ALLMedicine™ Albinism Center
Research & Reviews 535 results
https://clinicaltrials.gov/ct2/show/NCT00001456
Feb 3rd, 2023 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...
https://clinicaltrials.gov/ct2/show/NCT00005917
Jan 25th, 2023 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...
https://clinicaltrials.gov/ct2/show/NCT05696912
Jan 25th, 2023 - The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actuall...
https://clinicaltrials.gov/ct2/show/NCT01432847
Jan 25th, 2023 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...
https://doi.org/10.1097/PRA.0000000000000685
Journal of Psychiatric Practice; Arcadepani FB, Gadelha A et. al.
Jan 18th, 2023 - Copy number variations, which manifest primarily as deletions and duplications, contribute significantly to the genetic risk of schizophrenia. Specific syndromes associated with copy number variations, exemplified by the 22q11 deletion syndrome, c...
Clinicaltrials.gov 19 results
https://clinicaltrials.gov/ct2/show/NCT00001456
Feb 3rd, 2023 - Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disease consisting of oculocutaneous albinism, a platelet storage pool defect and, in some patients, lysosomal accumulation of ceroid lipofuscin. Other manifestations include pulmonary ...
https://clinicaltrials.gov/ct2/show/NCT01432847
Jan 25th, 2023 - This study will establish a repository of biospecimens to generate induced pluripotent stem (iPS) cells, which will be used to determine molecular mechanisms for potentially blinding eye diseases including but not limited to: Best Vitelliform Dyst...
https://clinicaltrials.gov/ct2/show/NCT00005917
Jan 25th, 2023 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous albinism, a bleeding diathesis, recurrent infection due to abnormal neutrophil and natural killer cell function, and often ...
https://clinicaltrials.gov/ct2/show/NCT05696912
Jan 25th, 2023 - The main objective is the improvement of the diagnosis of rare genetic diseases. The investigator lab is expert for diagnosis of some rare diseases such as neurodevelopmental disorder, albinism, cystic fibrosis and congenital heart defect. Actuall...
https://clinicaltrials.gov/ct2/show/NCT04495218
Dec 8th, 2022 - Scientific context : Albinism is clinically characterised by cutaneous hypopigmentation and ophthalmologic features. These features common to all forms of albinism are foveal hypoplasia, misrouting of the optic nerves at the chiasm, retinal hypopi...
News 19 results
https://www.reuters.com/article/malawi-tech-biometrics/corrected-feature-as-malawi-issues-ids-for-children-privacy-concerns-rise-idUSL8N32P0CF
Dec 30th, 2022 - (Corrects pronoun to ‘she’ in paragraph 14) Malawi pushes to register 8.4 million under-16s IDs essential for education and healthcare access Lack of data protection law raises privacy fears By Charles Pensulo MWANZA, Malawi, Dec 27 (Thomson Reute...
https://www.medscape.com/viewarticle/972135
Apr 14th, 2022 - Newly published insights into the causes of foveal hypoplasia may allow clinicians to make quicker and more accurate diagnoses of the underlying conditions, in some cases preventing complications. Using genetic tests and optical coherence tomograp...
https://www.onclive.com/view/updates-and-advances-in-basal-cell-carcinoma
Dec 18th, 2020 - Although basal cell carcinoma (BCC) generally has a good prognosis, improving tolerance to targeted Hedgehog (HH) inhibitors and optimizing second-line treatment with immune checkpoint inhibitors are important for the small subset of patients who ...
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists?channel=27980
Kari Oakes
Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.
https://www.mdedge.com/dermatology/article/214220/pigmentation-disorders/albinism-awareness-goes-global-dermatologists
Kari Oakes
Dec 12th, 2019 - A dermatologist-led nonprofit organization has entered into a partnership with the United Nations to achieve global progress towards greater inclusivity for people with albinism. Courtesy NYDG Foundation Ms.