercholesterolaemia (F.H.), on a diet low in cholesterol and high in polyunsaturated fats, were treated with cholestyramine in a metabolic unit to determine the decrease in plasma cholesterol and low-density lipoprotein (L.D.L.) cholesterol in relation to drug dosage, pretreatment concentrations of cholesterol and L.D.L. cholesterol, and body-weight. When the dose of cholestyramine was increased in thirteen patients by 1 g/day up to 16 g/day, given twice daily, cholesterol and L.D.L. cholesterol fell within the normal range in eleven subjects (average dose, 7 g/day), and the response was directly proportional (P less than less than 0-001) to the pretreatment concentrations of cholesterol (r = 0-89) and L.D.L. cholesterol (r = 0-93) but did not correlate with body-weight. Plasma total cholesterol and L.D.L. cholesterol continued to fall and concentrations reached a plateau after which additional cholestyramine had no further effect (average dose, 11 g/day). The L.D.L. cholesterol regression line successfully predicted the dose required to reduce L.D.L. cholesterol concentrations in seven other patients. There was a significant decrease in mean serum-folate in female patients. It was concluded that the minimum effective dose of cholestyramine in young patients with F.H. can be predicted from the pretreatment plasma total and L.D.L. cholesterol and may be given twice daily.
- Published
- 1977
- Full Text
- View/download PDF
27. Helen Brooke Taussig: 1898 to 1986.
- Author
-
McNamara DG, Manning JA, Engle MA, Whittemore R, Neill CA, and Ferencz C
- Subjects
- Bibliographies as Topic, Cardiology history, History, 20th Century, Pediatrics history
- Published
- 1987
- Full Text
- View/download PDF
28. Sudden death among postoperative patients with tetralogy of Fallot: a follow-up study of 243 patients for an average of twelve years.
- Author
-
Quattlebaum TG, Varghese J, Neill CA, and Donahoo JS
- Subjects
- Adolescent, Adult, Arrhythmias, Cardiac physiopathology, Bundle-Branch Block physiopathology, Child, Electrocardiography, Heart Block physiopathology, Heart Conduction System physiopathology, Heart Ventricles physiopathology, Humans, Physical Exertion, Retrospective Studies, Sinoatrial Block physiopathology, Tetralogy of Fallot mortality, Death, Sudden, Postoperative Complications mortality, Tetralogy of Fallot surgery
- Abstract
Two hundred and forty-three patients were evaluated following total correction of tetralogy of Fallot with special emphasis on postoperative conduction disturbances and on the occurrence of sudden death. The average follow-up period was 12 years with a range of 6 1/2 to 16 1/2 years. Sudden death occurred in seven patients. Four deaths were among those with right bundle branch block pattern (RBBB) and three of the four had premature ventricular contractions (PVC) for more than one month postoperatively. PVCs were documented in ten of the 158 patients with RBBB; sudden death occurred in three (30%). Three of the ten (30%) patients with trifascicular block pattern (TB) died suddenly, while no deaths occurred in 24 patients with bifascicular block pattern (BB). Progression of RBBB to BB and TB occurred in 18 patients from one month to seven years postoperatively (58% of BB and 40% of TB). The risk of sudden death in patients with RBBB and PVCs following tetralogy repair is high and warrants consideration of suppressive therapy. TB also carries a high risk. The finding that RBBB may progress to BB or TB mandates long-term careful follow-up of all tetralogy patients with postoperative conduction disturbances.
- Published
- 1976
- Full Text
- View/download PDF
29. Systemic collateral and pulmonary artery stenosis in patients with congenital pulmonary valve atresia and ventricular septal defect.
