Publications by authors named "Chimenti M"
Objective: Oculoauriculovertebral spectrum (OAVS) encompasses abnormalities on derivatives from the first and second pharyngeal arches including macrostomia, hemifacial microsomia, micrognathia, preauricular tags, ocular, and vertebral anomalies. We present genetic findings on a 3-generation family affected with macrostomia, preauricular tags and ptosis following an autosomal dominant pattern.
Design: We generated whole-genome sequencing data for the proband, affected father, and unaffected paternal grandmother followed by Sanger sequencing on 23 family members for the top candidate gene mutations.
Bone marrow transplantation (BMT) is mainly performed to restore an anti-tumor immune response, called the graft-versus-tumor (GVT) effect, against leukemia, myeloma and lymphoma. This GVT reactivity is driven by donor T cells, and it can also cause lethal graft-versus-host disease (GVHD). We previously demonstrated that the colonization of mice with helminths preserves the GVT response while suppressing GVHD.
View Article and Find Full Text PDFSpondyloarthritis (SpA) is a group of chronic inflammatory diseases affecting the spine and peripheral joints, causing pain, stiffness, and reduced mobility. This narrative review examines how lifestyle factors-specifically smoking, alcohol consumption, and unhealthy diet-contribute to the onset and progression of SpA. It highlights their impact on disease activity, comorbidities, radiographic damage, and treatment response.
View Article and Find Full Text PDFBackground: Disturbances in the intricate processes that control craniofacial morphogenesis can result in birth defects, most common of which are orofacial clefts (OFCs). Nonsyndromic cleft lip (nsCL), one of the phenotypic forms amongst OFCs, has a non-random laterality presentation with the left side being affected twice as often compared to the right side. This study investigates the etiology of nsCL and the factors contributing to its laterality using a pair of monozygotic twins with mirror-image cleft lip.
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- People with Alzheimer's disease experience early mood, sleep, and arousal changes due to brain changes, especially in the dorsal raphe nucleus (DRN), but it’s unclear why all serotonin-producing neurons are not equally affected.
- The study aimed to explore genetic factors that influence how susceptible or resistant these serotonin neurons are to Alzheimer's disease pathology using advanced spatial gene expression analysis in a mouse model.
- The results showed that specific genes related to AD are differently expressed in the DRN of these mice, and that the loss of serotonin neurons and tau pathology is particularly pronounced in a specific region of the DRN, highlighting the importance of studying genetic and regulatory factors in Alzheimer's.
Article Synopsis
- The study aimed to explore gender differences in the phenotypical expression of Behçet's disease (BD) using data from the International AIDA Network Registry, focusing on damage index, disease manifestations, and cardiovascular risk.
- A total of 1024 patients (567 males and 457 females) were examined, revealing that males had a significantly higher overall damage index and more frequent occurrences of uveitis and vascular involvement, while females showed higher instances of arthralgia, arthritis, and CNS involvement.
- Key factors associated with major organ involvement included male gender, treatment with biologic agents, origin from endemic regions, and longer disease duration, indicating a more severe course of BD in males compared to females.
A semi-volatile polychlorinated biphenyl (PCB) congener, PCB52, is present in the indoor air of schools; however, the effects of inhaled PCB52 on the brain have not been investigated. This study exposed male Sprague-Dawley rats at 39 days of age and female rats at 42 days of age to PCB52 for 4 hours per day over 28 consecutive days through nose-only inhalation. Neurobehavioral tests were conducted during the last 5 days of exposure.
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- The study focused on understanding neuropathic pain in different types of spondyloarthritis (SpA), such as axial SpA, psoriatic arthritis, and undifferentiated peripheral SpA, aiming to identify its prevalence, characteristics, and risk factors.
- Conducted at two rheumatology centers, the research involved 177 patients and utilized specific questionnaires to assess neuropathic pain, revealing that 22.2% likely experienced significant neuropathic pain while 64.9% showed no significant issues.
- Findings indicated that factors like gender and obesity influenced pain scores, and notable correlations were found between neuropathic pain and clinical disease activity, stressing the need for routine pain assessments in SpA treatment.
Objectives: to evaluate over a 48-month follow-up period the: 1) long-term effectiveness and safety; 2) drug retention rate (DRR); 3) impact of comorbidities and bDMARDs line on MDA and DAPSA remission/low disease activity (LDA) of secukinumab in a multicenter Italian cohort of PsA patients.
