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1975 1
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2003 3
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45 results

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Page 1
Neonatal screening for primary and central congenital hypothyroidism: is it time to go Dutch?
Boelen A, Zwaveling-Soonawala N, Heijboer AC, van Trotsenburg ASP. Boelen A, et al. Eur Thyroid J. 2023 Jul 27;12(4):e230041. doi: 10.1530/ETJ-23-0041. Eur Thyroid J. 2023. PMID: 37326450 Free PMC article. Review.
Although the necessity of central CH detection by NBS is still under debate, it has been shown that most central CH patients have moderate-to-severe hypothyroidism instead of mild and that early detection of central CH by NBS probably improves its clinical outcome and clin …
Although the necessity of central CH detection by NBS is still under debate, it has been shown that most central CH patients have moderat …
Growth and growth hormone treatment in short stature children born small for gestational age.
Labarta JI, Ruiz JA, Molina I, De Arriba A, Mayayo E, Longás AF. Labarta JI, et al. Pediatr Endocrinol Rev. 2009 Feb;6 Suppl 3:350-7. Pediatr Endocrinol Rev. 2009. PMID: 19404234 Review.
Persistent short stature is one of the most frequent complications of being born small for gestational age (SGA) as almost 15% of such children have a low adult height. ...GH appears to be safe at the current doses employed but monitoring of IGF-I, IGFBP-3 and gluco …
Persistent short stature is one of the most frequent complications of being born small for gestational age (SGA) as almost 15% …
Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review.
Bizaoui V, Michot C, Baujat G, Amouroux C, Baron S, Capri Y, Cohen-Solal M, Collet C, Dieux A, Geneviève D, Isidor B, Monnot S, Rossi M, Rothenbuhler A, Schaefer E, Cormier-Daire V. Bizaoui V, et al. Clin Genet. 2019 Oct;96(4):309-316. doi: 10.1111/cge.13591. Epub 2019 Jun 25. Clin Genet. 2019. PMID: 31237352 Review.
Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro-osteolysis, facial features and an increased risk of fractures. ...All patients showed short stature (mean = -3.5 SD) which was m …
Pycnodysostosis is a lysosomal autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro-ost …
Schmid's Type of Metaphyseal Chondrodysplasia: Diagnosis and Management.
Al Kaissi A, Ghachem MB, Nabil NM, Kenis V, Melchenko E, Morenko E, Grill F, Ganger R, Kircher SG. Al Kaissi A, et al. Orthop Surg. 2018 Aug;10(3):241-246. doi: 10.1111/os.12382. Epub 2018 Jul 19. Orthop Surg. 2018. PMID: 30027601 Free PMC article.
METHODS: Twelve children (seven girls and five boys) aged 7-10 years were enrolled in this study. Moderate short stature was a uniform feature associated with predominant involvement of the proximal femora and bow legs resulted in the development of angular d …
METHODS: Twelve children (seven girls and five boys) aged 7-10 years were enrolled in this study. Moderate short stature …
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection.
Braslavsky D, Méndez MV, Prieto L, Keselman A, Enacan R, Gruñeiro-Papendieck L, Jullien N, Savenau A, Reynaud R, Brue T, Bergadá I, Chiesa A. Braslavsky D, et al. Horm Res Paediatr. 2017;88(3-4):274-280. doi: 10.1159/000480293. Epub 2017 Sep 12. Horm Res Paediatr. 2017. PMID: 28898885 Free article.
According to initial free T4 measurements, CCH patients had moderate hypothyroidism. CONCLUSIONS: Adding T4 to TSH measurements enabled the identification of CCH as a prevalent condition and contributed to improving the care of newborns with congenital hypopituitari …
According to initial free T4 measurements, CCH patients had moderate hypothyroidism. CONCLUSIONS: Adding T4 to TSH measurements enabl …
