Browsing by Issue Date, starting with "2023-10"
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- 2023 ACR/EULAR antiphospholipid syndrome classification criteriaPublication . Barbhaiya, Medha; Zuily, Stephane; Naden, Ray; Hendry, Alison; Manneville, Florian; Amigo, Mary-Carmen; Amoura, Zahir; Andrade, Danieli; Andreoli, Laura; Artim-Esen, Bahar; Atsumi, Tatsuya; Avcin, Tadej; Belmont, Michael H; Bertolaccini, Maria Laura; Branch, D Ware; Carvalheiras, Graziela; Casini, Alessandro; Cervera, Ricard; Cohen, Hannah; Costedoat-Chalumeau, Nathalie; Crowther, Mark; de Jesús, Guilherme; Delluc, Aurelien; Desai, Sheetal; Sancho, Maria De; Devreese, Katrien M; Diz-Kucukkaya, Reyhan; Duarte-García, Ali; Frances, Camille; Garcia, David; Gris, Jean-Christophe; Jordan, Natasha; Leaf, Rebecca K; Kello, Nina; Knight, Jason S; Laskin, Carl; Lee, Alfred I; Legault, Kimberly; Levine, Steve R; Levy, Roger A; Limper, Maarten; Lockshin, Michael D; Mayer-Pickel, Karoline; Musial, Jack; Meroni, Pier Luigi; Orsolini, Giovanni; Ortel, Thomas L; Pengo, Vittorio; Petri, Michelle; Pons-Estel, Guillermo; Gomez-Puerta, Jose A; Raimboug, Quentin; Roubey, Robert; Sanna, Giovanni; Seshan, Surya V; Sciascia, Savino; Tektonidou, Maria G; Tincani, Angela; Wahl, Denis; Willis, Rohan; Yelnik, Cécile; Zuily, Catherine; Guillemin, Francis; Costenbader, Karen; Erkan, DorukObjective: To develop new antiphospholipid syndrome (APS) classification criteria with high specificity for use in observational studies and trials, jointly supported by the American College of Rheumatology (ACR) and EULAR. Methods: This international multidisciplinary initiative included four phases: (1) Phase I, criteria generation by surveys and literature review; (2) Phase II, criteria reduction by modified Delphi and nominal group technique exercises; (3) Phase III, criteria definition, further reduction with the guidance of real-world patient scenarios, and weighting via consensus-based multicriteria decision analysis, and threshold identification; and (4) Phase IV, validation using independent adjudicators' consensus as the gold standard. Results: The 2023 ACR/EULAR APS classification criteria include an entry criterion of at least one positive antiphospholipid antibody (aPL) test within 3 years of identification of an aPL-associated clinical criterion, followed by additive weighted criteria (score range 1-7 points each) clustered into six clinical domains (macrovascular venous thromboembolism, macrovascular arterial thrombosis, microvascular, obstetric, cardiac valve, and hematologic) and two laboratory domains (lupus anticoagulant functional coagulation assays, and solid-phase enzyme-linked immunosorbent assays for IgG/IgM anticardiolipin and/or IgG/IgM anti-β2-glycoprotein I antibodies). Patients accumulating at least three points each from the clinical and laboratory domains are classified as having APS. In the validation cohort, the new APS criteria vs the 2006 revised Sapporo classification criteria had a specificity of 99% vs 86%, and a sensitivity of 84% vs 99%. Conclusion: These new ACR/EULAR APS classification criteria were developed using rigorous methodology with multidisciplinary international input. Hierarchically clustered, weighted, and risk-stratified criteria reflect the current thinking about APS, providing high specificity and a strong foundation for future APS research.
