Maladies orphelines

J Palliat Med. 2026 Jul 20:10966218261470489. doi: 10.1177/10966218261470489. Online ahead of print.ABSTRACTSickle cell disease (SCD) is an inherited hemoglobinopathy characterized by abnormal red blood cell sickling, leading to pain, organ dysfunction, and early mortality. Its severe, unpredictable course and the emergence of complex decisions surrounding transformative therapies have prompted recommendations to integrate palliative care (PC) to support patients and families. Advance care planning (ACP) is a component of PC that seeks to align medical care with patient values and preferences. Individuals with SCD may benefit from ACP throughout the lifespan, yet best practices remain poorly defined. This scoping review, conducted using Joanna Briggs Institute methodology and reported per PRISMA-ScR (PRISMA extension for scoping reviews) guidelines, explores what is known about ACP in SCD and identifies future research priorities. Nine articles published between 2010 and 2025 met inclusion criteria. The limited available evidence suggests that patients are open to ACP discussions with trusted clinicians, but few patients had participated in formal or informal ACP. Personal and environmental factors may influence ACP engagement, including patient-clinician trust, patient and clinician understanding of ACP in SCD, timing of ACP conversations, and previous experiences with critical illness or end-of-life care. Proposed steps for advancing ACP in SCD include education, early PC integration, and strengthened patient-clinician communication and relationships. This scoping review is the first to summarize proposed barriers, facilitators, and strategies to improve ACP for individuals living with SCD.PMID:42473827 | DOI:10.1177/10966218261470489

Int J Yoga. 2026 May-Aug;19(2):120-127. doi: 10.4103/ijoy.ijoy_64_25. Epub 2026 Jul 24.ABSTRACTThis scoping review aimed to explore and summarize the published evidence on yoga as an adjunctive intervention to standard rehabilitative care for individuals with Duchenne muscular dystrophy (DMD). A comprehensive literature search was conducted across five databases - PubMed/MEDLINE, SPORTDiscus, ProQuest Health and Medicine Collection, Web of Science Core Collection, and CINAHL - using the terms "Duchenne muscular dystrophy" (or DMD) and "yoga." Studies were included if they (1) were published between January 2000 and December 2024; (2) involved participants with DMD; (3) examined yoga as an intervention; (4) were peer-reviewed; and (5) were published in English. We used a standardized data extraction form to capture study characteristics, including authorship, publication year, sample size, participant demographics, intervention details, outcome measures, and main results. We assessed study quality with the Modified Downs and Black Checklist (MDBC). Six studies met the inclusion criteria. Five were rated as having fair quality (MDBC score: 15-17/28), and one was rated as having poor quality (MDBC score: 3/28). Yoga interventions incorporated asanas (postures), dhyana (meditation), and pranayama (breathing practices). Outcome measures varied widely, encompassing mobility, self-care, comfort, heart rate variability, respiratory function, quality of life, and functional performance. Modest improvements were noted in pulmonary function and self-reported well-being; however, evidence remains limited and inconsistent. Current literature provides preliminary support for yoga as a complementary therapy in DMD rehabilitation. More rigorous, large-scale trials are needed to establish their efficacy and clinical relevance.PMID:42553713 | PMC:PMC13436612 | DOI:10.4103/ijoy.ijoy_64_25