- Author
-
McGoon MD, Fulton RE, Davis GD, Ritter DG, Neill CA, and White RI Jr
- Subjects
- Adolescent, Adult, Angiography, Bronchial Arteries diagnostic imaging, Cardiac Catheterization, Child, Child, Preschool, Female, Heart Ventricles diagnostic imaging, Humans, Infant, Male, Mammary Arteries diagnostic imaging, Middle Aged, Pulmonary Circulation, Collateral Circulation, Heart Septal Defects, Ventricular complications, Lung blood supply, Pulmonary Artery abnormalities, Pulmonary Valve abnormalities
- Abstract
Angiograms of 30 patients with congenital pulmonary valve atresia, ventricular septal defect, and large systemic-pulmonary collateral arteries (SPCAs) were evaluated. All had aortography, 28 had SPCA arteriography, and 26 had right ventriculography. Seventeen (65%) of 26 patients had a right ventricular infundibulum, 23 (77%) had a pulmonary artery confluence, and five of the nine patients without a right ventricular infundibulum had a confluence. Sixty-six SPCAs of aortic origin were seen; 28 (42%) had narrowing and 21 patients (70%) had one or more narrowed SPCAs. Five patients had collaterals from internal mammary, subclavian or innominate arteries. Fourteen (47%) had hilar pulmonary artery stenosis. Of these 14 patients mild peripheral stenosis was demonstrated in five. Right aortic arch was present in 15 patients (50%). Complete angiographic delineation of pulmonary vasculature is an essential procedure for preoperative detection of pulmonary and SPCA stenoses in these patients.
- Published
- 1977
- Full Text
- View/download PDF
30. Patterns of cardiac care in infants with Down syndrome.
- Author
-
Schneider DS, Zahka KG, Clark EB, and Neill CA
- Subjects
- Heart Defects, Congenital complications, Heart Defects, Congenital diagnosis, Heart Defects, Congenital mortality, Humans, Infant, Referral and Consultation, Time Factors, Down Syndrome complications, Heart Defects, Congenital surgery
- Abstract
To determine if the pattern of cardiac care is affected by the presence of Down syndrome (DS) we analyzed the records of infants enrolled in the Baltimore-Washington Infant Study, a regional case-control study of congenital cardiovascular malformations. The age at cardiac diagnosis, the timing of cardiac surgery, and the one-year outcome were compared in 160 infants with DS and 540 infants with the same cardiac diagnoses but without chromosomal or other extracardiac anomalies (Isolated cardiovascular malformation [ICM] group). Cardiac referral and diagnosis were accomplished by 13 weeks of age in 78% of infants with DS and 67% of those with ICMs. However, by 26 weeks of age, the proportion of infants in both groups was comparable. Cardiac surgery was performed before 1 year of age in 99 of 160 infants with DS and in 141 of 540 infants with ICMs. The surgical outcome was similar in the two groups. We conclude that for defects of comparable severity, the pattern of cardiac care in the Baltimore-Washington, DC, area for infants with DS is timely and comparable to care for infants with ICMs.
- Published
- 1989
- Full Text
- View/download PDF
31. Congenital cardiovascular malformations in the Baltimore-Washington area.
- Author
-
Rubin JD, Ferencz C, McCarter RJ, Wilson PD, Boughman JA, Brenner JI, Neill CA, Perry LW, Hepner SI, and Downing JW
- Subjects
- District of Columbia, Female, Humans, Infant, Infant, Newborn, Male, Maryland, Virginia, Heart Defects, Congenital epidemiology
