Maladies orphelines

J Child Adolesc Psychopharmacol. 2026 Jun 24:10445463261462382. doi: 10.1177/10445463261462382. Online ahead of print.ABSTRACTINTRODUCTION: Neurodevelopmental disorders (NDDs), including Autism Spectrum Disorder (ASD), Fragile X syndrome (FXS), and Rett Syndrome (RTT), share impairments in cognitive and behavioral functioning and may involve an altered excitatory/inhibitory balance modulated by the endocannabinoid system. This systematic review evaluated the safety and efficacy of cannabinoid-based products (CBPs) in these pediatric NDDs.METHODS: We conducted a systematic review according to Preferred Reporting Items of Systematic Reviews and Meta-Analyses (PRISMA) 2020, including randomized and nonrandomized studies of patients under 18 years treated with cannabidiol (CBD), cannabidivarin (CBDV), tetrahydrocannabinol (THC), or their combinations. Outcomes were adverse events (AEs) and treatment discontinuation, seizure reduction, and behavioral and cognitive changes. Study quality and certainty of evidence were assessed using design-specific risk-of-bias tools and the GRADE approach.RESULTS: Seventeen studies (two randomized controlled trials, observational studies, and case series) met the inclusion criteria. Across diagnoses, CBPs were generally associated with mild-to-moderate AEs and low discontinuation rates. Descriptive pooled proportions suggested behavioral improvements in ASD and FXS and seizure reduction in RTT, with exploratory analyses indicating differential effects of CBD versus CBD + THC on behavioral and cognitive outcomes in ASD.CONCLUSION: CBPs may offer potential benefits for selected behavioral symptoms and comorbid epilepsy in pediatric NDDs, but current evidence is insufficient to support routine clinical use. High-quality randomized controlled trials with standardized outcome measures and long-term follow-up are needed to clarify efficacy, safety, and syndrome-specific effects.PMID:42339654 | DOI:10.1177/10445463261462382

Z Rheumatol. 2026 Jul 7. doi: 10.1007/s00393-026-01849-7. Online ahead of print.ABSTRACTBACKGROUND: Rheumatoid arthritis (RA) and giant cell arteritis (GCA) are systemic autoimmune diseases with distinct clinical manifestations that are driven by dysregulation of multiple cell populations of the innate and adaptive immune systems.OBJECTIVE: The aim of this work is to describe and compare the role of central immune cell populations in RA and GCA.MATERIAL AND METHODS: This review is based on a comprehensive literature search in PubMed. Recent publications on immune cell populations in RA and GCA were assessed for their pathogenic significance and therapeutic implications.RESULTS: Both diseases show complex interactions between T cells, B cells, and cells of the innate immune system. A common feature is an imbalance between pro-inflammatory and regulatory mechanisms, ultimately leading to chronic inflammation and tissue damage. Key differences include a dominant role of autoreactive lymphocytes and autoantibodies in RA, whereas dendritic cells and T cell-mediated vascular inflammation are the main drivers in GCA.CONCLUSION: A deeper understanding of these immune cell populations enables new treatment strategies and could be particularly relevant for patients who do not adequately respond to current forms of treatment.PMID:42412170 | DOI:10.1007/s00393-026-01849-7