Pediatr Neurol. 2026 Jul 21;183:156-161. doi: 10.1016/j.pediatrneurol.2026.07.018. Online ahead of print.ABSTRACTBACKGROUND: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular condition marked by worsening muscle weakness, balance impairments, gait abnormalities, and reduced functional independence. Assessing balance accurately is important for tracking disease progression, determining the effectiveness of rehabilitation interventions and detecting the risk of falls in individuals with DMD. However, the clinical utility and measurement properties of available balance assessment tools in this population remain unclear. This scoping reviews systematically map and synthesize the evidence regarding clinical utility and measurement properties of balance assessment tools used in individuals with DMD.METHODS: A scoping review was conducted following a comprehensive search of PubMed, Physiotherapy Evidence Database, and Scopus databases yielding 4908 records. Six studies investigating the clinical utility and measurement properties of balance assessment tools in individuals with DMD were included. Data on reliability, validity, responsiveness, feasibility, and clinical applicability were extracted and synthesized.RESULTS: The included studies demonstrated favorable reliability, construct validity, and clinical feasibility including Timed Up and Go Test, Functional Reach Test, Functional Evaluation Scale-Duchenne Muscular Dystrophy-Gait Domain, North Star Ambulatory Assessment, Four Square Step Test, Dynamic Video Assessment, and Duchenne Muscular Dystrophy-Gait Assessment Scale.CONCLUSIONS: Current balance assessment tools used in DMD demonstrate promising clinical utility and acceptable measurement properties. However, further longitudinal studies are needed to establish responsiveness, measurement error, and long-term psychometric performance to support their broader application in clinical practice and research.PMID:42571775 | DOI:10.1016/j.pediatrneurol.2026.07.018

Clin Rev Allergy Immunol. 2026 Jul 31;69(1):62. doi: 10.1007/s12016-026-09186-y.ABSTRACTPulmonary involvement (PI) in ANCA-associated vasculitis (AAV), especially interstitial lung disease (ILD) and diffuse alveolar hemorrhage (DAH), predicts poor outcomes, but a synthesis distinguishing these phenotypes is lacking. We searched seven databases up to April 1, 2026, and included observational studies. Using univariate and multivariate meta-analyses, we calculated pooled odds ratios (OR) or mean differences (MD). Nineteen studies (2,944 patients) were included. For ILD, robust independent risk factors were age > 65 years (OR = 3.60) and male gender (OR = 2.57). MPO-ANCA positivity was more frequent in the ILD group (OR = 2.29). Potential associated factors included smoking, D-dimer, ANA, low C4, and CA199. MPA subtype, cough, and dyspnea were more frequent in the ILD group. Factors associated with lower ILD frequency included GPA subtype, PR3-ANCA positivity, c-ANCA positivity, ENT involvement, gastrointestinal involvement, and a higher BVAS score. For DAH, potential associated factors included proteinuria, high BVAS score, Cr, BUN, PCT, decreased Hb, and low C3. PR3-ANCA positivity and hemoptysis were more frequent in the DAH group. For overall PI, independent risk factors were age (continuous OR = 1.04, > 65 years OR = 4.20), male gender (OR = 3.08), and high BVAS (OR = 3.03). MPO-ANCA positivity (OR = 2.55) was more frequent in the overall PI group, which largely overlapped with those for ILD, suggesting that ILD is the main driver of overall PI. This first meta-analysis combining univariate and multivariate approaches with an evidence-grading framework for ILD demonstrates distinct clinical patterns for ILD versus DAH, offering a clinically actionable tool for risk stratification and personalized management of PI in AAV.PMID:42536106 | DOI:10.1007/s12016-026-09186-y