- Published
- 1985
32. Valve replacement in children. A fifteen-year perspective.
- Author
-
Gardner TJ, Roland JM, Neill CA, and Donahoo JS
- Subjects
- Age Factors, Aortic Valve Insufficiency surgery, Aortic Valve Stenosis surgery, Female, Follow-Up Studies, Heart Valve Prosthesis standards, Humans, Male, Mitral Valve abnormalities, Pregnancy, Tricuspid Valve Insufficiency surgery, Aortic Valve surgery, Bioprosthesis mortality, Heart Valve Prosthesis mortality, Mitral Valve surgery, Tricuspid Valve surgery
- Abstract
Between 1965 and 1980, 64 children form 1 to 19 years of age have undergone replacement of the aortic, mitral, or tricuspid valve at The Johns Hopkins Hospital. Three of these patients have had successful second valve replacements 4 to 12 years after the initial operation. During the first 5 year period of this review, the hospital mortality was 31%, whereas only one of 33 children having valve replacement during the most recent 5 year period died early after operation (hospital mortality, 1976 to 1980, 3%). Thromboembolic complications have been seen in only two patients in this group, for an incidence of 0.8% per patient-year. Among patients receiving long-term warfarin anticoagulation, there has been only one major bleeding episode in 133 patient-years of follow-up. The type of valve prosthesis implanted during this 15 year period has changed greatly. Ninety-four percent of the prostheses placed during the initial 5 year period were the caged-poppet type of valve, whereas tilting disc, central flow, and tissue valve substitutes have been implanted more recently. Eight of the 10 patients most recently undergoing valve replacement have received St. Jude Medical prostheses, and postoperative catheterization studies have confirmed the excellent hemodynamic performance of these valves, even in patients with prostheses of very small annular diameter. Despite the disappointing occurrence of premature tissue valve failure in the young population, valve replacement in children currently is safer and there is a wider variety of technically satisfactory valve substitutes available for implantation today.
- Published
- 1982
33. Maternal hormone therapy and congenital heart disease.
- Author
-
Ferencz C, Matanoski GM, Wilson PD, Rubin JD, Neill CA, and Gutberlet R
- Subjects
- Estrogens pharmacology, Estrogens therapeutic use, Female, Humans, Pregnancy, Progesterone pharmacology, Progesterone therapeutic use, Teratogens, Abortion, Threatened drug therapy, Estrogens adverse effects, Heart Defects, Congenital epidemiology, Progesterone adverse effects
- Abstract
Exogenous female sex hormone exposure was studied in the mothers of 110 infants with conotruncal malformations of the heart, born in the years 1972-75. Cases were ascertained throughout the referral area of the Maryland State Intensive Care Neonatal Program. For each case, three normal controls were chosen from the birth population: Two matched on eight characteristics related to the likelihood of hormone-taking (race, maternal age, parity, fetal losses, gestational age, delivery mode, time of prenatal registration, private/service), and one also on the infant's sex and birthweight; the third control was chosen at random. In personal interviews, information was obtained on the mother's general health, family history, reproductive characteristics, pregnancy health, and environmental exposures. Identification of hormonal products was aided by a display of pills and packages. Maternal recall was examined in comparison to the responses of a group of mothers of infants with hypoplastic left heart ("disease controls"). Regression analysis on time elapsed since the infant's birth revealed no difference in recall between the mothers of cases and of controls. Multilogistic regression analysis, controlling for confounding variables and for scores constructed for reproductive, malformation, and exposure risks, showed no increase in relative risk for cases when compared with matched controls. When compared to random controls, the analysis suggested a possible increase in relative risk with increased environmental exposure scores; components of the risk score were excess smoking and alcohol intake, exposure to X-ray, drugs, paints, insecticides, and chemicals. The possible significance of this finding needs to be further investigated.
- Published
- 1980
- Full Text
- View/download PDF
34. Handgrip strength after the Blalock-Taussig shunt: 14 to 34 year follow-up.
- Author
-
Zahka KG, Manolio TA, Rykiel MJ, Abel DL, Neill CA, and Kidd L
- Subjects
- Adult, Child, Child, Preschool, Cohort Studies, Follow-Up Studies, Hand, Humans, Infant, Muscles blood supply, Palliative Care, Muscle Contraction, Muscles physiology, Tetralogy of Fallot surgery
- Abstract
To determine the long-term functional impact of the Blalock-Taussig (BT) shunt, we studied handgrip strength in 56 patients (10-28 years) following total repair of tetralogy of Fallot. Of the 56, 16 (29%) had a previous right BT shunt, 5 of 56 (9%) had a previous left BT shunt, and the remaining 35 patients either had a Potts shunt or primary total repair. The mean age at the time of right BT was 2.8 +/- 1.6 (SD) years, left BT 1.7 +/- 1.2 years, and total repair for all patients was 7.1 +/- 2.2 years. Mean age at the time of study was 26 +/- 9 years. Right-and left-handgrip strength were measured with a Jamar dynamometer, averaging the results of grip position 2, 3, and 4 to accommodate variation in hand size. Since absolute values of hand strength were strongly associated with sex (p = 0.006) and body surface area (p = 0.016), we calculated the ratio of right-hand to left-handgrip strength (RL ratio). The RL ratios were: 0.98 +/- 0.13 (right BT), 1.21 +/- 0.11 (left BT), and 1.13 +/- 0.16 (no BT): (p = 0.004 right BT vs. no BT, p = 0.07 left BT vs. no BT, Wilcoxon rank sum test). Thus, although frequently clinically inapparent, handgrip strength tested many years post-BT shunt is reduced on the side of the shunt.
