Orphan or Rare Diseases
Towards FAIRification of sensitive and fragmented rare disease patient data: challenges and solutions in European reference network registries
Orphanet J Rare Dis. 2022 Dec 14;17(1):436. doi: 10.1186/s13023-022-02558-5.
NO ABSTRACT
PMID:36517834 | DOI:10.1186/s13023-022-02558-5
Quality assessment and refinement of chromatin accessibility data using a sequence-based predictive model
Proc Natl Acad Sci U S A. 2022 Dec 20;119(51):e2212810119. doi: 10.1073/pnas.2212810119. Epub 2022 Dec 12.
NO ABSTRACT
PMID:36508674 | DOI:10.1073/pnas.2212810119
Long-Term Characteristics of Human-Derived Biliary Organoids under a Single Continuous Culture Condition
Cells. 2022 Nov 27;11(23):3797. doi: 10.3390/cells11233797.
NO ABSTRACT
PMID:36497057 | DOI:10.3390/cells11233797
Can a New Comprehensive Treatment Approach Bring Dawn to Patients with Rare Disease
Indian J Pediatr. 2023 Feb;90(2):201. doi: 10.1007/s12098-022-04423-6. Epub 2022 Dec 10.
NO ABSTRACT
PMID:36494514 | DOI:10.1007/s12098-022-04423-6
Exploring alternative financing models and early access schemes for orphan drugs: a Belgian case study
Orphanet J Rare Dis. 2022 Dec 9;17(1):429. doi: 10.1186/s13023-022-02571-8.
NO ABSTRACT
PMID:36494733 | PMC:PMC9733299 | DOI:10.1186/s13023-022-02571-8
Carer burden in rare inherited diseases: a literature review and conceptual model
Orphanet J Rare Dis. 2022 Dec 9;17(1):428. doi: 10.1186/s13023-022-02561-w.
NO ABSTRACT
PMID:36494728 | PMC:PMC9733280 | DOI:10.1186/s13023-022-02561-w
Case report: Moyamoya disease, the culprit in an adult female presenting with left sided numbness
Medicine (Baltimore). 2022 Dec 2;101(48):e32160. doi: 10.1097/MD.0000000000032160.
NO ABSTRACT
PMID:36482624 | DOI:10.1097/MD.0000000000032160
Efficacy and safety clinical trial with efavirenz in patients diagnosed with adult Niemann-pick type C with cognitive impairment
Medicine (Baltimore). 2022 Dec 2;101(48):e31471. doi: 10.1097/MD.0000000000031471.
NO ABSTRACT
PMID:36482560 | DOI:10.1097/MD.0000000000031471
16p13.11 microdeletion/microduplication in fetuses: investigation of associated ultrasound phenotypes, genetic anomalies, and pregnancy outcome follow-up
BMC Pregnancy Childbirth. 2022 Dec 7;22(1):913. doi: 10.1186/s12884-022-05267-w.
NO ABSTRACT
PMID:36476185 | DOI:10.1186/s12884-022-05267-w
Eradication of early MRSA infection in cystic fibrosis: a novel study design for the STAR-ter trial
ERJ Open Res. 2022 Dec 5;8(4):00190-2022. doi: 10.1183/23120541.00190-2022. eCollection 2022 Oct.
NO ABSTRACT
PMID:36478917 | PMC:PMC9720546 | DOI:10.1183/23120541.00190-2022
Corneal neurotization in the management of neurotrophic keratopathy: A review of the literature
J Fr Ophtalmol. 2023 Jan;46(1):83-96. doi: 10.1016/j.jfo.2022.09.007. Epub 2022 Dec 5.
