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Presenting phenotype in 100 children with the 22q11 deletion syndrome.
Oskarsdóttir S, Persson C, Eriksson BO, Fasth A. Oskarsdóttir S, et al. Among authors: fasth a. Eur J Pediatr. 2005 Mar;164(3):146-53. doi: 10.1007/s00431-004-1577-8. Epub 2004 Nov 23. Eur J Pediatr. 2005. PMID: 15565286
Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a
Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a
Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden.
Oskarsdóttir S, Vujic M, Fasth A. Oskarsdóttir S, et al. Among authors: fasth a. Arch Dis Child. 2004 Feb;89(2):148-51. doi: 10.1136/adc.2003.026880. Arch Dis Child. 2004. PMID: 14736631 Free PMC article.
BACKGROUND: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a common deletion of chromosome 22q11.2. These syndromes are usually referred to as the 22q11 deletion syndrome (22q11DS), which has a wi …
BACKGROUND: Almost all cases of DiGeorge syndrome, velo-cardio-facial syndrome and conotruncal anomaly face syndrome result from a co …
Facial features in children with the 22q11 deletion syndrome.
Oskarsdóttir S, Holmberg E, Fasth A, Strömland K. Oskarsdóttir S, et al. Among authors: fasth a. Acta Paediatr. 2008 Aug;97(8):1113-7. doi: 10.1111/j.1651-2227.2008.00858.x. Epub 2008 May 14. Acta Paediatr. 2008. PMID: 18482168
CONCLUSIONS: The 22q11 deletion syndrome is a differential diagnosis in children with a variety of symptoms and signs including congenital malformations, developmental delay and speech abnormalities. ...A systematic evaluation of facial features might help in …
CONCLUSIONS: The 22q11 deletion syndrome is a differential diagnosis in children with a variety of symptoms and signs includin …
Preterm infants with low immunoglobulin G levels have increased risk of neonatal sepsis but do not benefit from prophylactic immunoglobulin G.
Sandberg K, Fasth A, Berger A, Eibl M, Isacson K, Lischka A, Pollak A, Tessin I, Thiringer K. Sandberg K, et al. Among authors: fasth a. J Pediatr. 2000 Nov;137(5):623-8. doi: 10.1067/mpd.2000.109791. J Pediatr. 2000. PMID: 11060526 Clinical Trial.
Infants with umbilical cord blood IgG levels >4 g/L (n = 238) served as a separate comparison group. Neonatal infections according to European Society of Pediatric Infectious Disease criteria were monitored until 28 days of life. ...We speculate that a spontaneou …
Infants with umbilical cord blood IgG levels >4 g/L (n = 238) served as a separate comparison group. Neonatal infections according …
Epidemiology of juvenile chronic arthritis in southwestern Sweden: a 5-year prospective population study.
Gäre BA, Fasth A. Gäre BA, et al. Among authors: fasth a. Pediatrics. 1992 Dec;90(6):950-8. Pediatrics. 1992. PMID: 1437440
To investigate incidence and prevalence of JCA in a total population, this prospective survey was performed in southwestern Sweden between 1984 and 1988. ...In December 1988, 334 cases of JCA were recorded, giving a prevalence of 86.3 per 100,000. When patients in r …
To investigate incidence and prevalence of JCA in a total population, this prospective survey was performed in southwestern Sweden be …
[CATCH22 or 22q11 deletion syndrome. An underdiagnosed and misunderstood disease category with a variable clinical picture].
Oskarsdóttir S, Fasth A, Belfrage M, Viggedal G, Persson C, Eriksson BO. Oskarsdóttir S, et al. Among authors: fasth a. Lakartidningen. 1999 Nov 3;96(44):4789-93. Lakartidningen. 1999. PMID: 10584540 Swedish.
Patients with CATCH 22 or 22q11 deletion syndrome constitute a fast growing category in Sweden as it is still underdiagnosed. In a series of 54 patients the predominant features were found to be speech and language difficulties, cardiac malformations, susceptibility …
Patients with CATCH 22 or 22q11 deletion syndrome constitute a fast growing category in Sweden as it is still underdiagnosed. In a
Safety and efficacy of subcutaneous human immunoglobulin in children with primary immunodeficiency.
Fasth A, Nyström J. Fasth A, et al. Acta Paediatr. 2007 Oct;96(10):1474-8. doi: 10.1111/j.1651-2227.2007.00485.x. Epub 2007 Sep 10. Acta Paediatr. 2007. PMID: 17850391
The primary objective of this prospective, open-label study was to evaluate the safety and tolerability of home treatment with a 16%, ready-to-use, human normal immunoglobulin solution for subcutaneous administration (SCIg 16%, Subcuvia, Baxter Medical AB, Kista, Sweden) i …
The primary objective of this prospective, open-label study was to evaluate the safety and tolerability of home treatment with a 16%, …
Bone health in children and adolescents with juvenile idiopathic arthritis and the influence of short-term physical exercise.
Sandstedt E, Fasth A, Fors H, Beckung E. Sandstedt E, et al. Among authors: fasth a. Pediatr Phys Ther. 2012 Summer;24(2):155-61; discussion 162. doi: 10.1097/PEP.0b013e31824cce6e. Pediatr Phys Ther. 2012. PMID: 22466383 Clinical Trial.
PURPOSE: To study bone mineral density (BMD) in 54 children and adolescents with juvenile idiopathic arthritis before and after a short-term exercise program. METHODS: Fifty-four children, 41 girls and 13 boys, median age 13.9 years, participated in a 12-week exerci …
PURPOSE: To study bone mineral density (BMD) in 54 children and adolescents with juvenile idiopathic arthritis before and after a sho …
Clinical spectrum of X-linked hyper-IgM syndrome.
Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD. Levy J, et al. Among authors: fasth a. J Pediatr. 1997 Jul;131(1 Pt 1):47-54. doi: 10.1016/s0022-3476(97)70123-9. J Pediatr. 1997. PMID: 9255191
We report the clinical and immunologic features and outcome in 56 patients with X-linked hyper-IgM syndrome, a disorder caused by mutations in the CD40 ligand gene. ...X-linked hyper-IgM syndrome, once considered a clinical variant of hypogammaglobulinemia, is a
We report the clinical and immunologic features and outcome in 56 patients with X-linked hyper-IgM syndrome, a disorder caused by mut …
Fifteen-minute consultation: Recognising primary immune deficiencies in children.
Wekell P, Hertting O, Holmgren D, Fasth A. Wekell P, et al. Among authors: fasth a. Arch Dis Child Educ Pract Ed. 2019 Oct;104(5):235-243. doi: 10.1136/archdischild-2018-315484. Epub 2019 Feb 7. Arch Dis Child Educ Pract Ed. 2019. PMID: 30733240
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