Zhongguo Zhong Yao Za Zhi. 2026 Jun;51(11):3067-3079. doi: 10.19540/j.cnki.cjcmm.20260309.901.ABSTRACTIdiopathic pulmonary fibrosis(IPF) is a fatal interstitial lung disease with limited clinical therapeutic options. Traditional Chinese medicine formulas, characterized by multi-component, multi-target, and holistic regulatory properties, have shown unique potential in the prevention and treatment of IPF. Yangyin Yifei Tongluo Pills(YF) is a TCM formula with demonstrated clinical efficacy. However, its modern pharmacological mechanism against IPF remains to be systematically elucidated. In this study, ultra-high-performance liquid chromatography coupled with quadrupole-Orbitrap high-resolution mass spectrometry(UHPLC-Q Exactive Orbitrap-HRMS) was employed to identify the chemical constituents of YF. A total of 76 potential bioactive compounds were characterized, including flavonoids, phenylpropanoids and other chemicals. By integrating network pharmacology and bioinformatics analyses, drug-related targets, IPF-associated targets, differentially expressed genes, and WGCNA-derived key module genes were intersected, yielding 15 potential targets. Based on a systematic evaluation using nine machine learning algorithms, arginase 1(ARG1) and matrix metalloproteinase 14(MMP14) were identified as key core targets. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes(KEGG) pathway enrichment analyses indicated that these targets were mainly involved in inflammatory regulation, signal transduction, and extracellular matrix(ECM) remodeling, with significant enrichment in key signaling pathways such as the TNF signaling pathway. Immune microenvironment analysis revealed that the expression levels of ARG1 and MMP14 were closely associated with immune and stromal cell infiltration characteristics. Molecular docking demonstrated favorable binding affinities between ARG1/MMP14 and several core components, including miltirone, peimine, cryptotanshinone, and sec-O-glucosylhamaudol, while molecular dynamics simulations further confirmed the conformational stability of miltirone and sec-O-glucosylhamaudol, as core potential bioactive components, with the targets under dynamic conditions. Collectively, these findings suggest that YF may exert anti-IPF effects by targeting ARG1 and MMP14 through its core potential bioactive components, synergistically modulating key processes including the immune microenvironment, fibroblast activation, and extracellular matrix remodeling. […]

Ann Pharmacother. 2026 Aug 3:10600280261467689. doi: 10.1177/10600280261467689. Online ahead of print.ABSTRACTBACKGROUND: Sodium-glucose cotransporter-2 inhibitors (SGLT2is) provide significant renoprotection in chronic kidney disease, but their efficacy in autosomal dominant polycystic kidney disease (ADPKD) remains unclear.OBJECTIVE: To systematically assess preclinical and clinical data regarding the effectiveness, safety, and mechanisms of SGLT2i in ADPKD.DATA SOURCES: PubMed, Embase, and Scopus were searched from database inception to May 2026.ELIGIBILITY CRITERIA: Preclinical polycystic kidney models and clinical trials/observational studies of ADPKD evaluating any SGLT2i.METHODS: Two reviewers independently screened studies and extracted data following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 standards. Bias was evaluated using SYRCLE and relevant clinical tools.RESULTS: Eleven studies satisfied the inclusion criteria: 4 preclinical rodent models, 1 current randomized controlled trial, and 6 observational/case-based clinical investigations. Preclinical results consistently showed decreased cyst load, inflammation, and fibrosis while also enhancing renal hemodynamics. Emerging clinical evidence demonstrated advantages in managing blood pressure, decreasing proteinuria, and improving metabolic measures, with slight or inconsistent effects on overall kidney volume. Diverse clinical data prevented quantitative meta-analysis.RELEVANCE TO PATIENT CARE AND CLINICAL PRACTICE: This review addresses a significant gap by comparing the functional and structural renal outcomes of SGLT2i in ADPKD. It indicates that although SGLT2i provides multi-pathway functional nephroprotection (natriuretic, anti-inflammatory, antifibrotic), structural reduction of cyst growth needs additional clinical validation. These results provide reassurance to clinicians concerning short-term safety and advocate for the use of SGLT2i as effective supplements to control blood pressure, metabolic markers, and proteinuria in ADPKD, regardless of structural kidney alterations.CONCLUSION: Preclinical findings suggest that SGLT2i provides renal protection in ADPKD through metabolic, anti-inflammatory, and antifibrotic mechanisms. Nevertheless, well-structured randomized controlled trials are necessary to validate long-term clinical effectiveness and safety.PMID:42544557 | DOI:10.1177/10600280261467689

