Orphan or Rare Diseases
Parents' decision-making regarding whether to receive adult-onset only genetic findings for their children: Findings from the BabySeq Project
Genet Med. 2022 Dec 19:100002. doi: 10.1016/j.gim.2022.100002. Online ahead of print.
NO ABSTRACT
PMID:36549595 | DOI:10.1016/j.gim.2022.100002
Communication with parents and young adult patients affected by complex vascular malformations
Pediatr Blood Cancer. 2022 Dec 22:e30158. doi: 10.1002/pbc.30158. Online ahead of print.
NO ABSTRACT
PMID:36545911 | DOI:10.1002/pbc.30158
GM1-gangliosidosis: The caregivers' assessments of symptom impact and most important symptoms to treat
Am J Med Genet A. 2023 Feb;191(2):408-423. doi: 10.1002/ajmg.a.63038. Epub 2022 Dec 21.
ABSTRACT
GM1-gangliosidosis (GM1) is a rare neurodegenerative disorder leading to early mortality and causing progressive decline of physical skills and cerebral functioning. No approved treatment for GM1 exists. In this study-the first to explore priorities of parents of subjects with pediatric onset forms of GM1-we address a crucial gap by characterizing symptoms most critical to caregivers of children with GM1 to treat. Our two-part, mixed-methods approach began with focus groups, followed by interviews with a distinct set of parents. Interviews included a prioritization activity that used best-worst scaling. Quantitative data were analyzed descriptively. Qualitative data were analyzed using thematic analysis and rapid analysis process. Parents prioritized the symptoms they believed would increase their child's lifespan and improve their perceived quality of life (QoL); these symptoms focused on communicating wants/needs, preventing pain/discomfort, getting around and moving one's body, and enhancing eating/feeding. Although lifespan was highly valued, almost all parents would not desire a longer lifespan without acceptable child QoL. Parents indicated high caregiver burden and progressive reduction in QoL for children with GM1. This novel study of caregiver priorities identified important symptoms for endpoints' selection in patient-focused drug development in the context of high disease impact and unmet treatment needs.
PMID:36541412 | DOI:10.1002/ajmg.a.63038
Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)
Sci Rep. 2022 Dec 21;12(1):22075. doi: 10.1038/s41598-022-25545-z.
NO ABSTRACT
PMID:36543827 | PMC:PMC9772173 | DOI:10.1038/s41598-022-25545-z
Perspectives of Rare Disease Social Media Group Participants on Engaging With Genetic Counselors: Mixed Methods Study
J Med Internet Res. 2022 Dec 21;24(12):e42084. doi: 10.2196/42084.
NO ABSTRACT
PMID:36542454 | DOI:10.2196/42084
The characteristics of restrictive listings of medications: the position of orphan medical preparations
Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med. 2022 Dec 15;30(6):1328-1330. doi: 10.32687/0869-866X-2022-30-6-1328-1330.
NO ABSTRACT
PMID:36541317 | DOI:10.32687/0869-866X-2022-30-6-1328-1330
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