Medicine (Baltimore). 2026 Jul 3;105(27):e49593. doi: 10.1097/MD.0000000000049593.ABSTRACTRATIONALE: Atypical hemolytic uremic syndrome (aHUS) is a rare thrombotic microangiopathy (TMA) characterized by microangiopathic hemolytic anemia, thrombocytopenia, and organ dysfunction, particularly affecting the kidneys and the central nervous system. It is caused by genetic variants or autoantibodies involved in dysregulation of the complement system. Pathogenic variants of the complement factor H (CFH) gene are associated with severe disease and may lead to life-threatening multiorgan failure during the acute phase. We report a case of CFH mutation-positive aHUS complicated by recurrent posterior reversible encephalopathy syndrome (PRES) during the course of treatment.PATIENT CONCERNS: A 32-year-old woman presented with progressive fatigue and acute dyspnea. Laboratory tests revealed hemolytic anemia, thrombocytopenia, and severe acute kidney injury.DIAGNOSES: A peripheral blood smear revealed schistocytes, consistent with TMA. On hospital day 1, she developed generalized tonic-clonic seizures followed by respiratory arrest that required mechanical ventilation. Continuous hemodialysis was initiated for severe renal failure. After the exclusion of thrombotic thrombocytopenic purpura, typical hemolytic uremic syndrome, and secondary causes of TMA, a clinical diagnosis of aHUS was made. Genetic testing later revealed a pathogenic heterozygous CFH variant (c.3572C>T, p.Ser1191Leu), confirming the diagnosis of aHUS.INTERVENTIONS: Anti-C5 monoclonal antibody (eculizumab) was initiated based on the clinical diagnosis of aHUS. Intensive care management, including mechanical ventilation, renal replacement therapy, plasma exchange, and strict blood pressure control, was also provided.OUTCOMES: During the course of the disease, she developed severe cardiomyopathy and recurrent PRES. Early initiation of complement inhibition combined with intensive care management resulted in complete neurological recovery, and the patient was discharged home without any sequelae.LESSONS: This case highlights that CFH mutation-positive aHUS can be complicated by severe multiorgan dysfunction, including cardiomyopathy and recurrent PRES. Early clinical recognition and prompt initiation of complement inhibition were central to the favorable outcome, while intensive blood pressure control and comprehensive supportive care may have contributed to neurological recovery.PMID:42410819 | […]

Thromb Res. 2026 Jun 24;263:109767. doi: 10.1016/j.thromres.2026.109767. Online ahead of print.ABSTRACTBACKGROUND: Immune-mediated thrombotic thrombocytopenic purpura (iTTP) is a life-threatening disorder caused by anti-ADAMTS13 (A Disintegrin And Metalloproteinase with a ThromboSpondin type 1 motif, member 13) antibodies. Although therapeutic plasma exchange (TPE) and corticotherapy have long been the standard of care (SOC), rituximab and caplacizumab are increasingly incorporated into clinical practice. Given that these drugs significantly increase the costs of iTTP treatment, synthesizing the available evidence is important for coverage decisions in resource-limited settings.OBJECTIVES: To summarize and critically appraise systematic reviews with meta-analyses (SRMAs) evaluating effectiveness and safety of rituximab and caplacizumab for iTTP treatment.METHODS: PubMed, EMBASE, the Cochrane Library, and LILACS were searched up to August 2025. Two reviewers screened citations, with disagreements resolved by a third reviewer. Data extraction was performed by one reviewer and verified by another. Findings were synthesized narratively.RESULTS: Seven SRMAs were included: two evaluated rituximab and five caplacizumab. SRMAs of rituximab included non-randomized studies and reported reductions in mortality and relapse when added to SOC, although exacerbation and safety were not assessed. SRMAs of caplacizumab included two randomized and nine non-randomized studies. Mortality reduction with caplacizumab was not demonstrated in randomized trials, although real-world data suggested a survival benefit. Randomized trials showed reduced risk of exacerbation and increased risk of bleeding, but no consistent effect on relapse. All SRMAs were rated as critically low methodological quality.CONCLUSION: Although SRMAs suggest rituximab and caplacizumab may improve clinical response and survival, with more consistent evidence favoring rituximab, their critically low methodological quality highlights limitations in the current evidence base.PMID:42349304 | DOI:10.1016/j.thromres.2026.109767