Nephrol Dial Transplant. 2026 Aug 3:gfag167. doi: 10.1093/ndt/gfag167. Online ahead of print.ABSTRACTBACKGROUND: Thrombotic microangiopathy (TMA) is a rare and severe complication of systemic lupus erythematosus (SLE). While classically defined by microangiopathic hemolytic anemia, thrombocytopenia, and organ damage, TMA may also present as a renal-limited process requiring histologic diagnosis. Data characterizing the clinical phenotypes, histologic patterns, etiologic subtypes, and outcomes of SLE-associated TMA remain limited.METHODS: We conducted a retrospective cohort study of adults with SLE-TMA diagnosed between 2004 and 2024 at a tertiary referral center. TMA was defined by either hematologic criteria and/or kidney biopsy findings. Patients were categorized as having renal-hematologic TMA (RH-TMA) or renal-limited TMA (RL-TMA). Etiologic adjudication was performed using predefined clinical criteria, incorporating validated probability scores and serologic evaluation. Clinical characteristics, histologic findings, treatment, and long-term outcomes were analyzed by survival analyses.RESULTS: A total of 124 patients were included. The median age was 29 years and 90% were female. Kidney biopsy was performed in 81% of cases. Nearly half of cases (48%) presented as RL-TMA without hematologic manifestations. Compared with RH-TMA, RL-TMA was associated with a higher prevalence of chronic vascular lesions (aOR 2.84, 95%CI 1.04-7.78) and an increased risk of renal relapse (aHR 2.67, 95%CI 1.17-6.09), while mortality was higher in RH-TMA. Histologic activity pattern (acute vs. chronic lesions) was not associated with renal outcomes. Etiologic adjudication suggested three predominant phenotypes: suspected complement-mediated TMA (59.7%), antiphospholipid syndrome nephropathy (34.7%), and TTP-like TMA (5.6%). Patients with TTP-like presentations had more severe hematologic involvement but favorable renal recovery among survivors.CONCLUSION: SLE-associated TMA frequently presents as a renal-limited syndrome requiring biopsy for diagnosis. A phenotype-based approach identifies clinically relevant subgroups with distinct renal trajectories, even in the absence of systematic biomarker confirmation. These findings support a pragmatic diagnostic framework for SLE-TMA and highlight the importance of kidney biopsy in patients without overt hematologic features.PMID:42545749 | DOI:10.1093/ndt/gfag167

Pediatr Blood Cancer. 2026 Aug 4:e70529. doi: 10.1002/1545-5017.70529. Online ahead of print.ABSTRACTInfection/sepsis remains the number one cause of death among children under the age of 5 with sickle cell disease (SCD). Although clinical practice guidelines (CPGs) are an important tool for standardizing evidence-based care, the quantity and quality of existing CPGs for managing acute fever in children with SCD is unknown. We conducted a systematic review of CPGs published in the last 10 years addressing acute fever management in children with SCD. A PubMed search was conducted using standard search filters for CPGs, pediatrics, fever, and SCD. Additionally, a manual search of article citations, professional societies and consortia websites, and inquiries with experts was performed. CPGs were appraised by two reviewers using the Appraisal of Guidelines for Research and Evaluation II (AGREE II) instrument [http://www.agreetrust.org]. Results are summarized using descriptive statistics. The systematic and manual searches yielded 839 articles; 8 CPGs met inclusion criteria, but none were dedicated SCD acute fever CPGs. Geographic representation included France, India, Italy, Nigeria, sub-Saharan Africa, the United Kingdom, and the United States. The mean overall quality score was 46% (range 25%-67%). Rigorously developed CPGs focused on managing acute fever in children with SCD are lacking. This work highlights the need to generate a high-quality evidence-based CPG for managing acute fever in pediatric SCD.PMID:42549946 | DOI:10.1002/1545-5017.70529

