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Quoted phrase not found in phrase index: "Short stature-brachydactyly-obesity-global developmental delay syndrome"
Page 1
Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement.
Mantovani G, Bastepe M, Monk D, de Sanctis L, Thiele S, Usardi A, Ahmed SF, Bufo R, Choplin T, De Filippo G, Devernois G, Eggermann T, Elli FM, Freson K, García Ramirez A, Germain-Lee EL, Groussin L, Hamdy N, Hanna P, Hiort O, Jüppner H, Kamenický P, Knight N, Kottler ML, Le Norcy E, Lecumberri B, Levine MA, Mäkitie O, Martin R, Martos-Moreno GÁ, Minagawa M, Murray P, Pereda A, Pignolo R, Rejnmark L, Rodado R, Rothenbuhler A, Saraff V, Shoemaker AH, Shore EM, Silve C, Turan S, Woods P, Zillikens MC, Perez de Nanclares G, Linglart A. Mantovani G, et al. Nat Rev Endocrinol. 2018 Aug;14(8):476-500. doi: 10.1038/s41574-018-0042-0. Nat Rev Endocrinol. 2018. PMID: 29959430 Free PMC article. Review.
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short sta …
This Consensus Statement covers recommendations for the diagnosis and management of patients with pseudohypoparathyroidism (PHP) and related …
Growth in girls with Turner syndrome.
Isojima T, Yokoya S. Isojima T, et al. Front Endocrinol (Lausanne). 2023 Jan 12;13:1068128. doi: 10.3389/fendo.2022.1068128. eCollection 2022. Front Endocrinol (Lausanne). 2023. PMID: 36714599 Free PMC article. Review.
Turner syndrome (TS) is a chromosomal disorder affecting females characterized by short stature and gonadal dysgenesis. ...They are born a little smaller than the normal population possibly due to a mild developmental delay in the uterus. After birth, …
Turner syndrome (TS) is a chromosomal disorder affecting females characterized by short stature and gonadal dysgenesis. ...The …
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Backeljauw PF, Andrews M, Bang P, Dalle Molle L, Deal CL, Harvey J, Langham S, Petriczko E, Polak M, Storr HL, Dattani MT. Backeljauw PF, et al. Orphanet J Rare Dis. 2023 Oct 7;18(1):312. doi: 10.1186/s13023-023-02928-7. Orphanet J Rare Dis. 2023. PMID: 37805563 Free PMC article. Review.
Laron syndrome is the best characterized form of SPIGFD, caused by a defect in the GH receptor (GHR) gene. ...Patients often face difficulties associated with receiving a formal diagnosis, delayed treatment initiation and limited access to appropriate therapy. ...
Laron syndrome is the best characterized form of SPIGFD, caused by a defect in the GH receptor (GHR) gene. ...Patients often face dif …
Neonatal abstinence syndrome: treatment and pediatric outcomes.
Logan BA, Brown MS, Hayes MJ. Logan BA, et al. Clin Obstet Gynecol. 2013 Mar;56(1):186-92. doi: 10.1097/GRF.0b013e31827feea4. Clin Obstet Gynecol. 2013. PMID: 23314720 Free PMC article. Review.
Recent rise in rates of opiate replacement therapy among pregnant women have resulted in increasing number of infants requiring treatment for neonatal abstinence syndrome (NAS). Short-term and long-term developmental outcomes associated with prenatal opiate e …
Recent rise in rates of opiate replacement therapy among pregnant women have resulted in increasing number of infants requiring treatment fo …
Early psychomotor development and growth hormone therapy in children with Prader-Willi syndrome: a review.
Jin YY, Luo FH. Jin YY, et al. Eur J Pediatr. 2024 Mar;183(3):1021-1036. doi: 10.1007/s00431-023-05327-z. Epub 2023 Nov 21. Eur J Pediatr. 2024. PMID: 37987848 Review.