Blood Cancer J. 2026 Jun 29. doi: 10.1038/s41408-026-01543-6. Online ahead of print.ABSTRACTMonotherapy with hypomethylating agents (HMA) remains the standard of care for patients with higher-risk myelodysplastic neoplasms (HR-MDS). Recently, the randomized phase III VERONA study evaluating azacitidine plus venetoclax (VEN) versus azacitidine plus placebo in newly diagnosed HR-MDS showed no difference in overall survival (OS) between the two arms. However, whether the addition of VEN to HMA improves outcomes among subsets of patients with HR-MDS remains debated. We analyzed 1907 patients with HR-MDS from 31 centers in 9 countries who were treated with HMA monotherapy or HMA/VEN in the frontline setting (HMA monotherapy: n = 1773; HMA/VEN: n = 134). Responses were assessed centrally by two investigators using the IWG 2023 response criteria. Addition of VEN improved composite complete remission (cCR) rates (48.8% vs. 27.7%; p < 0.001) but not CR rates (17.1% vs. 11.7%; p = 0.16). In multivariable logistic regression analysis, cCR remained favorable for HMA/VEN vs. HMA monotherapy (Odds Ratio [OR]: 2.49; 95% CI: 1.56-3.96; p < 0.001). However, we did not observe a statistically significant difference in OS for HMA/VEN vs. HMA monotherapy (Hazard Ratio [HR]: 0.83; 95% CI: 0.64-1.07; p = 0.15). In subgroup analyses, patients with TP53 wild-type disease (HR: 0.47; 95% CI: 0.29-0.74; p = 0.002) had a significant improvement in OS and those with ≥10% bone marrow blasts (HR: 0.73; 95% CI: 0.53-1.01; p = 0.06) had a trend towards OS benefit with HMA/VEN.PMID:42373605 | DOI:10.1038/s41408-026-01543-6

J Aerosol Med Pulm Drug Deliv. 2026 Aug;39(4):185-197. doi: 10.1177/19412711251414386. Epub 2026 Jan 13.ABSTRACTBACKGROUND: Idiopathic pulmonary fibrosis (IPF) is an incurable disease marked by irreversible fibrosis and declining respiratory function. Nintedanib inhalation powder is a novel dry powder inhalation formulation of nintedanib consisting of Technosphere® particles that deliver active drug directly to the lungs, aiming to reduce systemic effects associated with oral treatment. The objective of the present work was to assess whether nintedanib dry powder inhalation (DPI) has the potential to provide improved safety and thus effectiveness compared with that of currently available therapeutic options for IPF.METHODS: Three preclinical studies evaluated pharmacokinetic and toxicity outcomes associated with nintedanib inhalation powder. Two 28-day repeat-dose studies (one in rats and one in dogs), and a 6-month toxicity study in dogs assessed pulmonary and histological changes after inhaled nintedanib therapy. A phase 1, first-in-human, randomized, double-blind, placebo-controlled study evaluated the safety, tolerability, and pharmacokinetics of single and multiple ascending doses of nintedanib DPI versus placebo in healthy adults.RESULTS: In the 28-day repeat-dose studies and the 6-month study, animals survived to scheduled necropsy without significant adverse findings, including no gastrointestinal adverse findings, and most achieved target pulmonary-deposited nintedanib concentrations. The phase 1 study demonstrated dose-proportional increases in nintedanib plasma concentrations after single doses and rapid absorption of nintedanib, with maximum concentrations within a few minutes of first dose at levels consistent with deep lung deposition. Nintedanib inhalation powder was considered safe and well tolerated throughout the study duration.CONCLUSION: Inhaled administration of nintedanib via DPI may offer advantages over oral therapies in patients with IPF, potentially reducing adverse effects associated with systemic exposure. Results of the preclinical and phase 1 studies support continued assessment of this formulation in patients with IPF and other pulmonary fibrotic diseases.CLINICAL TRIAL REGISTRATION NUMBER: NCT06532942.PMID:42377397 | DOI:10.1177/19412711251414386

Epilepsy Behav Rep. 2026 Jun 4;35:100876. doi: 10.1016/j.ebr.2026.100876. eCollection 2026 Sep.ABSTRACTDevelopmental and epileptic encephalopathies such as Dravet syndrome and Lennox-Gastaut syndrome remain highly drug resistant and are associated with substantial neurodevelopmental, behavioral, and caregiver burdens. Fenfluramine, repurposed at low antiseizure doses, is approved as adjunctive therapy for both syndromes and has a distinct multimodal mechanism that combines serotonergic modulation with positive allosteric activity at the sigma-1 receptor. This narrative review summarizes key translational insights and the pivotal clinical trial evidence in Dravet syndrome and Lennox-Gastaut syndrome, including long-term open-label extension and emerging real-world data. Across randomized studies, fenfluramine reduces convulsive seizures in Dravet syndrome and drop seizures in Lennox-Gastaut syndrome, with clinically meaningful responder rates and durability over time. Particular attention is given to neurocognitive and behavioral outcomes, as caregiver-reported improvements in executive function have been observed in Dravet cohorts and may not be fully explained by seizure reduction alone. Given historical associations between high-dose fenfluramine and cardiopulmonary adverse effects, we also review cardiovascular safety findings at antiseizure doses and the rationale for baseline and periodic echocardiographic monitoring. Finally, practical dosing, drug-drug interaction considerations, and an integration algorithm are provided to support routine clinical implementation across pediatric and adult care pathways.PMID:42389070 | PMC:PMC13320519 | DOI:10.1016/j.ebr.2026.100876