Clin Appl Thromb Hemost. 2026 Jan-Dec;32:10760296261476820. doi: 10.1177/10760296261476820. Epub 2026 Aug 6.ABSTRACTBackgroundImmune thrombocytopenia (ITP) is an autoimmune disorder characterized by isolated thrombocytopenia and increased bleeding risk. Although first-line therapies such as corticosteroids and intravenous immunoglobulin provide initial benefit, many patients relapse or develop refractory disease. Romiplostim, a thrombopoietin receptor agonist, has emerged as an effective second-line therapy; however, evidence comparing its efficacy and safety with placebo across both pediatric and adult populations remains limited.MethodsA systematic review and meta-analysis of randomized controlled trials (RCTs) was conducted following PRISMA guidelines (PROSPERO: CRD420261357179). PubMed, Scopus, Cochrane Library, and Google Scholar were searched up to March 2026. RCTs comparing romiplostim with placebo in ITP patients were included. A random-effects model was used to calculate mean differences (MD) and risk ratios (RR) with 95% confidence intervals (CI). Risk of bias was assessed using the Cochrane RoB 2 tool. Certainty of evidence was evaluated using the GRADE approach.ResultsNine RCTs (n=748) were included. Romiplostim significantly increased platelet counts at week 2 (MD 25.71; 95% CI 9.41-42.02), week 4 (MD 42.74; 95% CI 26.82-58.66), week 6 (MD 50.42; 95% CI 33.87-66.97), and week 8 (MD 49.14; 95% CI 20.45-77.83), with larger effects in adults. Platelet response rates were significantly higher with romiplostim (RR 6.10). The proportion achieving ≥20×109/L increase improved (RR 3.23), and the need for rescue therapy decreased (RR 0.49). Adverse events were comparable between groups, with slight increases in myalgia and rash.ConclusionRomiplostim is an effective and well-tolerated therapy for ITP, significantly improving platelet outcomes and reducing rescue therapy requirements without major safety concerns.PMID:42559680 | DOI:10.1177/10760296261476820

Eur Arch Otorhinolaryngol. 2026 Aug 7. doi: 10.1007/s00405-026-10517-0. Online ahead of print.ABSTRACTPURPOSE: Ear, nose, and throat (ENT) manifestations are common in antineutrophil cytoplasmic antibody-associated vasculitis (AAV). Although timely intervention is crucial, diagnosis and treatment are often delayed due to its rarity and nonspecific symptoms. Currently, no standardized tool exists to assess AAV activity in the ENT region. This study aims to determine key indicators of active AAV in the ENT region, thereby supporting the development of a systematic examination method.METHODS: A qualitative exploratory multicentre study was conducted. In-depth interviews with four otorhinolaryngologists were thematically analysed. Identified ENT symptoms and rhinoscopic findings associated with AAV were compiled, and statements regarding diagnosis and management were formulated. These items then formed the basis of an online survey presented to Dutch otorhinolaryngologists. Respondents rated items on a 0-10 agreement scale.RESULTS: Of 29 initiated surveys, 25 (86.2%) were completed. Highest-rated symptoms supporting active AAV included nasal crusting (9.7/10), systemic symptoms (7.5/10), no effect of conventional therapy for chronic rhinosinusitis (7.6/10) and epistaxis (7.5/10). Most suspect rhinoscopic findings were nasal crusting (9.3/10), mucosal haemorrhaging (8.8/10) and septal perforation (8.6/10). Respondents strongly agreed that ENT involvement should be monitored by an otorhinolaryngologist (8.3/10), nasal lavage should precede rhinoscopy (7.6/10) and thorough nasal hygiene instructions should be provided (9.1/10).CONCLUSION: Key indicators of AAV activity include nasal crusting, lack of response to conventional treatment, systemic symptoms, nasal crusting, mucosal haemorrhaging and septal perforation. These data may facilitate the establishment of a standardized scoring system to optimize diagnostic accuracy and disease monitoring.PMID:42562907 | DOI:10.1007/s00405-026-10517-0

