Publications by authors named "J Ortenberg"

Article Synopsis
  • * Approximately 25% of those with these variants exhibited a Noonan-like phenotype, notably more than traditional NF1 patients (p < .0001), with p.Arg1276 and p.Lys1423 linked to serious cardiovascular issues.
  • * The p.Met1149 variant presented a milder phenotype mainly with skin symptoms, affecting 0.4% of the UAB cohort, highlighting important genotype-phenotype correlations that can improve patient counseling and
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Background: Clean intermittent catheterization (CIC) is frequently prescribed for bladder dysfunction, either per urethra or via a continent catheterizable channel. Small catheters may be required for infants or continent channels. Success with CIC is highly dependent upon patient and family compliance.

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Purpose: Children with Down syndrome are at risk for lower urinary tract dysfunction and delayed toilet training. Comparative studies regarding voiding function in the Down syndrome population are lacking. We assessed urinary continence and voiding function in patients with Down syndrome and a control group.

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Purpose: "Jaffe-Campanacci syndrome" describes the complex of multiple nonossifying fibromas of the long bones, mandibular giant cell lesions, and café-au-lait macules in individuals without neurofibromas. We sought to determine whether Jaffe-Campanacci syndrome is a distinct genetic entity or a variant of neurofibromatosis type 1.

Methods: We performed germline NF1, SPRED1, and GNAS1 (exon 8) mutation testing on patients with Jaffe-Campanacci syndrome or Jaffe-Campanacci syndrome-related features.

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Purpose: Several states, including Louisiana since 2005, no longer cover elective circumcision under Medicaid programs. The recent AAP (American Academy of Pediatrics) policy statement recognizes the medical benefits of circumcision and recommends the removal of financial barriers to this procedure. Cost savings are a factor in the limitation of circumcision coverage, although to our knowledge the actual cost savings to Medicaid programs have not been reported.

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