BMJ Open. 2026 Jul 3;16(7):e117211. doi: 10.1136/bmjopen-2026-117211.ABSTRACTOBJECTIVE: Sickle cell disease (SCD) is one of the most common inherited haemoglobinopathies worldwide and the most prevalent monogenic disorder in the UK. Real-world implementation of existing guidance remains variable particularly in emergency and community settings. The study aims to build national consensus among multidisciplinary stakeholders as a crucial first step towards standardising practice and improving outcomes.DESIGN: Using a single-round modified Delphi methodology, a Steering Committee of six UK-based specialists identified key domains for discussion and generated 48 consensus statements relevant to the care of patients with SCD. Using a four-point Likert scale, a survey including all statements was disseminated among a wider audience of healthcare professionals (HCPs) to determine agreement. The threshold for agreement was set at ≥75%. Eligible participants for this study included National Health Service (NHS) haematologists (adult or paediatric) and clinical or community nurse specialists from across the UK.RESULTS: In total, 112 completed surveys were received. Consensus (≥75% agreement) was achieved for 46 of 48 statements (96%), including 32 (67%) that reached ≥90% agreement. The strongest consensus (>95%) was observed in statements emphasising the need for: broader access to specialist clinics and multidisciplinary care, prioritisation of community-based management and prevention of end-organ damage, education of emergency department staff on acute SCD management and improved HCP understanding of the multisystem nature of SCD and its psychosocial impacts. Two statements (S37, S43) did not meet the threshold, both concerning variability in adherence to national guidelines and allocation of dedicated SCD funding.CONCLUSIONS: A modified Delphi consensus achieved national multidisciplinary team expert recommendations to optimise NHS SCD care. These recommendations use expert opinion to clarify priorities, identify resource and education gaps, and aim to standardise practice for consistent, high-level patient care and robust outcome assessment.PMID:42398992 | DOI:10.1136/bmjopen-2026-117211

J Pediatr Nurs. 2026 Jul 6;90:366-375. doi: 10.1016/j.pedn.2026.06.027. Online ahead of print.ABSTRACTAIM: This study is aimed to undertake a fqualitative investigation into the lives of families with children diagnosed with Spinal Muscular Atrophy in Türkiye.METHODS: A qualitative exploratory-descriptive design was employed. Thirteen parents of children diagnosed with Spinal Muscular Atrophy were recruited through maximal variation purposive sampling, and data saturation guided sample size. Semi-structured interviews were conducted via telephone or online platforms between November 2022 and April 2023. Data were analyzed using thematic analysis approach and reported in accordance with the COREQ checklist.RESULTS: Thematic analysis of interview data revealed four main themes: uncertainty and emotional distress during the diagnosis process; the burden of daily care, particularly concentrated on parents; economic hardship; and access to treatment; coping strategies with social support from family and others with similar experiences; and uncertainty about the future, anxiety, and the search for hope shaped by fundraising campaigns.CONCLUSIONS: Parents of children diagnosed with Spinal Muscular Atrophy encounter considerable psychological, social and economic challenges in caring for their offspring. It is imperative that future research draws on a broader and more geographically diverse sample to translate these results into actionable, context-sensitive strategies for families and the professionals who support them.IMPLICATIONS FOR PRACTICE: It is imperative that paediatric nurses adopt a family-centred and empathic communication approach throughout the diagnostic process. In addition, they are required to provide psychosocial support to caregivers and facilitate access to home care, education, and counselling services.PMID:42407342 | DOI:10.1016/j.pedn.2026.06.027

