Indian J Tuberc. 2022 Oct;69(4):421-426. doi: 10.1016/j.ijtb.2021.08.028. Epub 2021 Aug 27.

NO ABSTRACT

PMID:36460370 | DOI:10.1016/j.ijtb.2021.08.028

BMJ Case Rep. 2022 Dec 2;15(12):e250695. doi: 10.1136/bcr-2022-250695.

NO ABSTRACT

PMID:36460311 | DOI:10.1136/bcr-2022-250695

Anticancer Res. 2022 Dec;42(12):5795-5801. doi: 10.21873/anticanres.16086.

NO ABSTRACT

PMID:36456130 | DOI:10.21873/anticanres.16086

PLoS One. 2022 Dec 1;17(12):e0278610. doi: 10.1371/journal.pone.0278610. eCollection 2022.

NO ABSTRACT

PMID:36454973 | DOI:10.1371/journal.pone.0278610

Adv Exp Med Biol. 2023;1396:255-273. doi: 10.1007/978-981-19-5642-3_17.

NO ABSTRACT

PMID:36454472 | DOI:10.1007/978-981-19-5642-3_17

Indian J Ophthalmol. 2022 Dec;70(12):4428-4429. doi: 10.4103/ijo.IJO_2126_22.

NO ABSTRACT

PMID:36453359 | DOI:10.4103/ijo.IJO_2126_22

Indian J Ophthalmol. 2022 Dec;70(12):4426-4428. doi: 10.4103/ijo.IJO_2202_22.

NO ABSTRACT

PMID:36453358 | DOI:10.4103/ijo.IJO_2202_22

Front Immunol. 2022 Nov 14;13:1036136. doi: 10.3389/fimmu.2022.1036136. eCollection 2022.

ABSTRACT

Nephritic factors (NeFs) are autoantibodies promoting the activity of the central enzymes of the complement cascade, an important first line of defense of our innate immune system. NeFs stabilize the complement convertase complexes and prevent their natural and regulator-mediated decay. They are mostly associated with rare complement-mediated kidney disorders, in particular with C3 glomerulopathy and related diseases. Although these autoantibodies were already described more than 50 years ago, measuring NeFs for diagnostic purposes remains difficult, and this also complicates our understanding of their clinical associations. In this review, we address the multifactorial challenges of NeF diagnostics. We describe the diseases NeFs are associated with, the heterogenic mechanisms of action of different NeF types, the different methods available in laboratories used for their detection, and efforts for standardization. Finally, we discuss the importance of proper NeF diagnostics for understanding the clinical impact of these autoantibodies in disease pathophysiology and for considering future complement-directed therapy.

PMID:36451820 | PMC:PMC9702996 | DOI:10.3389/fimmu.2022.1036136

Pan Afr Med J. 2022 Sep 7;43:11. doi: 10.11604/pamj.2022.43.11.35300. eCollection 2022.

NO ABSTRACT

PMID:36451730 | PMC:PMC9674524 | DOI:10.11604/pamj.2022.43.11.35300

Undersea Hyperb Med. 2022 Fourth Quarter;49(4):533-547. doi: 10.22462/07.08.2022.12.

ABSTRACT

Central retinal artery occlusion (CRAO) is a relatively rare emergent condition of the eye resulting in sudden painless vision loss. This vision loss is usually dramatic and permanent, and the prognosis for visual recovery is poor. A wide variety of treatment modalities have been tried over the last 100 years with little to no success, with the exception of hyperbaric oxygen therapy. The optimum number of treatments will vary depending on the severity and duration of the patient's symptoms and the degree of response to treatment. The majority of patients will stabilize within a few days after symptom onset. Utilization review is recommended for patients treated for more than three days after clinical plateau.

PMID:36446298 | DOI:10.22462/07.08.2022.12

Curr Opin Urol. 2023 Jan 1;33(1):50-58. doi: 10.1097/MOU.0000000000001045. Epub 2022 Oct 21.

ABSTRACT

PURPOSE OF REVIEW: Adrenocortical carcinoma (ACC) is a rare, aggressive disease with a paucity of data and great variability between published studies regarding its treatment. This review provides information on current clinical management and oncological and endocrine outcomes.