JPRAS Open. 2026 Jun 17;51:430-443. doi: 10.1016/j.jpra.2026.06.005. eCollection 2026 Sep.ABSTRACTBACKGROUND: Hidradenitis suppurativa (HS) is a chronic, relapsing inflammatory disease in which wide excision remains the most reliable option for durable disease control in moderate to severe cases. Reconstruction after excision is challenging. Reused or recycled split-thickness skin grafts, harvested from excised HS tissue and reapplied after processing, have been proposed to reduce donor-site morbidity, but their clinical value remains uncertain.OBJECTIVE: To systematically evaluate the outcomes of reused skin grafts following surgical excision of HS, with emphasis on recurrence, graft take and procedure-related morbidity.METHODS: A PRISMA-compliant systematic review was conducted using PubMed, Web of Science and Google Scholar from inception to the final search date. Studies reporting HS excision followed by reused or recycled skin grafting were included. Outcomes of interest were recurrence, graft survival, complications and follow-up duration. Given heterogeneity, a narrative synthesis was performed. Risk of bias was assessed using design-appropriate tools.RESULTS: Sixteen studies met inclusion criteria, including five systematic reviews, two retrospective cohorts and nine case reports or small case series. Primary reused-graft reports comprised approximately 41 patients with follow-up ranging from 6 to 113 months. Across these series, no surgical-site recurrences were reported (0/41), corresponding to an exact 95% confidence interval of 0-7.0%. Complications were generally minor. However, in the largest reused-graft series, which included 18 patients, 8 (44%) required supplemental conventional donor grafts. Broader pooled estimates from conventional graft literature reported recurrence rates ranging from 2% to 18%, reflecting substantial heterogeneity.CONCLUSIONS: Reused skin grafting appears feasible and safe in selected HS patients, with encouraging short- to medium-term durability. Current evidence supports feasibility rather than definitive comparative effectiveness, underscoring the need for well-designed prospective studies.PMID:42565004 | PMC:PMC13446193 | DOI:10.1016/j.jpra.2026.06.005

Osteoporos Int. 2026 Aug 11. doi: 10.1007/s00198-026-08174-4. Online ahead of print.ABSTRACTDuchenne muscular dystrophy (DMD) is an X-linked recessive disorder that is due to mutations in the dystrophin gene which encodes the dystrophin protein. Many patients face an increased risk of bone fragility and develop secondary osteoporosis as a result of the combined effects of progressive muscle weakness, immobilization, and the osteotoxic properties of glucocorticoids (GCs). The present study showed that the prevalence of low BMD and fracture in DMD patients reached as high as 0.62 and 0.38, respectively, with contributing risk factors extending beyond GCs and loss of ambulation to include older age, vitamin D deficiency, fat mass accumulation, and hormonal imbalances. Therefore, clinical trials of bone-protective therapies and strategies to improve bone health in boys with DMD are urgently warranted.PURPOSE: Poor skeletal health, characterized by rapid bone mineral density decline, causes substantial morbidity in patients with Duchenne muscular dystrophy (DMD). The present systematic review and meta-analysis aimed to review comprehensive findings on the prevalence and risk factors of low bone mineral density (BMD) and fractures in DMD.METHODS: PubMed, Embase, Cochrane library, and Web of Science databases were systematically searched for studies reporting prevalence of fractures, low BMD, or data on risk factors in DMD patients. Random‑effects meta‑analyses estimated pooled prevalence of low BMD and fractures. Subgroup analyses examined variations by region, GCs use, fracture location, and ambulatory stage.RESULTS: A total of 43 studies involving 4940 patients were reviewed. The prevalence of low BMD from 0.16 to 0.93, with an overall prevalence of 0.62 (95% CI, 0.45-0.79). Fracture prevalence spanned from 0.07 to 0.87, yielding a pooled estimate of 0.38 (95% CI, 0.32-0.43). North America had the highest fracture prevalence at 0.47 (95% CI, 0.39-0.56), followed by Oceania at 0.47 (95% CI, 0.40-0.54), Europe at 0.30 (95% CI, 0.24-0.37), and Asia at the lowest 0.17 (95% CI, 0.07-0.27). Fracture prevalence was higher in glucocorticoids (GCs)-treated patients (0.39 vs. 0.23 in non-GCs) and increased with longer GCs duration, being 0.23 (95% CI, 0.11-0.35) for 3 years, 0.33 (95% CI, 0.24-0.43) for 3-6 years, and 0.59 (95% CI, 0.42-0.75) for ≥ 6 years of GCs exposure. Bone fragility in DMD is driven by multifactorial risk factors, with contributors extending […]