| 21. |
- Edsjö, Anders, et al.
(författare)
-
Building a precision medicine infrastructure at a national level : The Swedish experience
- 2023
-
Ingår i: Cambridge Prisms: Precision Medicine. - : Cambridge University Press. - 2752-6143. ; 1
-
Forskningsöversikt (refereegranskat)abstract
- Precision medicine has the potential to transform healthcare by moving from one-size-fits-all to personalised treatment and care. This transition has been greatly facilitated through new high-throughput sequencing technologies that can provide the unique molecular profile of each individual patient, along with the rapid development of targeted therapies directed to the Achilles heels of each disease. To implement precision medicine approaches in healthcare, many countries have adopted national strategies and initiated genomic/precision medicine initiatives to provide equal access to all citizens. In other countries, such as Sweden, this has proven more difficult due to regionally organised healthcare. Using a bottom-up approach, key stakeholders from academia, healthcare, industry and patient organisations joined forces and formed Genomic Medicine Sweden (GMS), a national infrastructure for the implementation of precision medicine across the country. To achieve this, Genomic Medicine Centres have been established to provide regionally distributed genomic services, and a national informatics infrastructure has been built to allow secure data handling and sharing. GMS has a broad scope focusing on rare diseases, cancer, pharmacogenomics, infectious diseases and complex diseases, while also providing expertise in informatics, ethical and legal issues, health economy, industry collaboration and education. In this review, we summarise our experience in building a national infrastructure for precision medicine. We also provide key examples how precision medicine already has been successfully implemented within our focus areas. Finally, we bring up challenges and opportunities associated with precision medicine implementation, the importance of international collaboration, as well as the future perspective in the field of precision medicine.
|
|
| 22. |
- Ellaithi, Mona, et al.
(författare)
-
A case of Cornelia de Lange syndrome from Sudan
- 2007
-
Ingår i: BMC Pediatrics. - : Springer Science and Business Media LLC. - 1471-2431. ; 7
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Brachmann de Lange syndrome (BDLS) is a multiple congenital anomaly syndrome characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, psychomotor delay, behavioral problems, and malformations of the upper extremities. CASE PRESENTATION: Here we present for the first time a case of BDLS from Sudan, a 7-month-old female infant, who was referred as a case of malnutrition. The patient was from a Sudanese western tribe. Clinical investigation showed that the child was a classical case of BDLS, but with some additional clinical findings not previously reported including crowded ribs and tied tongue. CONCLUSION: Reporting BDLS cases of different ethnic backgrounds could add nuances to the phenotypic description of the syndrome and be helpful in diagnosis.
|
|
| 23. |
- Ellaithi, M, et al.
(författare)
-
A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia
- 2006
-
Ingår i: BMC Pediatrics. - : Springer Science and Business Media LLC. - 1471-2431. ; 6:11
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: SRY (sex-determining region, Y) is the gene responsible of gonadal differentiation in the male and it is essential for the regular development of male genitalia. Translocations involving the human sex chromosomes are rarely reported, however here we are reporting a very rare translocation of SRY gene to the q -arm of a deleted X chromosome. This finding was confirmed by cytogenetic, fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR). CASE PRESENTATION: A 7-month infant was clinically diagnosed as an intersex case, with a phallus, labia majora and minora, a blind vagina and a male urethra. Neither uterus nor testes was detected by Ultrasonography. G-banding of his chromosomes showed 46,X,del(X)(p11) and fluorescent in situ hybridization (FISH) analysis showed a very small piece from the Y chromosome translocated to the q-arm of the del(X). Polymerase chain reaction (PCR) analysis revealed the presence of material from the sex-determining region Y (SRY) gene. CONCLUSION: It is suggested that the phenotype of the patient was caused by activation of the deleted X chromosome with SRY translocation, which is responsible for gonadal differentiation.
|
|
| 24. |
- Ellaithi, M, et al.
(författare)
-
Female genital mutilation of a karyotypic male presenting as a female with delayed puberty
- 2006
-
Ingår i: BMC Women's Health. - : Springer Science and Business Media LLC. - 1472-6874. ; 6:6
-
Tidskriftsartikel (refereegranskat)abstract
- BACKGROUND: Female genital mutilation (FGM) is commonly practiced mainly in a belt reaching from East to West Africa north of the equator. The practice is known across socio-economic classes and among different ethnic, religious, and cultural groups. Few studies have been appropriately designed to measure the health effects of FGM. However, the outcome of FGM on intersex individuals has never been discussed before. CASE PRESENTATION: The patient first presented as a female with delayed puberty. Hormonal analysis revealed a normal serum prolactin level of 215 Micro/L, a low FSH of 0.5 Micro/L, and a low LH of 1.1 Micro/L. Type IV FGM (Pharaonic circumcision) had been performed during childhood. Chromosomal analysis showed a 46, XY karyotype and ultrasonography verified a soft tissue structure in the position of the prostate. CONCLUSION: FGM pose a threat to the diagnosis and management of children with abnormal genital development in the Sudan and similar societies.
|
|
| 25. |
- Forslund, Ola, et al.
(författare)
-
Regarding human cytomegalovirus in neuroblastoma.
- 2014
-
Ingår i: Cancer Medicine. - : Wiley. - 2045-7634. ; 3:4, s. 1038-1040
-
Tidskriftsartikel (övrigt vetenskapligt/konstnärligt)abstract
- Wolmer-Solberg et al., reported that six human neuroblastoma cell lines and the vast majority of clinical neuroblastoma samples contained HCMV DNA and expressed HCMV proteins. We could not replicate the data and therefore remain skeptical towards the prevalence of HCMV DNA in neuroblastomas.
|
|
| 26. |
|
|
| 27. |
|
|
| 28. |
|
|
| 29. |
- Gisselsson Nord, David
(författare)
-
Aneuploidy in cancer: Sudden or sequential?
- 2011
-
Ingår i: Cell Cycle. - : Informa UK Limited. - 1551-4005 .- 1538-4101. ; 10:3, s. 359-361
-
Tidskriftsartikel (refereegranskat)abstract
- Comment on: Gisselsson D, et al. Proc Natl Acad Sci USA 2010; 107:20489-93.
|
|
| 30. |
|
|