RECENT FINDINGS: Complete surgical resection is the only potentially curative treatment for adrenocortical carcinoma (ACC). Adjuvant mitotane treatment is recommended in patients with favourable/intermediate prognosis. As part of the endocrine follow-up, steroid hormones and thyroid hormones may be decreased or increased and may need to be substituted or suppressed. Recurrences are common. If the disease-free interval is more than 12 months, surgery is a treatment if complete resection is feasible. In advanced/metastatic ACC patients, the prognosis is poor. Mitotane monotherapy is only appropriate for patients with low tumour burden and indolent disease. Patients with unfavourable prognosis should be treated with aggressive cytotoxic therapy. Patients requiring third-line treatment should be considered for clinical trials. Immunotherapy and targeted therapy are currently being investigated, but have so far yielded only unsatisfactory results.

SUMMARY: There is scarce evidence for the treatment of ACC, which often complicates clinical decision-making. Patients who progress on EDP-M should be treated in clinical trials.

PMID:36444650 | DOI:10.1097/MOU.0000000000001045

Front Public Health. 2022 Nov 10;10:1030828. doi: 10.3389/fpubh.2022.1030828. eCollection 2022.

ABSTRACT

BACKGROUND: A considerable proportion of rare disease patients decide to migrate to access a definitive diagnosis or appropriate care, which could affect their quality of life in a long term.

OBJECTIVE: To compare quality of life (QoL) between migrants and residents and explore the possible mechanism of how migration influence the QoL among rural and urban adults with rare diseases, respectively.

METHODS: A cross-sectional study at national level was conducted in a study sample of 1,150 adult patients in China. Migration was defined as being away from one's original place of residence for at least 12 months. Patients who remained in their place of residence in the past 12 months ("resident") were treated as a comparison group for "migrants". Original area of residence (rural vs. urban) for both residents and migrants was used for comparison. The brief version of the World Health Organization Quality of Life instrument was used to measure QoL. Multiple linear regression analyses were adopted to assess the direct association between migration status and QoL after controlling for the confounders that affect QoL. The indirect associations between migration status and QoL, mediated by potential mediators including number of family members living together, individual income, catastrophic health expenditure, and social support, were estimated using the mediation model.

RESULTS: Among the group of rural participants, migration was directly associated with physical QoL (β = 5.07, 95% CI 2.01-8.13) and environmental QoL (3.95, 1.37-6.53), indirectly associated with physical QoL (0.58, 0.05-1.28) and social QoL (0.50, 0.01-1.16) via individual income, and also indirectly associated with environmental QoL (-0.47, -1.12 to -0.50) via tangible support. On the other hand, neither direct nor indirect associations of migration with four domain scores of QoL were significant among the group of urban participants.

CONCLUSION: Among rural adults with rare diseases, migration was found to have positive direct effect on physical and environmental QoL, positive indirect effect on physical and social QoL through increased individual income, and negative indirect effect on environmental QoL via reduced tangible support. By contrast, neither direct nor indirect associations of migration with QoL were significant among the group of urban participants.

PMID:36438276 | PMC:PMC9686420 | DOI:10.3389/fpubh.2022.1030828

Lancet. 2022 Nov 26;400(10366):1884-1898. doi: 10.1016/S0140-6736(22)01601-4.

ABSTRACT

Although it is a rare disease, the number of available therapeutic options for treating pulmonary arterial hypertension has increased since the late 1990s, with multiple drugs developed that are shown to be effective in phase 3 randomised controlled trials. Despite considerable advancements in pulmonary arterial hypertension treatment, prognosis remains poor. Existing therapies target pulmonary endothelial dysfunction with vasodilation and anti-proliferative effects. Novel therapies that target proliferative vascular remodelling and affect important outcomes are urgently needed. There is need for additional innovations in clinical trial design so that all emerging candidate therapies can be rigorously studied. Pulmonary arterial hypertension trial design has shifted from short-term submaximal exercise capacity as a primary endpoint, to larger clinical event-driven trial outcomes. Event-driven pulmonary arterial hypertension trials could face feasibility and efficiency issues in the future because increasing sample sizes and longer follow-up durations are needed, which would be problematic in such a rare disease. Enrichment strategies, innovative and alternative trial designs, and novel trial endpoints are potential solutions that could improve the efficiency of future pulmonary arterial hypertension trials while maintaining robustness and clinically meaningful evidence.