- Published
- 1988
- Full Text
- View/download PDF
35. Surgical management of congenital pulmonary valve dysplasia.
- Author
-
Watkins L Jr, Donahoo JS, Harrington D, Haller JA Jr, and Neill CA
- Subjects
- Adolescent, Cardiomegaly diagnostic imaging, Cardiomegaly surgery, Child, Child, Preschool, Female, Heart Septal Defects, Atrial diagnostic imaging, Heart Septal Defects, Atrial surgery, Heart Septal Defects, Ventricular diagnostic imaging, Heart Septal Defects, Ventricular surgery, Humans, Infant, Male, Pulmonary Valve diagnostic imaging, Pulmonary Valve surgery, Radiography, Pulmonary Valve abnormalities, Pulmonary Valve Stenosis diagnostic imaging, Pulmonary Valve Stenosis surgery
- Abstract
Pulmonary valvular stenosis secondary to congenital valve dysplasia differs markedly from the classic variety of pulmonary stenosis. The reported mortality of patients treated by standard commissurotomy is 38 to 66%. The clinical features and operative management of 14 patients with dysplastic pulmonary valves are reviewed. Three groups of patients were studied. Group 1 consisted of 5 patients treated by commissurotomy. Group 2 comprised 3 patients treated by partial excision of the valve. In neither group were there operative deaths, but 5 of the 8 patients developed recurrent stenosis; 3 required reoperation. In 1975, because of the high incidence of recurrent stenosis, total valvectomy was begun. Ten patients (Group 3) have undergone valvectomy with 1 death. Nine patients were doing well at 3 to 15 months of follow-up. Based on the reported mortality and present findings, total excision of the valve is recommended for relief of stenosis in pulmonary valve dysplasia.
- Published
- 1977
- Full Text
- View/download PDF
36. Cardiac and noncardiac malformations: observations in a population-based study.
- Author
-
Ferencz C, Rubin JD, McCarter RJ, Boughman JA, Wilson PD, Brenner JI, Neill CA, Perry LW, Hepner SI, and Downing JW
- Subjects
- Chromosome Aberrations, Congenital Abnormalities genetics, District of Columbia, Epidemiologic Methods, Heart Defects, Congenital genetics, Humans, Infant, Newborn, Maryland, Syndrome, Virginia, Congenital Abnormalities epidemiology, Heart Defects, Congenital epidemiology
- Abstract
A regional case-control study of congenital cardiovascular malformations (CCVMs) searches for all live-born infants in the community in whom the cardiac diagnosis has been confirmed by echocardiography, cardiac catheterization, surgery, or autopsy. Their families are studied in comparison to those of a representative sample of resident live-born infants. Detailed descriptions of noncardiac abnormalities are obtained from physician reports and maternal interviews expanded by medical record and death certificate data. Among 1,494 cases and 1,572 controls, chromosomal abnormalities, syndromes, heritable disorders, and suspect syndromes occurred with an overwhelming excess in cases (chromosomes, P less than 10(-4); syndromes/heritable disorders, P less than .005). Abnormalities affecting chromosomes 13, 18, and 21 constituted 93% of the cytogenetic defects. Syndromes and heritable disorders were of 39 types. Nonsyndromic abnormalities were three times more frequent in cases than in controls (P less than .005). Case excesses occurred for central nervous system malformations, eye disorders, major abdominal wall defects, and abnormalities of the alimentary and urinary tracts. Severe anomalies frequent among cases were those which also occur in certain recognized syndromes, and it is suggested that paired combinations of cardiac and other midline anomalies may represent "formes frustes" of syndromes with similar though variable phenotypic expressions. Cleft lip and palate, inguinal hernia, and lower limb anomalies occurred with equal frequency, suggesting their association with CCVMs by chance alone.