Am J Case Rep. 2026 Jul 2;27:e953247. doi: 10.12659/AJCR.953247.ABSTRACTBACKGROUND Tacrolimus is widely used in solid-organ transplantation but has been associated with thrombotic microangiopathy (TMA), a rare yet potentially life-threatening complication that can result in graft dysfunction or loss. The reported incidence ranges from 1% to 4.7% in transplant recipients. Diagnosis is challenging because clinical manifestations overlap with rejection, infection, and other secondary causes, making timely recognition critical. CASE REPORT A 48-year-old kidney transplant recipient developed anemia, thrombocytopenia, and acute kidney injury 23 days after initiating tacrolimus for acute T-cell-mediated rejection. The patient also experienced neurologic and gastrointestinal symptoms. Microangiopathic hemolytic anemia was confirmed by the presence of schistocytes on peripheral smear, elevated lactate dehydrogenase, and low haptoglobin; gastrointestinal bleeding was excluded. Comprehensive diagnostic evaluation-including a disintegrin and metalloproteinase with thrombospondin type 1 motif, member 13 (ADAMTS13) activity, complement studies, coagulation testing, and infectious screening-excluded alternative etiologies of TMA. Although tacrolimus trough concentrations remained within the therapeutic range, the temporal association supported tacrolimus-induced TMA. Tacrolimus was promptly discontinued, resulting in complete hematologic and renal recovery within 10 days. During follow-up, tacrolimus reintroduction for refractory rejection led to recurrence of hemolytic anemia and thrombocytopenia, which again resolved after drug withdrawal. This dechallenge-rechallenge pattern yielded a Naranjo score of 9, indicating a definite adverse drug reaction. CONCLUSIONS This case highlights the importance of early recognition and systematic exclusion of competing etiologies when evaluating suspected drug-induced TMA. Distinguishing tacrolimus toxicity from rejection-related graft dysfunction is essential-prompt discontinuation of the offending agent can prevent irreversible kidney injury and graft loss.PMID:42391128 | DOI:10.12659/AJCR.953247

Neurol Genet. 2026 Jul 1;12(4):e200408. doi: 10.1212/NXG.0000000000200408. eCollection 2026 Aug.ABSTRACTBACKGROUND AND OBJECTIVES: Duchenne muscular dystrophy (DMD) is a progressive neuromuscular disorder caused by DMD pathogenic variants, leading to dystrophin deficiency, muscle degeneration, loss of ambulation, respiratory failure, and reduced life expectancy. Current treatments, such as corticosteroids and supportive care, offer limited long-term benefits. Delandistrogene moxeparvovec is a promising gene therapy developed to restore dystrophin expression and deliver microdystrophin to skeletal and cardiac muscles. This systematic review and meta-analysis evaluate the efficacy of this treatment in ambulatory pediatric patients with DMD.METHODS: A systematic search of Cochrane, PubMed, and Embase identified randomized controlled trials (RCTs) and cohort studies on delandistrogene moxeparvovec in ambulatory male children (≥4 to <8 years) with DMD. Primary outcomes included NSAA score changes, a 10-meter walk/run test (10MWR), time to rise (TTR), and dystrophin expression. Study selection followed PRISMA guidelines, and statistical analyses were conducted using R software. The study was registered in PROSPERO (CRD42025635605).RESULTS: We included 302 participants from 4 studies (2 RCTs). Follow-up ranged from 48 weeks to 5 years, with results analyzed at 1 year. Delandistrogene moxeparvovec was administered to 107 affected individuals, while 195 were in the control group. At 1 year, the therapy significantly improved NSAA scores (MD = 2.48, p = 0.04) and TTR (MD = -0.85, p < 0.01). Sensitivity analysis demonstrated improved 10MWR (MD = -0.71, p = 0.02). Muscle dystrophin content significantly increased (MD = 28.39, p < 0.01).DISCUSSION: Delandistrogene moxeparvovec, despite high heterogeneity for the analysis, improved functional outcomes in ambulatory pediatric patients with DMD. Further long-term RCTs are needed to confirm its safety and efficacy.PMID:42396397 | PMC:PMC13326780 | DOI:10.1212/NXG.0000000000200408