Recombinant human growth hormone therapy is the only medical treatment approved for Prader-Willi syndrome. What is New: Extensive presentation of psycho-cognitive and motor development features and genotype-phenotype correlation in children with Prader-Willi syndrome …
Recombinant human growth hormone therapy is the only medical treatment approved for Prader-Willi syndrome. What is New: Extensive pre …
Hyperinsulinism in infancy and childhood: when an insulin level is not always enough.
Palladino AA, Bennett MJ, Stanley CA. Palladino AA, et al. Clin Chem. 2008 Feb;54(2):256-63. doi: 10.1373/clinchem.2007.098988. Epub 2007 Dec 21. Clin Chem. 2008. PMID: 18156285 Review.
BACKGROUND: Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperinsulinism (HI) is the most common cause of both transient and permanent disorders of hypoglycemia. ...CONTENT: Congenital hyperinsulinism is …
BACKGROUND: Hypoglycemia in infants and children can lead to seizures, developmental delay, and permanent brain damage. Hyperi …
Focus on: neurotransmitter systems.
Valenzuela CF, Puglia MP, Zucca S. Valenzuela CF, et al. Alcohol Res Health. 2011;34(1):106-20. Alcohol Res Health. 2011. PMID: 23580048 Free PMC article. Review.
Neurotransmitter systems have been long recognized as important targets of the developmental actions of alcohol (i.e., ethanol). Short- and long-term effects of ethanol on amino acid (e.g., gamma-aminobutyric acid and glutamate) and biogenic amine (e.g., serotonin a …
Neurotransmitter systems have been long recognized as important targets of the developmental actions of alcohol (i.e., ethanol). S …
Cognitive and Behavioral Impact on Children Exposed to Opioids During Pregnancy.
Larson JJ, Graham DL, Singer LT, Beckwith AM, Terplan M, Davis JM, Martinez J, Bada HS. Larson JJ, et al. Pediatrics. 2019 Aug;144(2):e20190514. doi: 10.1542/peds.2019-0514. Epub 2019 Jul 18. Pediatrics. 2019. PMID: 31320466 Free PMC article. Review.
The developmental impact of opioid use during pregnancy is a subject of ongoing debate. Short-term neonatal outcomes, such as lower birth weight and neonatal abstinence syndrome, are the most well-recognized outcomes. ...
The developmental impact of opioid use during pregnancy is a subject of ongoing debate. Short-term neonatal outcomes, such as …
Neurodevelopment in children with intrauterine growth restriction: adverse effects and interventions.
Wang Y, Fu W, Liu J. Wang Y, et al. J Matern Fetal Neonatal Med. 2016;29(4):660-8. doi: 10.3109/14767058.2015.1015417. Epub 2015 Mar 23. J Matern Fetal Neonatal Med. 2016. PMID: 25758617 Review.
Intrauterine growth restriction (IUGR) is associated with higher rates of fetal, perinatal, and neonatal morbidity and mortality. The consequences of IUGR include short-term metabolic, hematological and thermal disturbances that lead to metabolic syndrome in childre …
Intrauterine growth restriction (IUGR) is associated with higher rates of fetal, perinatal, and neonatal morbidity and mortality. The conseq …
Ventilation tubes (grommets) for otitis media with effusion (OME) in children.
MacKeith S, Mulvaney CA, Galbraith K, Webster KE, Connolly R, Paing A, Marom T, Daniel M, Venekamp RP, Rovers MM, Schilder AG. MacKeith S, et al. Cochrane Database Syst Rev. 2023 Nov 15;11(11):CD015215. doi: 10.1002/14651858.CD015215.pub2. Cochrane Database Syst Rev. 2023. PMID: 37965944 Review.
It may cause hearing loss which, when persistent, may lead to developmental delay, social difficulty and poor quality of life. Management includes watchful waiting, autoinflation, medical and surgical treatment. ...We did not identify any data on disease-specific qu …
It may cause hearing loss which, when persistent, may lead to developmental delay, social difficulty and poor quality of life. …
82 results