- Published
- 1987
- Full Text
- View/download PDF
37. Hematologic disorders and congenital cardiovascular malformations: converging lines of research.
- Author
-
Ferencz C, Rubin JD, McCarter RJ, Wilson PD, Boughman JA, Brenner JI, Neill CA, Perry LW, Hepner SI, and Downing JW
- Subjects
- Anemia etiology, Anemia, Sickle Cell etiology, Blood Coagulation Disorders etiology, Cyanosis complications, Factor XI Deficiency etiology, Heart embryology, Heart Defects, Congenital genetics, Hematologic Diseases genetics, Hemoglobinopathies etiology, Hemophilia A etiology, Humans, Infant, Newborn, Morphogenesis, Thrombocytopenia etiology, von Willebrand Diseases etiology, Heart Defects, Congenital complications, Hematologic Diseases etiology
- Abstract
In a population-based study on congenital cardiovascular malformations (CCVM), the occurrence of heritable coagulopathies among case parents and not among controls raised the possibility of an etiologic association of CCVM with blood disorders. The literature was searched for evidence that such an association could be biologically plausible. Reported embryologic and clinical data provided confirmatory findings. The heart and blood arise from common angiogenic cells; endothelial cells, the first components of the primitive heart, synthesize coagulation factors; resultant osmotic alterations of embryonic fluids could alter early cardiac morphogenesis. Bleeding diatheses are common in cyanotic and acyanotic patients with CCVM and hemostatic disorders have been reported in some families. CCVM and blood disorders are joint components of several malformation syndromes. The hypothesis of an etiologic relationship between HBD and CCVM needs to be tested in multiple research areas. Future experimental studies should be based on current theories of cardiac morphogenesis to include investigations of embryonic blood in genetic blood disorders. Clinical studies should clarify hematologic alterations in CCVM probands and their families.
- Published
- 1984
38. Endocardial fibroelastosis and left heart hypoplasia revisited.
- Author
-
Neill CA and Ursell P
- Subjects
- Humans, Endocardial Fibroelastosis physiopathology, Heart Defects, Congenital physiopathology
- Published
- 1984
- Full Text
- View/download PDF
39. Hyperlipidemia: clinical clues in the first two decades of life.
- Author
-
Neill CA, Ose L, and Kwiterovich PO Jr
- Subjects
- Adolescent, Adult, Child, Child, Preschool, Humans, Hypercholesterolemia diagnosis, Hyperlipidemias genetics, Infant, Infant, Newborn, Medical History Taking, Physical Examination standards, Hyperlipidemias diagnosis
- Published
- 1977
40. Extensive thrombus formation with heparin resistance during extracorporeal circulation. A new presentation of familial antithrombin III deficiency.
- Author
-
Nielsen LE, Bell WR, Borkon AM, and Neill CA
- Subjects
- Adolescent, Antithrombin III genetics, Drug Resistance, Humans, Male, Thrombosis blood, Thrombosis drug therapy, Antithrombin III Deficiency, Extracorporeal Circulation, Heparin therapeutic use, Thrombosis etiology
- Abstract
Extensive thrombus formation during extracorporeal circulation despite the administration of heparin sodium prompted investigation of a 15-year-old boy with a calcified right ventricular thrombus and a history of subacute bacterial endocarditis. In vitro studies confirmed the failure of heparin in standard doses to have an anticoagulant effect. Antithrombin III concentrations were low. The patient's mother, who had no history of thromboembolic disease, was also antithrombin III deficient. Resistance to heparin is a theoretical, but inconsistently documented, feature of antithrombin III deficiency. This deficiency state should be considered whenever heparin resistance is encountered, even in the absence of a personal and family history of thromboses.