Eur J Haematol. 2026 Jul 3. doi: 10.1111/ejh.70260. Online ahead of print.ABSTRACTBACKGROUND: Severe sickle cell disease (SCD) leads to recurrent vaso-occlusive events (VOEs), progressive organ damage, and premature death. Autologous gene therapy has emerged as a potential curative strategy, but trial efficacy must be interpreted together with mobilization, apheresis collection, manufacturing, conditioning, cost, fertility preservation, and long-term surveillance requirements.OBJECTIVE: To evaluate the efficacy, safety, and treatment-delivery feasibility of autologous gene therapy for SCD across lentiviral, shmiR-BCL11A, CRISPR-Cas9, CRISPR-Cas12a, and base-editing platforms.METHODS: We searched PubMed, Embase, Scopus, Cochrane CENTRAL, ClinicalTrials.gov, FDA, and EMA sources, and ASH/EHA/EBMT/ASPHO conference proceedings through June 23, 2026. Eligible studies were interventional trials or long-term follow-up studies of autologous gene therapy for SCD. Two reviewers independently screened records, extracted data, and assessed risk of bias. Because endpoint definitions were heterogeneous and fewer than three prospectively comparable cohorts were available for the main efficacy outcomes, formal pooling and forest plots were not performed; outcome proportions are presented descriptively.RESULTS: The updated synthesis included 25 reports describing nine interventional clinical programs and associated follow-up reports, with 148 infused patients across lentiviral, shmiR, CRISPR-Cas9, CRISPR-Cas12a, and base-editing platforms. Prospectively defined VF12 was 96.7% (29/30) in the exa-cel pivotal cohort, and severe VOE resolution was 100% (25/25) in the lovo-cel pivotal cohort; both products achieved transfusion independence in evaluable patients. Reni-cel and risto-cel added contemporary Cas12a and base-editing evidence, with early follow-up showing high HbF induction and few or no reported post-infusion VOEs, but follow-up was shorter, and endpoints were not pooled with pivotal VF12 cohorts. Treatment-delivery outcomes differed across programs, including 44/46 infused for exa-cel and 35/47 infused for lovo-cel.CONCLUSION: Autologous gene therapy for SCD produces substantial short- to medium-term reductions in severe VOEs and improves hemoglobin biology, but certainty remains limited by single-arm designs, small samples, evolving protocols, and incomplete long-term follow-up. Successful delivery depends on separable processes: transfusion preparation, […]

BMC Nephrol. 2026 Jul 4. doi: 10.1186/s12882-026-05182-8. Online ahead of print.ABSTRACTBACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder and a leading cause of kidney failure. Although typically considered an adult-onset condition, a subset of patients present in utero or within the first 18 months of life (very early-onset ADPKD; VEO-ADPKD). This subgroup may experience a more severe disease course.METHODS: A systematic search of MEDLINE was conducted to identify studies reporting clinical, genetic, radiologic and kidney outcome data in children (< 18 years) with VEO-ADPKD. Case series including fewer than three VEO-ADPKD patients were excluded. ADPKD diagnosis was based on 2019 international consensus radiologic criteria, including age-appropriate cystic and/or enlarged kidneys, with supportive family history and/or genetic confirmation. Children with non-VEO-ADPKD reported within the same studies were included for comparison. Outcomes of interest included inheritance patterns, genetic profile, hypertension, proteinuria, chronic kidney disease (CKD), kidney failure, and perinatal death. Descriptive analyses and Bayesian model-averaged random-effects meta-analyses were performed using JASP (version 0.9.13) with a conditional model specification. A non-informative Beta (1,1) prior was used.RESULTS: Nineteen studies comprising 736 ADPKD children (VEO: 335, non-VEO: 401) met inclusion criteria. Bayesian model-averaged meta-analysis (8 studies) showed higher odds in VEO-ADPKD for hypertension (OR 2.08, 95% CrI 1.00-2.70; BF₁₀ 18.2), proteinuria (OR 1.58, 1.00-2.60; BF₁₀ 4.0), CKD (OR 1.77, 1.00-2.66; BF₁₀ 7.4) and kidney failure (OR 1.99, 1.00-2.69; BF₁₀ 10.6). Evidence for maternal inheritance in VEO-ADPKD was weak (OR 1.31, 1.00-2.44; BF₁₀ 1.6). Biallelic PKD1 mutations (38/158 vs. 0/147) and perinatal death (34/320 vs. 0/401) occurred exclusively in the VEO group and are reported descriptively, as complete separation precluded pooled estimation.CONCLUSION: VEO-ADPKD represents a distinct, high-risk pediatric phenotype characterized by earlier and more severe kidney involvement. These findings emphasize the importance of early diagnosis, comprehensive genetic evaluation, and close monitoring. Genetic testing is essential to identify children with biallelic mutations, representing a clinical entity more akin to mild autosomal recessive polycystic kidney disease. Standardized […]

