Amanda M Jacobs

Albert Einstein College of Medicine, New York City, NY, United States

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Publications (3)12.76 Total impact

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    ABSTRACT: Marfan syndrome is an autosomal dominant disorder of connective tissue caused by mutations in the fibrillin 1 gene (FBN1). FBN1 mutations have been associated with a broad spectrum of phenotypes. Neonatal Marfan syndrome has unique clinical manifestations and mutations. To determine if there is a discernible genotypic-phenotypic correlation associated with the unique mutation in neonatal Marfan syndrome. A newborn exhibited many typical characteristics of neonatal Marfan syndrome, including arachnodactyly; contractures of both elbows, knees, and ankles; small-joint laxity; dilated cardiomyopathy; valvular dysplasia and insufficiency; congestive heart failure; and pulmonary emphysema. Three atypical features were also discovered: a right diaphragmatic hernia, a myocardial mass, and left main-stem bronchomalacia. She died at 3(1/2) months of age. Total RNA was extracted from skin fibroblasts and amplified by means of reverse transcriptase polymerase chain reaction amplification with FBN1-specific primers. The complementary DNA fragments were sequenced. A single T-to-C transition at nucleotide 3276 (T3276C) was identified and confirmed at the DNA level by sequencing of genomic DNA. This results in a substitution of threonine for isoleucine. Neonatal Marfan syndrome is a unique clinical entity with recurring mutation hot spots in exons 24 to 27 and 31 to 32 of the FBN1 gene. Some clinical features in this case report are unusual for neonatal Marfan syndrome. This is the third report of this T3276C mutation in the FBN1 gene with unusual clinical manifestations. We conclude that there is a genotypic-phenotypic correlation associated with this mutation.
    Archives of Pediatrics and Adolescent Medicine 12/2002; 156(11):1081-5. DOI:10.1001/archpedi.156.11.1081 · 4.25 Impact Factor
  • Karen L Warman, Amanda M Jacobs, Ellen J Silver
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    ABSTRACT: Asthma is a major cause of morbidity in the United States. Self-management of asthma requires access to appropriate equipment. Clinical experience in an inner-city practice suggests that families encounter difficulties in filling prescriptions for spacers/holding chambers, peak flow (PF) meters, and nebulizer machines. To determine whether Bronx, NY, pharmacies (1) carry spacers/holding chambers, PF meters, and nebulizer machines; (2) accept Medicaid insurance for them; and (3) perceive barriers to reimbursement by Medicaid for this equipment. Structured telephone survey of 100 Bronx pharmacies randomly selected from the 1999 telephone directory. Ninety-eight pharmacists and 2 pharmacy technicians in 100 different pharmacies. Pharmacists' reports of equipment availability, Medicaid acceptance, and reasons for not carrying equipment or accepting Medicaid. Overall equipment availability was as follows: spacers (68%), spacers with masks (57%), adult PF meters (40%), child-range PF meters (24%), and nebulizer machines (56%). For Medicaid recipients, equipment was less available: spacers (45%), spacers with masks (35%), adult PF meters (27%), child-range PF meters (17%), and nebulizer machines (33%). Surveyed pharmacists reported misconceptions about requirements for Medicaid reimbursement, which included the following: that Durable Medical Equipment permits are required (64% spacers and 33% PF meters), that special forms are needed (17% PF meters), or that this equipment is not covered by Medicaid (14% spacers and 8% PF meters). Of the 100 surveyed pharmacists, 32 reported difficulties with Medicaid reimbursement and 41 had never tried to receive reimbursement. These results suggest that (1) access to spacers/holding chambers, PF meters, and nebulizers for Medicaid-insured families is severely limited in Bronx pharmacies; (2) misunderstandings regarding Medicaid reimbursement policies are common; and (3) interventions to increase the proportion of pharmacies that dispense equipment are needed.
    Archives of Pediatrics and Adolescent Medicine 08/2002; 156(7):673-7. · 4.25 Impact Factor
  • Karen L. Warman, Amanda M. Jacobs, Ellen J. Silver
    Archives of Pediatrics and Adolescent Medicine 07/2002; 156(7):673. DOI:10.1001/archpedi.156.7.673 · 4.25 Impact Factor