- Published
- 1987
41. Endocardial fibroelastosis and hypoplasia of the left ventricle in neonates without significant aortic stenosis.
- Author
-
Ursell PC, Neill CA, Anderson RH, Ho SY, Becker AE, and Gerlis LM
- Subjects
- Aortic Valve pathology, Aortic Valve Stenosis complications, Aortic Valve Stenosis pathology, Endocardial Fibroelastosis complications, Humans, Infant, Newborn, Mitral Valve pathology, Myocardium pathology, Endocardial Fibroelastosis pathology, Heart Ventricles abnormalities
- Abstract
Endocardial fibroelastosis in neonates with hypoplasia of the left ventricle is usually associated with severe aortic stenosis or atresia. In this study three hearts were examined, in which severe hypoplasia of the left ventricular cavity with myocardial hypertrophy and endocardial fibroelastosis were associated with small but non-stenotic subaortic outflow tracts and aortic valves. These features were contrasted with those of neonatal left heart hypoplasia in aortic stenosis and atresia. The index cases were examples of the very rare contracted form of endocardial fibroelastosis.
- Published
- 1984
- Full Text
- View/download PDF
42. The clinical, biochemical, and familial presentation of type V hyperlipoproteinemia in childhood.
- Author
-
Kwiterovich PO Jr, Farah JR, Brown WV, Bachorik PS, Baylin SB, and Neill CA
- Subjects
- Adult, Amine Oxidase (Copper-Containing) blood, Child, Female, Humans, Hyperlipidemias diet therapy, Lipase blood, Lipoprotein Lipase blood, Lipoproteins, HDL blood, Male, Chylomicrons blood, Hyperlipidemias blood, Hyperlipidemias genetics, Lipoproteins, VLDL blood, Triglycerides blood
- Abstract
Primary type V hyperlipoproteinemia was identified in two preadolescent children. The propositus (kindred N) was a 10-year-old girl with severely creamy plasma, lipemia retinalis, hypertriglyceridemia (triglyceridelevel, 6,800 mg/100 ml), and ypercholesterolemia (cholesterol level, 490 mg/100 ml). Her parents and an 8-year-old sister all had endogenous hypertriglyceridemia (type IV hyperlipoproteinemia). In kindred A, an 11-year-old boy had triglyceride levels as high as 1,100 mg/100 ml and recurrent abdominal pain. His father had type V hyperlipoproteinemia; his mother was normal. All three of his older teenage siblings had type IV hyperlipoproteinemia. The enzymatic activities of lipoprotein lipase (LPL), hepatic triglyceride lipase (HTL), and histaminase (H) were studied in postheparin plasma. The LPL level was low in the children and both parents in kindred N. LPL level in kindred A was normal, except for one child with type IV hyperlipoproteinemia. HTL level was normal to above normal in both kindreds. Most patients had a normal H level, but one parent (kindred N) had no preheparin H and very low levels of postheparin H. There was a strong correlation (r = 0.58, significant at less than 1% level) between release of LPL and H but not between HTL and H (r= 0.22). The mean (+/- 1 S.D.) levels of the enzymes were as follows: LPL, 2.8 +/- 0.7 micronmol/ml/hr in kindred N and 5.4 +/- 2.2 micronmol/ml/hr in kindred A; H, 13.4 +/- 6.8 units/ml in kindred N and 22.0 +/- 11.9 units/ml in kindred A; and HTL, 18.0 +/- 7.1 micronmol/ml/hr in kindred N and 14.9 +/- 6.3 micronmol/ml/hr in kindred A. The enzymatic activities of kindreds N and A were significantly different for LPL (P less than .001) and H (.025 less than P less than .05) but not for HTL. All but one child had at least one high insulin level, which was accompanied by hyperglycemia in two children. The hypertriglyceridemia in all but one child was ameliorated on therapeutic diets. These data suggest that the genetic basis of the hypertriglyceridemia in these two families is different and that hyperchylomicronemia in childhood is not confined to the rara type I hyperliporproteinemia.