PLoS One. 2026 Jul 6;21(7):e0349441. doi: 10.1371/journal.pone.0349441. eCollection 2026.ABSTRACTBACKGROUND: Sickle cell disease (SCD) stands as one of the most prevalent genetic disorders in the United States (U.S.) that causes severe consequences such as organ damage and excruciating pain. Alarmingly, recent literature indicates a decline in the number of people living with SCD (PLWSCD) seeking professional care - hinting at an avoidance of the healthcare system. Therefore, this scoping review synthesizes the evidence regarding barriers and facilitators influencing healthcare utilization among PLWSCD within the U.S.METHODS: To map the current literature on SCD management and provide a comprehensive overview of the current knowledge gaps regarding healthcare utilization for PLWSCD, a scoping review was conducted. A systematic search of articles reporting on the utilization of healthcare among PLWSCD in the U.S using seven data sources was conducted on March 24, 2023, without any restrictions on publication date and language. To capture any additional articles, the search was updated on March 4, 2024. Two reviewers independently assessed studies for inclusion, data extraction, and risk of bias (RoB).MAIN RESULTS: A total of 708 articles were screened; 70 met the study criteria. Results indicated that the four most common barriers were social (n = 25) interpersonal (n = 23), economic (n = 15), and institutional level factors (n = 11). The top four most common facilitators were technology (n = 9), education (n = 7), autonomy (n = 6), and a positive patient-provider relationship (n = 6). The most common forms of healthcare utilization were inpatient or hospital admissions (n = 19) and emergency department (ED) visits (n = 18). Evidence-based interventions (EBI) found to decrease healthcare avoidance included individualized pain plans (IPPs) (n = 4) and quality improvement (QI) strategies (n = 3).CONCLUSION: This scoping review identified complex multilevel barriers that impede healthcare utilization, and facilitators likely to promote healthcare utilization among PLWSCD in the U.S. Future research should prioritize developing and evaluating comprehensive, multi-level interventions that address identified barriers while leveraging facilitators to improve healthcare engagement and outcomes for this vulnerable population. Healthcare systems and health policies must urgently adopt and integrate evidence-based strategies to rebuild trust and ensure equitable, […]

Cutis. 2026 Apr;117(4):E19-E22. doi: 10.12788/cutis.1385.ABSTRACTHidradenitis suppurativa (HS), or acne inversa, is a chronic and inflammatory skin disease characterized by painful nodules and abscesses. The pathogenesis involves immune dysregulation, metabolic disturbances, and hormonal influences. Glucagonlike peptide 1 receptor agonists (GLP-1 RAs) are antidiabetic medications with anti-inflammatory properties and effects on weight reduction, which may be beneficial in HS management. Our objective was to systematically review the literature on the efficacy and safety of GLP-1 RAs in the treatment of HS. Three publications met the inclusion criteria. Preliminary evidence suggests that GLP-1 RAs may be an effective adjunct therapy for HS, especially in patients with obesity and metabolic syndrome. Larger controlled studies are warranted to confirm these findings and establish clinical guidelines.PMID:42411880 | DOI:10.12788/cutis.1385