ABSTRACT
Neurotrophic keratopathy (NK) is a rare degenerative disease in which damage to the corneal nerves leads to corneal hypoesthesia or anesthesia. Neurotrophic corneal ulcers are notoriously difficult to treat and can lead to blindness. Corneal neurotization (CN) is a recent surgical technique aimed at restoring corneal sensation and may offer a definitive treatment in the wake of NK. Herein, we review the surgical techniques utilized in direct and indirect CN. Technical considerations, outcomes, current limitations and future perspectives are also discussed. This article highlights the key points of this promising procedure and biological aspects that will help provide the best treatment options for patients with severe NK.
PMID:36473789 | DOI:10.1016/j.jfo.2022.09.007
Cannabidiol reveals a disruptive strategy for 21st century epilepsy drug discovery
Exp Neurol. 2022 Nov 26;360:114288. doi: 10.1016/j.expneurol.2022.114288. Online ahead of print.
NO ABSTRACT
PMID:36471511 | DOI:10.1016/j.expneurol.2022.114288
Federated learning enables big data for rare cancer boundary detection
Nat Commun. 2022 Dec 5;13(1):7346. doi: 10.1038/s41467-022-33407-5.
NO ABSTRACT
PMID:36470898 | DOI:10.1038/s41467-022-33407-5
A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
Eur J Dermatol. 2022 Sep 1;32(5):632-636. doi: 10.1684/ejd.2022.4318.
NO ABSTRACT
PMID:36468719 | DOI:10.1684/ejd.2022.4318
Palpebral marginoplasty in the management of distichiasis: About 104 eyes
J Fr Ophtalmol. 2023 Jan;46(1):65-71. doi: 10.1016/j.jfo.2022.05.024. Epub 2022 Nov 30.
ABSTRACT
Distichiasis is an anomaly of the of the eyelid margin characterized by the presence of a second row of eyelashes arising from the posterior lamella. It is a rare condition whose severity is related to corneal complications. There are two forms: congenital and acquired, the latter of which is the most frequent in our population, resulting mainly from chronic inflammation. There are several treatment modalities, the choice of which is up to the practitioner depending on the means at his or her disposal and the risk-benefit ratio. We report a series of 104 eyes (90 patients) undergoing surgery for distichiasis using the marginoplasty technique with labial mucosal autograft, collected between January 2000 and September 2021. The main indication was any distichiasis with more than seven lashes per eyelid. The mean age of the patients was 65.5 years. With a mean follow-up of over 24 months, a reduction in functional signs was noted in over 95% of cases. The success rate after marginoplasty with labial mucosal autograft alone was 82.7%. The recurrence rate was 17.3%, which patients underwent additional treatment by argon laser photoablation with very good final results (96% final success rate). Marginoplasty with labial mucosal autograft represents a technique of choice in distichiasis threatening the cornea, particularly in cases of distichiasis with a significant number of eyelashes to be treated.
PMID:36462946 | DOI:10.1016/j.jfo.2022.05.024
Natural History and Real-World Data in Rare Diseases: Applications, Limitations, and Future Perspectives
J Clin Pharmacol. 2022 Dec;62 Suppl 2:S38-S55. doi: 10.1002/jcph.2134.
NO ABSTRACT
PMID:36461748 | DOI:10.1002/jcph.2134
Overview of Clinical Pharmacology Packages of New Drug Applications Approved for the Treatment of Rare Diseases
J Clin Pharmacol. 2022 Dec;62 Suppl 2:S72-S78. doi: 10.1002/jcph.2167.
NO ABSTRACT
PMID:36461747 | DOI:10.1002/jcph.2167
Immunogenicity Considerations for Therapeutic Modalities Used in Rare Diseases
J Clin Pharmacol. 2022 Dec;62 Suppl 2:S110-S118. doi: 10.1002/jcph.2166.
NO ABSTRACT
PMID:36461746 | DOI:10.1002/jcph.2166
Until My Son Calls Me Dad: Quest to Find a Treatment for Ultra-Rare Disease
J Clin Pharmacol. 2022 Dec;62 Suppl 2:S12-S14. doi: 10.1002/jcph.2154.
NO ABSTRACT
PMID:36461745 | DOI:10.1002/jcph.2154