- Challenges in the Definitive Diagnosis of Niemann–Pick Type C—Leaky Variants and Alternative TranscriptsPublication . Encarnação, Marisa; Ribeiro, Isaura; David, Hugo; Coutinho, Maria Francisca; Quelhas, D; Alves, SandraNiemann-Pick type C (NPC, ORPHA: 646) is a neuro-visceral, psychiatric disease caused predominantly by pathogenic variants in the NPC1 gene or seldom in NPC2. The rarity of the disease, and its wide range of clinical phenotypes and ages of onset, turn the diagnosis into a significant challenge. Other than the detailed clinical history, the typical diagnostic work-up for NPC includes the quantification of pathognomonic metabolites. However, the molecular basis diagnosis is still of utmost importance to fully characterize the disorder. Here, the authors provide an overview of splicing variants in the NPC1 and NPC2 genes and propose a new workflow for NPC diagnosis. Splicing variants cover a significant part of the disease-causing variants in NPC. The authors used cDNA analysis to study the impact of such variants, including the collection of data to classify them as leaky or non-leaky pathogenic variants. However, the presence of naturally occurring spliced transcripts can misdiagnose or mask a pathogenic variant and make the analysis even more difficult. Analysis of the NPC1 cDNA in NPC patients in parallel with controls is vital to assess and detect alternatively spliced forms. Moreover, nonsense-mediated mRNA decay (NMD) analysis plays an essential role in evaluating the naturally occurring transcripts during cDNA analysis and distinguishing them from other pathogenic variants' associated transcripts.
- Recurrent Appendicitis in Children: The Impact of a Poorly Known DiseasePublication . Monteiro, Sara; Capela, Mariana; Araújo, Ana Rita; Tavares, Marta; Pinto, JoãoChronic and recurrent appendicitis is rare in pediatric patients and can be easily misdiagnosed due to its unusual presentation and low incidence rate. We present the case of an 11-year-old male with recurrent right lower quadrant (RLQ) pain persisting for 19 months. The patient experienced pain flare-ups accompanied by paleness and gait limp, without fever or other symptoms. Despite extensive medical examinations, including imaging and endoscopy, a definitive diagnosis remained elusive. As serial abdominal ultrasounds reported an appendix at the upper limit of the normal caliber and symptoms persisted despite medical therapy, a diagnostic laparoscopy was performed, revealing a congested ileocecal appendix with erosions and granulocytic inflammatory infiltrate, consistent with appendicitis. Post-appendectomy, the patient's symptoms resolved, significantly improving his quality of life (QoL), as evidenced by the DISABKIDS Chronic Generic Module (DCGM). This case underscores the challenges in diagnosing chronic and recurrent appendicitis, emphasizing the need for improved awareness, case definitions, and research to better understand and manage these conditions. Moreover, the report highlights the substantial impact of such conditions on patients' physical, social, and psychological well-being using the only health-related QoL instrument developed across cultures for children with chronic diseases: the DCGM.
- The potential of a multimodal digital care program in addressing healthcare inequities in musculoskeletal pain managementPublication . Areias, Anabela C.; Molinos, Maria; Moulder, Robert G.; Janela, Dora; Scheer, Justin K.; Bento, Virgílio; Yanamadala, Vijay; Cohen, Steven P.; Dias Correia, Fernando; Costa, FabíolaDigital interventions have emerged as a solution for time and geographical barriers, however, their potential to target other social determinants of health is largely unexplored. In this post-hoc analysis, we report the impact of social deprivation on engagement and clinical outcomes after a completely remote multimodal musculoskeletal (MSK) digital care program managed by a culturally-sensitive clinical team. Patients were stratified in five categories according to their social deprivation index, and cross-referenced with their race/ethnicity, rurality and distance to healthcare facilities. From a total of 12,062 patients from all U.S. states, 8569 completed the program. Higher social deprivation was associated with greater baseline disease burden. We observed that all categories reported pain improvements (ranging from -2.0 95%CI -2.1, -1.9 to -2.1 95%CI -2.3, -1.9, p < 0.001) without intergroup differences in mean changes or responder rates (from 59.9% (420/701) to 66.6% (780/1172), p = 0.067), alongside reduction in analgesic consumption. We observed significant improvements in mental health and productivity across all categories, with productivity and non-work-related functional recovery being greater within the most deprived group. Engagement was high but varied slightly across categories. Together these findings highlight the importance of a patient-centered digital care program as a tool to address health inequities in musculoskeletal pain management. The idea of investigating social deprivation within a digital program provides a foundation for future work in this field to identify areas of improvement.