- Published
- 1977
43. Congenital heart disease: prevalence at livebirth. The Baltimore-Washington Infant Study.
- Author
-
Ferencz C, Rubin JD, McCarter RJ, Brenner JI, Neill CA, Perry LW, Hepner SI, and Downing JW
- Subjects
- Cardiac Catheterization, Cardiac Surgical Procedures, District of Columbia, Echocardiography, Epidemiologic Methods, Heart Defects, Congenital diagnosis, Humans, Infant, Infant, Newborn, Maryland, United States, Virginia, Heart Defects, Congenital epidemiology
- Abstract
The Baltimore-Washington Infant Study is a regional epidemiologic study of congenital heart disease. Among Infants born in the study area in 1981 and 1982, 664 had a diagnosis of congenital heart disease confirmed in the first year of life by echocardiography, cardiac catheterization, cardiac surgery, or autopsy. The prevalence rate was 3.7/1,000 livebirths for all cases and 2.4/1,000 livebirths for cases confirmed by invasive methods only. Diagnosis-specific prevalence rates of congenital heart disease are compared with those of eight previous case series. Changing diagnostic categorizations in the time span covered and methodological differences resulted in great variation of the data. However, the data of the New England Infant Cardiac Program which used the same case discovery methods showed similar occurrences of major morphologic abnormalities, suggesting that these are stable basic estimates in the eastern United States. For all case series, the rate of confirmed congenital heart disease was approximately 4/1,000 livebirths over the 40-year time span.
- Published
- 1985
- Full Text
- View/download PDF
44. Long-term valvular function after total repair of tetralogy of Fallot. Relation to ventricular arrhythmias.
- Author
-
Zahka KG, Horneffer PJ, Rowe SA, Neill CA, Manolio TA, Kidd L, and Gardner TJ
- Subjects
- Adult, Echocardiography, Doppler, Electrocardiography, Heart Valve Diseases etiology, Heart Valve Diseases physiopathology, Humans, Postoperative Period, Prospective Studies, Tetralogy of Fallot physiopathology, Time Factors, Ventricular Outflow Obstruction etiology, Ventricular Outflow Obstruction physiopathology, Arrhythmias, Cardiac etiology, Heart Valves physiopathology, Postoperative Complications, Tetralogy of Fallot surgery
- Abstract
Patients with total repair of tetralogy of Fallot may have residual valvular dysfunction, the long-term effect of which is poorly defined. We prospectively studied 59 patients for 18 +/- 5 (mean +/- SD) years postoperatively by Doppler echocardiography and by 24-hour electrocardiographic monitoring. Right ventricular outflow gradients were estimated from the peak continuous-wave Doppler pulmonary artery velocity. The severity of valvular regurgitation was determined by mapping the proximal chamber by pulsed Doppler methods. Right ventricular diastolic cavity area was measured by planimetry of the apical image. The right ventricular outflow tract gradient had a mean value of 9.4 +/- 9.0 mm Hg (range, 0-58 mm Hg; median, 6.6 mm Hg). Pulmonary regurgitation was present in 78% of patients, with 59% of patients graded as mild and 19% as moderate. Tricuspid regurgitation was found in 65% of patients, with 56% of patients graded as mild, 7% as moderate, and 2% as severe. The severity of pulmonary regurgitation correlated with right ventricular cavity area (p less than 0.05). The severity of tricuspid regurgitation was not related to pulmonary stenosis or to the severity of pulmonary regurgitation. Aortic regurgitation is unusual (n = 11) and correlates with aortic root size. The frequency and type of ventricular arrhythmia were not related to the severity of pulmonary stenosis; however, ventricular bigeminy and couplets were related to the severity of pulmonary regurgitation (p less than 0.025). The majority of patients with total repair of tetralogy of Fallot have remarkably good long-term valvular function. For the minority with moderate or severe valvular dysfunction, pulmonary regurgitation is the best marker for ventricular arrhythmias.
