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Management of Self-injurious Behaviors in Children with Neurodevelopmental Disorders: A Pharmacotherapy Overview.
Sabus A, Feinstein J, Romani P, Goldson E, Blackmer A. Sabus A, et al. Pharmacotherapy. 2019 Jun;39(6):645-664. doi: 10.1002/phar.2238. Epub 2019 Mar 27. Pharmacotherapy. 2019. PMID: 30793794 Free PMC article. Review.
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesch-Nyhan disease, cri du chat syndrome, Prader-Willi syndrome, pervasive developmental disorders, fragile X syndrome, Re …
Neurodevelopmental disorders encompass a heterogeneous group of disorders including, but not limited to, Smith-Magenis syndrome, Lesc …
Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond.
Barili V, Ambrosini E, Uliana V, Bellini M, Vitetta G, Martorana D, Cannizzaro IR, Taiani A, De Sensi E, Caggiati P, Hilton S, Banka S, Percesepe A. Barili V, et al. Genes (Basel). 2023 Jun 10;14(6):1241. doi: 10.3390/genes14061241. Genes (Basel). 2023. PMID: 37372421 Free PMC article.
In this article, we described three selected cases from a cohort of patients with NDD in which trio WES was applied, in order to underline the typical challenges encountered during the diagnostic process: (1) an ultra-rare condition caused by a missense variant in MEIS2, identifi …
In this article, we described three selected cases from a cohort of patients with NDD in which trio WES was applied, in order to underline t …
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
Gallagher D, Pérez-Palma E, Bruenger T, Ghanty I, Brilstra E, Ceulemans B, Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R, Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S, Zuberi SM, Lal D, Brunklaus A. Gallagher D, et al. Epilepsia. 2024 Apr;65(4):1046-1059. doi: 10.1111/epi.17882. Epub 2024 Feb 27. Epilepsia. 2024. PMID: 38410936
OBJECTIVE: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to severe Dravet syndrome (DS). Many variants are de novo, making early phenotype prediction difficult, and genotype-phenotype asso …
OBJECTIVE: SCN1A variants are associated with epilepsy syndromes ranging from mild genetic epilepsy with febrile seizures plus (GEFS+) to se …
Genotype-phenotype correlations in Cornelia de Lange syndrome: Behavioral characteristics and changes with age.
Moss J, Penhallow J, Ansari M, Barton S, Bourn D, FitzPatrick DR, Goodship J, Hammond P, Roberts C, Welham A, Oliver C. Moss J, et al. Am J Med Genet A. 2017 Jun;173(6):1566-1574. doi: 10.1002/ajmg.a.38228. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28425213 Free article.
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, limb abnormalities, a wide range of health conditions, and intellectual disability. ...
Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder associated with unusual facial features, lim …
Audiological findings, genotype and clinical severity score in Cornelia de Lange syndrome.
Marchisio P, Selicorni A, Bianchini S, Milani D, Baggi E, Cerutti M, Larizza L, Principi N, Esposito S. Marchisio P, et al. Int J Pediatr Otorhinolaryngol. 2014 Jul;78(7):1045-8. doi: 10.1016/j.ijporl.2014.03.038. Epub 2014 Apr 8. Int J Pediatr Otorhinolaryngol. 2014. PMID: 24774220
OBJECTIVE: Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been reported. ...RESULTS: According to the severity of clinical phenotypes, 12 (27.3%) children were mild, 15 (34.1%) were moderate and 17 (38. …
OBJECTIVE: Cornelia de Lange syndrome (CdLS) is a rare multisystem disorder in which hearing loss (HL) has been …
Functional and Clinical Outcomes of Combined Simultaneous Bilateral Anterior Distal Femoral Plate Hemiepiphysiodesis and Hamstrings Release in Management of Knee Flexion Contractures in Children With Neuromuscular Disorders.
Zaghloul A, Manoukian D, Barrett MC, Geronta I, Maizen C. Zaghloul A, et al. J Pediatr Orthop. 2021 Oct 1;41(9):559-565. doi: 10.1097/BPO.0000000000001942. J Pediatr Orthop. 2021. PMID: 34387232
There were 15 males and 4 females. Diagnoses included cerebral palsy (n=16), Cornelia de Lange syndrome (n=1), hereditary spastic paraplegia type 56 (n=1) and fructose-1,6 bisphosphonate aldose B deficiency (n=1). ...Our findings demonstrate imp …
There were 15 males and 4 females. Diagnoses included cerebral palsy (n=16), Cornelia de Lange syndrome (n=1), h …
Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.
Serra G, Memo L, Coscia A, Giuffré M, Iuculano A, Lanna M, Valentini D, Contardi A, Filippeschi S, Frusca T, Mosca F, Ramenghi LA, Romano C, Scopinaro A, Villani A, Zampino G, Corsello G; their respective Scientific Societies and Parents’ Associations. Serra G, et al. Ital J Pediatr. 2021 Apr 19;47(1):94. doi: 10.1186/s13052-021-01044-1. Ital J Pediatr. 2021. PMID: 33874990 Free PMC article.
To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, representatives of four Parents' Associations were also recruited: Italian Association of Down People, Cornelia de Lange …
To obtain a deeper and global vision of the communication process, and to reach a better clinical management of patients and their families, …
Temporal changes in the epidemiology, management, and outcome from acute respiratory distress syndrome in European intensive care units: a comparison of two large cohorts.
Sakr Y, François B, Solé-Violan J, Kotfis K, Jaschinski U, Estella A, Leone M, Jakob SM, Wittebole X, Fontes LE, de Melo Gurgel M, Midega T, Vincent JL, Ranieri VM; SOAP and ICON Investigators. Sakr Y, et al. Crit Care. 2021 Feb 25;25(1):87. doi: 10.1186/s13054-020-03455-8. Crit Care. 2021. PMID: 33632247 Free PMC article.
The diagnosis of ARDS was established at a median of 3 (IQ: 1-7) days after admission in SOAP and 2 (1-6) days in ICON. Within 24 h of diagnosis, ARDS was mild in 244 (29.7%), moderate in 388 (47.3%), and severe in 189 (23.0%) patients. ...
The diagnosis of ARDS was established at a median of 3 (IQ: 1-7) days after admission in SOAP and 2 (1-6) days in ICON. Within 24 h o …
Successful treatment of neonatal respiratory failure caused by a novel surfactant protein C p.Cys121Gly mutation with hydroxychloroquine.
Hepping N, Griese M, Lohse P, Garbe W, Lange L. Hepping N, et al. J Perinatol. 2013 Jun;33(6):492-4. doi: 10.1038/jp.2012.131. J Perinatol. 2013. PMID: 23719253
The patient was diagnosed as heterozygous for a p.Cys121Gly/C121G substitution encoded by exon 4, which could not be detected in both parents. Experimental therapy with hydroxychloroquine resulted in a significant clinical improvement within 2 weeks time. Mechanical ventil …
The patient was diagnosed as heterozygous for a p.Cys121Gly/C121G substitution encoded by exon 4, which could not be detected in both parent …
Elevation of choline and glycine in red blood cells of psychiatric patients due to lithium treatment.
Shea PA, Small JG, Hendrie HC. Shea PA, et al. Biol Psychiatry. 1981 Sep;16(9):825-30. Biol Psychiatry. 1981. PMID: 7295842
The patient groups included affective, schizophrenic, schizo-affective disorders, as well as patients with organic brain syndrome and Cornelia de Lange syndrome. In general, all patients on therapeutic dosages of Li+ had significantly hig …
The patient groups included affective, schizophrenic, schizo-affective disorders, as well as patients with organic brain syndrome and …