- Ambiguous Genitalia: An Unexpected Diagnosis in a NewbornPublication . Losa, Ana; Da Silva Cardoso, Juliana; Leite, Sara; Barros, Ana Cristina; Guedes, Ana; Rodrigues, Cidade; Borges, Teresa; Oliva-Teles, Natália; Soares, Ana Rita; Mota, CéuAlterations in gonad formation or function can lead to congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical. These conditions are referred to as disorders of sex development (DSD) and have a heterogeneous etiology. The assessment of these children by a multidisciplinary team is crucial for an accurate diagnosis and should be initiated promptly due to the potentially life-threatening nature of congenital adrenal hyperplasia, a common cause of DSD. We present a neonate born at 39 weeks with a weak cry, slight hypotonia, poor suction reflex, peculiar facies, and ambiguous genitalia. From the study carried out, the abdominopelvic ultrasound revealed a nodular structure compatible with the left gonad. Aneuploidy screening confirmed the presence of the Y chromosome. Additionally, normal endocrinological studies and the karyotype showed a genotype compatible with cri-du-chat syndrome with partial trisomy of chromosome 3. Children with cri-du-chat syndrome characteristically exhibit a cat-like cry and distinctive facial features, along with developmental delay and intellectual disability. Duplication of 3p is a rare genetic disorder, usually associated with other chromosomal anomalies and congenital malformations, namely, of the genitals
- Living Donors’ Age Modifies the Impact of Pre-Donation Estimated Glomerular Filtration Rate on Graft SurvivalPublication . Almeida, Manuela; Ribeiro, Catarina; Silvano, José; Pedroso, Sofia; Tafulo, Sandra; Martins, La Salete; Ramos, Miguel; J, MalheiroBackground: The global scarcity of organs for kidney transplants (KTs) has led to the increased acceptance of living donors (LDs) with minor abnormalities to increase the donor pool.. We sought to evaluate the effects of some of these LDs' clinical characteristics (older age, borderline renal function, hypertension, dyslipidemia, smoking, and obesity) on graft outcomes. Methods: We studied 352 recipients of LDKTs (1998-2020). Firstly, considering the recipients and KT variables, we identified relevant predictors of overall and censored graft failure (GF). Then, adjusting for these predictors, we explored LD variables as predictors of overall and censored GF in a multivariable Cox model. Results: The recipients from LD with higher eGFR (≥90 mL/min/1.73 m2) had significantly better overall and censored graft survival GS) at 15 y after KT (respectively, 67 and 75% vs. 46 and 46%, p < 0.001). Importantly, none of the remaining LD factors which were evaluated (hypertension, dyslipidemia, smoking, proteinuria, and obesity) were independent predictors of GF. In recipients from LDs < 50 y, having an eGFR < 90 was an independent predictor of overall GF [adjusted HR (95%CI) of 2.578 (1.120-5.795)] and censored GF [adjusted HR (95%CI) of 3.216 (1.300-7.959)], compared to recipients from LDs with eGFR ≥ 90. Contrarily, when donors were older, no difference in the risk of GF was observed between eGFR categories. Conclusion: In our cohort, lower pre-donation eGFR had an impact on GS only in younger LDs. An age-adjusted eGFR cutoff may be pursued for improved donor admissibility.
