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Unbound Medicine.
(Donohue's syndrome)
220 results
  • REGN-COV2, a Neutralizing Antibody Cocktail, in Outpatients with Covid-19. [Journal Article]
    N Engl J Med. 2021 01 21; 384(3):238-251.Weinreich DM, Sivapalasingam S, … Trial Investigators
  • CONCLUSIONS: In this interim analysis, the REGN-COV2 antibody cocktail reduced viral load, with a greater effect in patients whose immune response had not yet been initiated or who had a high viral load at baseline. Safety outcomes were similar in the combined REGN-COV2 dose groups and the placebo group. (Funded by Regeneron Pharmaceuticals and the Biomedical and Advanced Research and Development Authority of the Department of Health and Human Services; ClinicalTrials.gov number, NCT04425629.).
  • Ultra-rapid emergency genomic diagnosis of Donahue syndrome in a preterm infant within 17 hours. [Journal Article]
    Am J Med Genet A. 2021 01; 185(1):90-96.Bamborschke D, Özdemir Ö, … Cirak S
  • Genetic diseases are a major cause of neonatal morbidity and mortality. The clinical differential diagnosis in severely ill neonates, especially in premature infants, is challenging. Next generation sequencing (NGS) diagnostics is a valuable tool, but the turnaround time is often too long to provide a diagnosis in the time needed for clinical guidance in newborn intensive care units (NICU). To mi…
  • Clinical characteristics and outcomes in elderly patients undergoing transsphenoidal surgery for nonfunctioning pituitary adenoma. [Journal Article]
    Neurosurg Focus. 2020 10; 49(4):E19.Pereira MP, Oh T, … Aghi MK
  • CONCLUSIONS: The authors' analysis revealed that TSS for NFPA in elderly patients is safe with low complication rates. In this cohort, more elderly patients experienced postoperative hyponatremia, while more nonelderly patients experienced postoperative DI. These findings, combined with the observation of higher DI in patients with more comorbidities and elderly patients experiencing later peaks and troughs in serum sodium, suggest age-related differences in sodium regulation after NFPA resection. The authors hope that their results will help guide discussions with elderly patients regarding risks and outcomes of TSS.
  • A Rare Case of Non-Traumatic Thoracic Compression Fracture In A 28-Year-Old Male. [Journal Article]
    Am J Phys Med Rehabil. 2020 Jul 01 [Online ahead of print]Donohue NK, Braza DW
  • A 28-year-old African American male with a history of synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome, tobacco use, and sickle cell trait was referred to a physiatrist at a multidisciplinary spine center with a one-year history of non-traumatic thoracic back pain that had significantly worsened over the prior four weeks. In the context of recurrent infections requiring ho…
  • Homozygous mutation in the insulin receptor gene and mild form of insulin resistance syndrome; a case report [Journal Article]
    J Clin Res Pediatr Endocrinol. 2020 Feb 05 [Online ahead of print]Hacıhamdioğlu B, Baş EG, Delil K
  • Insulin receptor mutations lead to heterogeneous disorders; as severe as Donohue syndrome or as mild as “type A insulin resistance syndrome”. Patients with severe disorders are homozygous or compound heterozygous mutations. Generally patients with type A insulin resistance syndrome have been found to be heterozygous mutations, homozygous type mutations may rarely be responsible for this disease. …
  • Spectral Analysis of Codons in the DNA Sequence of Fragile X Syndrome. [Journal Article]
    J Med Syst. 2019 Jul 02; 43(8):261.S JB, P B
  • There are frequent studies undergoing related to the Fragile X syndrome caused due to the triplet CGG replicates on the X chromosome of Fragile X Mental Retardation 1 (FMR1) gene. Mutations of this chromosome can lead to Fragile X syndrome, rational disability, and other cognitive discrepancies. A novel approach based on Rajan Transform is proposed to analyze the spectral density of codons. The t…
  • Extubation Failure Rates After Pediatric Cardiac Surgery Vary Across Hospitals. [Multicenter Study]
    Pediatr Crit Care Med. 2019 05; 20(5):450-456.Rooney SR, Donohue JE, … Gaies MG
  • CONCLUSIONS: We saw no evidence that hospitals trade higher extubation failure rates for shorter duration of postoperative mechanical ventilation after pediatric cardiac surgery. Increasing specialized cardiac ICU nursing hours per patient day may achieve better extubation outcomes and mitigate the impact of inexperienced nurses.
  • A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene. [Case Reports]
    Turk Pediatri Ars. 2017 Dec; 52(4):226-230.Kirel B, Bozdağ Ö, … Tekin N
  • Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presente…
  • GeneReviews®: INSR-Related Severe Syndromic Insulin Resistance [BOOK]
    GeneReviews®. University of Washington, Seattle: Seattle (WA)Adam MP, Ardinger HH, … Amemiya ABen Harouch S, Klar A, … Falik Zaccai TCBOOK
  • INSR-related severe syndromic insulin resistance comprises a phenotypic spectrum that is a continuum from the severe phenotype Donohue syndrome (DS) (also known as leprechaunism) to the milder phenotype Rabson-Mendenhall syndrome (RMS). DS at the severe end of the spectrum is characterized by severe insulin resistance (hyperinsulinemia with associated fasting hypoglycemia and postprandial hypergl…
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