- Published
- 1988
45. Early detection of congenital cardiovascular malformations in infancy.
- Author
-
Rubin JD, Ferencz C, Brenner JI, Neill CA, and Perry LW
- Subjects
- Catchment Area, Health, District of Columbia, Female, Heart Defects, Congenital diagnosis, Humans, Infant, Newborn, Male, Maryland, Heart Defects, Congenital epidemiology, Regional Medical Programs
- Abstract
In an ongoing population-based study of congenital cardiovascular malformations in the Baltimore-Washington, DC, area, 1527 affected infants were ascertained from multiple sources during the years 1981 to 1984. Ninety-eight percent were evaluated at a regional pediatric cardiology center. Among the unreferred cases, in which the cardiac defect was diagnosed only at autopsy, most infants died in the first week of life and had associated problems, such as low birth weight, major noncardiac malformations, or other life-threatening illnesses, but a few infants with potentially remediable heart disease escaped clinical detection. Until preventive measures become available, reduction of infant mortality due to congenital cardiovascular malformations will continue to depend on early recognition of signs of serious heart disease in infants and on effective community-wide use of specialized cardiac services.
- Published
- 1987
- Full Text
- View/download PDF
46. Rhabdomyoma of the heart producing right bundle branch block.
- Author
-
Dubois RW, Neill CA, and Hutchins GM
- Subjects
- Bundle of His pathology, Female, Heart Neoplasms pathology, Humans, Infant, Newborn, Myocardium pathology, Rhabdomyoma pathology, Bundle-Branch Block etiology, Heart Neoplasms complications, Rhabdomyoma complications
- Abstract
A 4-day-old female had an uneventful prenatal course and delivery. Immediate cyanosis improved with oxygen therapy. Cardiomegaly on chest radiograph, right bundle branch block on electrocardiogram, and apparent increased tricuspid valve excursion on echocardiography led to a diagnosis of Ebstein's anomaly. Death occurred unexpectedly. Autopsy demonstrated a rhabdomyoma of the interventricular septum, which had produced obstruction to right ventricular outflow and had interrupted the right bundle branch of the conducting system. It appears that the massive size of the septal tumor led to its misdiagnosis on the echocardiogram.
- Published
- 1983
- Full Text
- View/download PDF
47. Letter: Congenital heart defects and prenatal sex hormones.
- Author
-
Mulvihill JJ, Mulvihill CG, and Neill CA
- Subjects
- Abortion, Spontaneous prevention & control, Child, Preschool, Contraceptives, Oral adverse effects, Female, Fetus drug effects, Gonadal Steroid Hormones therapeutic use, Humans, Infertility, Female drug therapy, Male, Maternal-Fetal Exchange, Pregnancy, Retrospective Studies, Gonadal Steroid Hormones adverse effects, Heart Septal Defects, Ventricular chemically induced, Transposition of Great Vessels chemically induced
- Published
- 1974
- Full Text
- View/download PDF
48. Left axis deviation in tricuspid atresia and single ventricle; the electrocardiogram in 36 autopsied cases.
- Author
-
NEILL CA and BRINK AJ
- Subjects
- Humans, Cardiovascular Abnormalities, Cardiovascular Diseases, Electrocardiography, Heart Ventricles, Tricuspid Atresia, Tricuspid Valve abnormalities
- Published
- 1955
- Full Text
- View/download PDF
49. The familial occurrence of hypoplastic right lung with systemic arterial supply and venous drainage "scimitar syndrome".
- Author
-
NEILL CA, FERENCZ C, SABISTON DC, and SHELDON H
- Subjects
- Humans, Arteries, Drainage, Lung abnormalities, Respiratory System Abnormalities, Scimitar Syndrome
- Published
- 1960
50. The contour of the right atrial wave in twenty-seven cases of atrial septal defect and in other cardiac conditions.
- Author
-
HAROUTUNIAN LM, NEILL CA, and OTIS AB
- Subjects
- Humans, Disease, Electrocardiography, Heart Defects, Congenital, Heart Failure diagnosis, Heart Septal Defects, Heart Septal Defects, Atrial, Heart Septum abnormalities, Tricuspid Valve
- Published
- 1958
Catalog
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