PMID:36436527 | DOI:10.1016/S0140-6736(22)01601-4

Sci Rep. 2022 Nov 25;12(1):20337. doi: 10.1038/s41598-022-24778-2.

ABSTRACT

Graft versus host disease (GVHD) after liver transplantation (LT) is a rare, fatal disease. This study aimed to evaluate the risk factors of GVHD after LT including the human leukocyte antigen (HLA) donor-recipient relationship after LT. LT recipients, who underwent HLA typing together with donors, were included in the study. The donor against recipient (D → R) one-way mismatch of HLA loci was evaluated. HLA relationships, along with basic characteristics, were analyzed as variable factors of GVHD, graft survival, and patient survival. A total of 994 living donor LT (LDLT) and 393 deceased donor LT (DDLT) patients were included. Nine patients had suffered GVHD, four LDLT with D → R one-way at three loci, one LDLT without D → R one-way at three loci, and four DDLT without D → R one-way at three loci. Four (57.1%) of seven LDLT patients, with D → R one-way mismatch at three loci, developed GVHD. D → R one-way mismatch at three loci was related to high GVHD incidence (HR 787, p < 0.001, multivariate). D → R one-way mismatch at three loci was related to graft failure and patient death (HR 9.90, p = 0.020 and HR 12.8, p < 0.001, respectively, multivariate). Only one GVHD without D → R one-way mismatch at three loci, survived despite receiving multiple modalities including tumor necrosis factor-alpha inhibitors. D → R one-way mismatch at three loci was significantly related to GVHD incidence after LT.

PMID:36434131 | DOI:10.1038/s41598-022-24778-2

Int J Environ Res Public Health. 2022 Nov 17;19(22):15174. doi: 10.3390/ijerph192215174.

ABSTRACT

OBJECTIVE: To identify and map the available evidence on the implementation of public health policies directed at individuals with rare diseases, and to compare the implementation of these health policies between Brazil and other countries.

METHOD: A scoping review guided by the PRISMA-ScR and JBI checklists. The search for articles was conducted in eight electronic databases, MEDLINE/Pubmed, Embase, Cochrane Library, Web of Science, Scopus, CINAHL, PsycINFO, and LILACS, using controlled descriptors, synonyms, and keywords combined with Boolean operators. All steps of this review were independently conducted by two researchers. The selected studies were classified by evidence hierarchy, and a generic quantitative tool was used for the assessment of the studies.

RESULTS: A total of 473 studies were identified, of which 13 which met all the inclusion criteria were selected and analyzed. Of these studies, 61.5% (n = 8) had final scores equal to or greater than 70%, i.e., they were classified by this tool as being well-reported. The comparative analysis of international rare diseases demonstrates that public authorities' priorities and recommendations regarding this topic also permeate and apply to the Brazilian context.

CONCLUSIONS: The evaluation and monitoring of public policies directed at rare disease patients are urgent and necessary to improve and implement such policies with less bureaucracy and more determination for this unique population that requires timely and high-quality care.

PMID:36429893 | DOI:10.3390/ijerph192215174

Cells. 2022 Nov 21;11(22):3702. doi: 10.3390/cells11223702.

ABSTRACT

Lysosome-related organelles (LROs) are a group of functionally diverse, cell type-specific compartments. LROs include melanosomes, alpha and dense granules, lytic granules, lamellar bodies and other compartments with distinct morphologies and functions allowing specialised and unique functions of their host cells. The formation, maturation and secretion of specific LROs are compromised in a number of hereditary rare multisystem disorders, including Hermansky-Pudlak syndromes, Griscelli syndrome and the Arthrogryposis, Renal dysfunction and Cholestasis syndrome. Each of these disorders impacts the function of several LROs, resulting in a variety of clinical features affecting systems such as immunity, neurophysiology and pigmentation. This has demonstrated the close relationship between LROs and led to the identification of conserved components required for LRO biogenesis and function. Here, we discuss aspects of this conserved machinery among LROs in relation to the heritable multisystem disorders they associate with, and present our current understanding of how dysfunctions in the proteins affected in the disease impact the formation, motility and ultimate secretion of LROs. Moreover, we have analysed the expression of the members of the CHEVI complex affected in Arthrogryposis, Renal dysfunction and Cholestasis syndrome, in different cell types, by collecting single cell RNA expression data from the human protein atlas. We propose a hypothesis describing how transcriptional regulation could constitute a mechanism that regulates the pleiotropic functions of proteins and their interacting partners in different LROs.