Recombinant human growth hormone in the treatment of patients with cystic fibrosis.
Phung OJ, Coleman CI, Baker EL, Scholle JM, Girotto JE, Makanji SS, Chen WT, Talati R, Kluger J, White CM. Phung OJ, et al. Pediatrics. 2010 Nov;126(5):e1211-26. doi: 10.1542/peds.2010-2007. Epub 2010 Oct 4. Pediatrics. 2010. PMID: 20921071 Review.
CONTEXT: Recombinant human growth hormone (rhGH) improves growth in patients with growth hormone deficiency or idiopathic short stature. Its role in patients with cystic fibrosis (CF) is unclear. ...There is insufficient evidence to determine the effect of rhGH on i …
CONTEXT: Recombinant human growth hormone (rhGH) improves growth in patients with growth hormone deficiency or idiopathic short st …
Growth hormone treatment in children with short stature: impact of the diagnosis on parents.
Witt S, Bloemeke J, Bullinger M, Dörr HG, Silva N, Quitmann JH. Witt S, et al. J Pediatr Endocrinol Metab. 2024 Mar 1;37(4):326-335. doi: 10.1515/jpem-2023-0420. Print 2024 Apr 25. J Pediatr Endocrinol Metab. 2024. PMID: 38421314
METHODS: A total of 110 parents of children aged 4-18 years, diagnosed with idiopathic growth hormone deficiency, small for gestational age, or idiopathic short stature, were recruited from 11 participating German pediatric endocrinologists and asked to fill out the …
METHODS: A total of 110 parents of children aged 4-18 years, diagnosed with idiopathic growth hormone deficiency, small for gestational age, …
Provider variability in the initial diagnosis and treatment of congenital hypothyroidism.
Cielonko L, Hamby T, Dallas JS, Hamilton L, Wilson DP. Cielonko L, et al. J Pediatr Endocrinol Metab. 2017 May 1;30(5):583-586. doi: 10.1515/jpem-2016-0326. J Pediatr Endocrinol Metab. 2017. PMID: 28328531
However, despite guidelines advocating their use, practitioners reported that they did not commonly use imaging or laboratory tests, though experienced providers apparently used them more often. CONCLUSIONS: Together, these results show moderate adherence to published guid …
However, despite guidelines advocating their use, practitioners reported that they did not commonly use imaging or laboratory tests, though …
Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.
Gumus E, Karhan AN, Hizarcioglu-Gulsen H, Demir H, Ozen H, Saltik Temizel IN, Dokmeci Emre S, Yuce A. Gumus E, et al. Eur J Med Genet. 2021 Nov;64(11):104339. doi: 10.1016/j.ejmg.2021.104339. Epub 2021 Sep 6. Eur J Med Genet. 2021. PMID: 34500086
Compound heterozygosity of N370S and L444P homozygosity were the dominant genotypes in Turkish children with GD1 and GD3, respectively. None of the patients had moderate to severe thrombocytopenia at last follow-up while the percent of patients with anemia decreased from 6 …
Compound heterozygosity of N370S and L444P homozygosity were the dominant genotypes in Turkish children with GD1 and GD3, respectively. None …
Neonatal Screening for Congenital Hypothyroidism in Preterm Infants: Is a Targeted Strategy Required?
Tuli G, Munarin J, Topalli K, Pavanello E, de Sanctis L. Tuli G, et al. Thyroid. 2023 Apr;33(4):440-448. doi: 10.1089/thy.2022.0495. Epub 2023 Mar 17. Thyroid. 2023. PMID: 36802847 Free article.

Based on gestational age, the mean TSH at first detection was 1.71 0.09 mUI/L for extremely preterm babies and 1.87 0.06, 1.94 0.05, and 2.42 0.02 mUI/L for very preterm, moderately, and late preterm infants (p < 0.005), respectively. Significant between-group differenc

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Based on gestational age, the mean TSH at first detection was 1.71 0.09 mUI/L for extremely preterm babies and 1.87 0.06, 1.94 0.05, and 2.4 …
45 results