Browsing by keyword "Work Group on Substance Abuse Disorders"

Now showing items 1-6 of 6

    • Clinical practice. Idiopathic short stature
      Lee, Mary M. (2006-06-16)

    • Clinical review 117: Hormonal determinants and disorders of peak bone mass in children
      Soyka, Leslie A.; Fairfield, Wesley P.; Klibanski, Anne (2000-11-30)

    • Evaluation of short and tall stature in children
      Nwosu, Benjamin U.; Lee, Mary M. (2008-09-16)
      Children and adolescents whose heights and growth velocities deviate from the normal percentiles on standard growth charts present a special challenge to physicians. Height that is less than the 3rd percentile or greater than the 97th percentile is deemed short or tall stature, respectively. A growth velocity outside the 25th to 75th percentile range may be considered abnormal. Serial height measurements over time documented on a growth chart are key in identifying abnormal growth. Short or tall stature is usually caused by variants of a normal growth pattern, although some patients may have serious underlying pathologies. A comprehensive history and physical examination can help differentiate abnormal growth patterns from normal variants and identify specific dysmorphic features of genetic syndromes. History and physical examination findings should guide laboratory testing.

    • Growth hormone therapy improves growth in children with cystic fibrosis related liver disease
      Stalvey, Michael S.; Torrez, Daniel M.; Hillan, Jennifer; Gonzalez-Perez, Regino P.; Haafiz, Allah; Rosenbloom, Arlan L. (2008-08-02)
      Growth impairment in cystic fibrosis (CF) is worsened by liver disease. Children with CF have serum levels of insulin-like growth factor-I (IGF-I) that are lower than expected for their normal growth hormone (GH) production. In children with CF-related liver disease (CFLD), response to endogenous GH is further reduced. We present our experience with two young children with CFLD given recombinant human GH (rhGH). The first patient was a 5 year-old female with CFLD and poor growth who responded well for 1 1/2 years to rhGH therapy during her initial course and without a significant increase in serum IGF-I, but with a substantial increase in IGF-I concentration when the GH dose was increased. The second patient was a 5 month-old male with advanced liver disease who had transient improved growth and liver function following rhGH. These patients suggest that rhGH is safe and may be effective in children with CFLD.

    • Pediatrics for Parents Podcast Show 107: Short Stature (Audio File)
      Nwosu, Benjamin U. (2010-10-24)
      Interview (mp3 audio file, 13 MB, 29 minutes) by Benjamin Nwosu, MD with Rich Sagall, MD, editor and host of the "Pediatrics for Parents Podcast", October 24, 2010. Dr. Nwosu was interviewed about an article that he and Mary Lee, MD, wrote on the diagnosis and treatment of short and tall stature in children.

    • Quantitative assessment of craniofacial morphology in Johanson-Blizzard syndrome
      Deutsch, Curtis K.; Hreczko, Tania; Holmes, Lewis B. (2013-03-06)
      BACKGROUND: Here we apply objective, reliable methods of dysmorphology diagnosis to a patient with Johanson-Blizzard syndrome (MIM #243800). Using an extensive normative database, we computed standardized scores on a graded continuum for operational definitions of nasal alar hypoplasia, a commonly observed feature of this condition. CASE: Most of these measurements in this case were greater than 2 standard deviations below the mean, adjusted for age, gender, and ethnicity. CONCLUSION: This report provides a worked example of quantitative anthropometric assessment in the context of a case report, using tools that may find general application in clinical genetics.