- Incidental Adrenal Masses: A Case Report of an Adrenal OncocytomaPublication . Giesteira, Bruno; Sousa, Jessica; Pinheiro Amorim, JoãoA 59-year-old woman underwent an abdominal and pelvic computed tomography (CT) scan to rule out non-obstructive urolithiasis. The patient was asymptomatic, with the exception of occasional bilateral low back pain. A physical examination did not reveal any notable findings. The CT scan revealed the presence of an incidental solid left adrenal lesion, which displaced the body of the pancreas and the left kidney. The lesion measured 7 cm × 6.5 cm and exhibited a rounded morphology with well-defined margins. It showed progressive and heterogeneous contrast uptake. Additionally, magnetic resonance imaging (MRI) was performed, confirming the presence of an adrenal lesion with intense and heterogeneous hypersignal on T2. The lesion also demonstrated heterogeneous and persistent enhancement in a dynamic study. Furthermore, there were some indistinct and non-specific hypointense areas identified on both T1 and T2 sequences. The lesion exhibited moderately restricted diffusion. Although the imaging features were non-specific, there were no indications of invasion or distant metastasis, which made a benign large adrenal mass the most likely diagnosis. Non-functioning pheochromocytoma, lipid-poor adrenal adenoma, as well as metastasis or primary adrenal carcinoma, were considered differential diagnoses. The patient underwent an elective adrenalectomy, during which the identified lesion was completely resected. The patient's postoperative recovery was uneventful, and she was discharged three days after the procedure. Subsequent histopathological evaluation revealed an oncocytic neoplasm of the adrenal cortex - specifically, an oncocytoma.
- Does the Association Between Psychosocial Factors and Opioid Use After Elective Spine Surgery Differ by Sex in Older Adults?Publication . Aglio, Linda; Mezzalira, Elisabetta; Corey, Sarah M; Fields, Kara G; Hauser, Blake M; Susano, Maria J; Culley, Deborah; Schreiber, Kristin; Kelly-Aglio, Nicole; Patton, Megan; Mekary, Rania; Edwards, RobertPurpose: Psychosocial disorders have been linked to chronic postoperative opioid use and the development of postoperative pain. The potential interaction between sex and psychosocial factors with respect to opioid use after elective spine surgery in the elderly has not yet been evaluated. Our aim was to assess whether any observed association of anxiety or depression indicators with opioid consumption in the first 72 hours after elective spine surgery varies by sex in adults ≥65 years. Patients and methods: Secondary analysis of a retrospective cohort of 647 elective spine surgeries performed at Brigham and Women's Hospital, July 1, 2015-March 15, 2017, in patients ≥65. Linear mixed-effects models were used to test whether history of anxiety, anxiolytic use, history of depression, and antidepressant use were associated with opioid consumption 0-24, 24-48, and 48-72 post surgery, and whether these potential associations differed by sex. Results: History of anxiety, anxiolytic use, history of depression, and antidepressant use were more common among women (51.3% of the sample). During the first 24 hours after surgery, men with a preoperative history of anxiety consumed an adjusted mean of 19.5 morphine milligram equivalents (MME) (99.6% CI: 8.1, 31.0) more than men without a history of anxiety; women with a history of anxiety only consumed an adjusted mean 2.9 MME (99.6% CI: -3.1, 8.9) more than women without a history of anxiety (P value for interaction between sex and history of anxiety <0.001). No other interactions were detected between sex and psychosocial factors with respect to opioid use after surgery. Conclusion: Secondary analysis of this retrospective cohort study found minimal evidence that the association between psychosocial factors and opioid consumption after elective spine surgery differs by sex in adults ≥65.
- Spontaneous Pneumomediastinum: A Rare Cause of Chest PainPublication . Barroso, Daniela; Rocha, Diana I.; Abelha Pereira, Filipa; Ribeiro, Rui; Pimenta Fernandes, João; Pais Monteiro, Ana; Silva, Isabel Fonseca; Gonçalves, FabienneSpontaneous pneumomediastinum is a rare medical condition characterized by the presence of free air in the mediastinum, not preceded by trauma, surgery, or another medical procedure. It predominantly affects young adult males and usually has a benign course, and in most cases, it is not possible to identify the precipitating factor. There are some conditions that predispose to its occurrence, namely those that lead to an increase in intrapleural pressure, such as coughing, vomiting, or vigorous exercise. We report a case of a 21-year-old male who presented with acute-onset shortness of breath after an episode of coughing and was found to have mediastinal and subcutaneous emphysema. Clinical, laboratory, and radiological studies did not demonstrate any predisposing factor, and the case was classified as spontaneous pneumomediastinum