Orphan or Rare Diseases
Congenital syphilis as the cause of multiple bone fractures in a young infant case report
BMC Pediatr. 2022 Dec 21;22(1):728. doi: 10.1186/s12887-022-03789-y.
NO ABSTRACT
PMID:36539748 | PMC:PMC9768959 | DOI:10.1186/s12887-022-03789-y
Rare disease education in Europe and beyond: time to act
Orphanet J Rare Dis. 2022 Dec 19;17(1):441. doi: 10.1186/s13023-022-02527-y.
NO ABSTRACT
PMID:36536417 | DOI:10.1186/s13023-022-02527-y
Cholangiocarcinome: successes and pitfalls of personalized medicine for a rare disease
Bull Cancer. 2022 Nov;109(11S):11S1-11S2. doi: 10.1016/S0007-4551(22)00462-3.
NO ABSTRACT
PMID:36535757 | DOI:10.1016/S0007-4551(22)00462-3
The transition of children with rare diseases from pediatric to adult care
Orv Hetil. 2022 Dec 18;163(51):2021-2026. doi: 10.1556/650.2022.32660. Print 2022 Dec 18.
NO ABSTRACT
PMID:36528825 | DOI:10.1556/650.2022.32660
Patients' work and fluid trajectories: Access to medicines for oncological and rare diseases in Russia
Soc Sci Med. 2023 Jan;317:115613. doi: 10.1016/j.socscimed.2022.115613. Epub 2022 Dec 10.
ABSTRACT
Health policy studies usually conceptualise access to medicines as a result of the institutional configuration of policies, legislation, and pharmaceutical markets. This study adopts a different approach that stems from the sociology of health and Science and Technology Studies (STS). Based on an ethnographically inspired qualitative research of access practices of patients with oncological and rare diseases in Russia, we argue that access to medicines is a fluid and unstable trajectory constructed by the everyday practices of patients. Instead of seeing patients as passive recipients of institutionally arranged access, we focus on their practices of building access and identify four types of work they do to steer their access trajectories in the desired direction. These types of work include persisting work, complying work, adjusting work, and knowing work. In many studies of access, these types of work remain invisible, and thus the efforts and skills that patients need to make access possible remain unnoticed, undervalued, and unaccounted for.
PMID:36527895 | DOI:10.1016/j.socscimed.2022.115613
NGLY1 deficiency: estimated incidence, clinical features, and genotypic spectrum from the NGLY1 Registry
Orphanet J Rare Dis. 2022 Dec 17;17(1):440. doi: 10.1186/s13023-022-02592-3.
NO ABSTRACT
PMID:36528660 | PMC:PMC9759919 | DOI:10.1186/s13023-022-02592-3
Orphan rare diseases - The unified airways and its importance for the otorhinolaryngologist
Braz J Otorhinolaryngol. 2022 Nov-Dec;88 Suppl 5:S1-S3. doi: 10.1016/j.bjorl.2022.12.003.
NO ABSTRACT
PMID:36528358 | DOI:10.1016/j.bjorl.2022.12.003
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Am J Hum Genet. 2022 Dec 15:S0002-9297(22)00502-X. doi: 10.1016/j.ajhg.2022.11.011. Online ahead of print.
NO ABSTRACT
PMID:36528028 | DOI:10.1016/j.ajhg.2022.11.011
Low grade serous ovarian cancer - A rare disease with increasing therapeutic options
Cancer Treat Rev. 2023 Jan;112:102497. doi: 10.1016/j.ctrv.2022.102497. Epub 2022 Dec 10.
ABSTRACT
High-grade serous ovarian cancers (HGSOCs) most commonly arise from the fimbrial end of the fallopian tube and harbor TP53 gene mutations. In contrast, low-grade serous ovarian cancers (LGSOCs) appear to have different pathological, epidemiological, and clinical features and should be seen as a distinct serous epithelial ovarian cancer subtype. Our current understanding of LGSOC is limited, and treatment has generally been derived from the more common HGSOCs due to a lack of separate trial data. LGSOCs are characterized by slow tumor growth and are assumed to develop from serous borderline ovarian tumors as precursors. These cancers are often estrogen-receptor positive and show an activated mitogen-activated protein kinase pathway together with KRAS and BRAF mutations and, rarely, TP53 mutations. These characteristics are now commonly used to guide therapeutical decision making and, consequently, a substantial part of treatment consists of maintenance with endocrine treatment, thus balancing disease stabilization and mild toxicity. Additionally, new trials are ongoing that examine the role of targeted therapies such as MEK inhibitors in combination with endocrine treatments. The purpose of this work is to summarize current knowledge and present ongoing trial efforts for LGSOCs.
PMID:36525716 | DOI:10.1016/j.ctrv.2022.102497
Identification of differentially methylated regions in rare diseases from a single-patient perspective
Clin Epigenetics. 2022 Dec 16;14(1):174. doi: 10.1186/s13148-022-01403-7.
NO ABSTRACT
PMID:36527161 | PMC:PMC9758859 | DOI:10.1186/s13148-022-01403-7
Brother of Cure Rare Disease CEO Dies in Trial of Duchenne Muscular Dystrophy Therapy
Hum Gene Ther. 2022 Dec;33(23-24):1224-1227. doi: 10.1089/hum.2022.29228.bfs.
NO ABSTRACT
PMID:36525519 | DOI:10.1089/hum.2022.29228.bfs
Needs of informal caregivers of people with a rare disease: a rapid review of the literature
BMJ Open. 2022 Dec 12;12(12):e063263. doi: 10.1136/bmjopen-2022-063263.
NO ABSTRACT
PMID:36523233 | PMC:PMC9748923 | DOI:10.1136/bmjopen-2022-063263
Blended Phenotype of Prader-Willi Syndrome and HSP-<em>SPG11</em> Caused by Maternal Uniparental Isodisomy
Neurol Genet. 2022 Nov 23;8(6):e200041. doi: 10.1212/NXG.0000000000200041. eCollection 2022 Dec.
NO ABSTRACT
PMID:36524102 | PMC:PMC9747140 | DOI:10.1212/NXG.0000000000200041
Sequencing projects will screen 200,000 newborns for disease
Science. 2022 Dec 16;378(6625):1159. doi: 10.1126/science.adg2858. Epub 2022 Dec 15.
ABSTRACT
U.K. and New York City efforts face cost and ethical issues.
PMID:36520905 | DOI:10.1126/science.adg2858
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