PMID:36429129 | DOI:10.3390/cells11223702

Pol Arch Intern Med. 2022 Nov 25;132(11):16363. doi: 10.20452/pamw.16363. Epub 2022 Nov 25.

NO ABSTRACT

PMID:36426771 | DOI:10.20452/pamw.16363

Sci Rep. 2022 Nov 24;12(1):20244. doi: 10.1038/s41598-022-24496-9.

ABSTRACT

Moyamoya disease (MMD) is a rare cerebrovascular disease endemic in East Asia. The p.R4810K mutation in RNF213 gene confers a risk of MMD, but other factors remain largely unknown. We tested the association of gut microbiota with MMD. Fecal samples were collected from 27 patients with MMD, 7 patients with non-moyamoya intracranial large artery disease (ICAD) and 15 control individuals with other disorders, and 16S rRNA were sequenced. Although there was no difference in alpha diversity or beta diversity between patients with MMD and controls, the cladogram showed Streptococcaceae was enriched in patient samples. The relative abundance analysis demonstrated that 23 species were differentially abundant between patients with MMD and controls. Among them, increased abundance of Ruminococcus gnavus > 0.003 and decreased abundance of Roseburia inulinivorans < 0.002 were associated with higher risks of MMD (odds ratio 9.6, P = 0.0024; odds ratio 11.1, P = 0.0051). Also, Ruminococcus gnavus was more abundant and Roseburia inulinivorans was less abundant in patients with ICAD than controls (P = 0.046, P = 0.012). The relative abundance of Ruminococcus gnavus or Roseburia inulinivorans was not different between the p.R4810K mutant and wildtype. Our data demonstrated that gut microbiota was associated with both MMD and ICAD.

PMID:36424438 | PMC:PMC9691692 | DOI:10.1038/s41598-022-24496-9

Genes (Basel). 2022 Nov 18;13(11):2154. doi: 10.3390/genes13112154.

ABSTRACT

TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistence of the left superior vena cava) is a rare genetic condition, caused by developmental defects during embryogenesis. The phenotypic spectrum of TARP shows high clinical variability with patients either missing cardinal features or having additional clinical traits. Initially, TARP was considered a lethal syndrome, but patients with milder symptoms were recently described. The TARP-locus was mapped to the gene RNA-binding motif protein 10 (RBM10) on the human X-chromosome. We clinically and genetically described a six-year-old boy with a TARP-phenotype. Clinical heterogeneity of symptoms prompted us to sequence the entire exome of this patient. We identified a novel splice variant (NM_005676: c.17+1G&gt;C, p.?) in RBM10. A patient-derived cell line was used to verify the pathogenicity of the RBM10 splice variant by RNA analyses, Western blotting, and immunofluorescence staining. Our molecular genetic findings together with the analyses of progressing clinical symptoms confirmed the diagnosis of TARP. It seems essential to analyze correlations between genotype, phenotype, and molecular/cellular data to better understand RBM10-associated pathomechanisms, assist genetic counseling, and support development of therapeutic approaches.

PMID:36421828 | PMC:PMC9691016 | DOI:10.3390/genes13112154

Ann Afr Med. 2022 Oct-Dec;21(4):461-465. doi: 10.4103/aam.aam_130_21.

ABSTRACT

Eosinophilic gastroenteritis (EGE) is a rare disease with a myriad of presentations. In this case series of four patients from South India, we describe three classical manifestations of the disease (mucosal, muscular, and serosal). Two of them had obstructive jaundice as a presenting complaint due to duodenal obstruction, whereas one had massive upper gastrointestinal bleed. There are very few case series regarding this disease from India. Its presentation as hemetemesis and obstructive jaundice is also very rare,with only few such case reports reported till now.

PMID:36412352 | DOI:10.4103/aam.aam_130_21