Methods: Consecutive PsA patients receiving secukinumab were followed prospectively in Italian centers between 2016 and 2023. Disease characteristics, previous/ongoing treatments, comorbidities and follow-up duration were recorded.
Article Synopsis
- TAM-family tyrosine kinases (TYRO3, AXL, and MERTK) are important in cancer research, and blocking MERTK was helpful in fighting a type of leukemia called B-ALL.
- Research showed that reducing MERTK helped increase special immune cells, which is good for fighting leukemia, especially in young patients.
- The study suggests that targeting MERTK and TYRO3 could be new ways to treat leukemia by using the body's immune system better.
Objective: The aim of the present review was to highlight gender and sex differences in spondyloarthritis (SpA) to achieve a better awareness of the unmet needs of women with SpA.
Methods: A literature search of PubMed was performed, including manuscripts in English published in the last twenty years, to select and analyze articles related to SpA and sex and gender differences in epidemiology, genetics, immunology, clinical features, and response to treatment.
Results: Women and men with SpA have different disease phenotypes, and this heterogeneity mirrors anatomical, physiological, and hormonal differences, as well as peculiar variability in response to treatment.
Objectives: Psoriatic arthritis (PsA) is an immune-inflammatory disease occurring in a subgroup of patients suffering from psoriasis. Dactylitis is recognised as a hallmark of PsA, being present in about 50% of patients. This article gives an overview of the complexity of psoriatic dactylitis, looking at clinical aspects as well as pathogenetic aspects and subsequent insights into treatment strategies.
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- Clinical remission is the main goal for managing rheumatoid arthritis (RA), but studies have found that some patients in remission still show signs of synovitis detected by ultrasound.
- The UPARAREMUS study observed the effects of upadacitinib, a selective Janus kinase 1 inhibitor, showing it resulted in significantly higher rates of remission at 24 weeks compared to other treatments like adalimumab and abatacept.
- In this study, 63.6% of patients achieved both clinical and ultrasound remission after 24 weeks, with the likelihood of achieving this higher among bio-naïve patients, indicating that the drug may be more effective in patients who haven't received prior biological treatments.
Objectives: Conflicting results about clinical and subclinical atherosclerosis in systemic sclerosis (SSc) and the associated risk factors have been reported. Hence, we aimed to determine the prevalence of clinical and subclinical atherosclerosis in a large number of Italian SSc patients and the associated risk factors.
Methods: This study included 613 SSc patients from 11 Italian tertiary Rheumatologic Units.
Objectives: This study aims to evaluate in a real-life Italian multicenter cohort of axial spondyloarthritis (axSpA) (1) the 4-year effectiveness and safety of secukinumab, (2) the drug retention rate (DRR), and (3) the impact of the line of bDMARDs treatment, subtype of axSpA, and sex on achieving low disease activity (LDA) and very low disease activity (VLDA).
Methods: Consecutive axSpA patients receiving secukinumab between 2016 and 2023 were prospectively evaluated. Data on disease characteristics, previous/ongoing treatments, comorbidities, and follow-up duration were collected.
Elevated airborne PCB levels in older schools are concerning due to their health impacts, including cancer, metabolic dysfunction-associated steatotic liver disease (MASLD), cardiovascular issues, neurodevelopmental diseases, and diabetes. During a four-week inhalation exposure to PCB52, an air pollutant commonly found in school environments, adolescent rats exhibited notable presence of PCB52 and its hydroxylated forms in their livers, alongside changes in gene expression. Female rats exhibited more pronounced changes in gene expression compared to males, particularly in fatty acid synthesis genes regulated by the transcription factor SREBP1.
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- Breast cancer is a leading cancer among women globally, and obesity is a known risk factor whose molecular mechanisms are not fully understood.
- Recent studies identified a protein, A-FABP (FABP4), that links obesity-related changes in lipid metabolism to increased breast cancer risk, suggesting it could be a target for new treatments.
- Researchers developed humanized monoclonal antibodies, particularly a variant named 12G2, which effectively reduced FABP4 levels and inhibited tumor growth in mouse models, showing promise for breast cancer therapy.
Objectives: To compare the treatment effectiveness of secukinumab in radiographic (r) versus non-radiographic (nr) axial spondyloarthritis (axSpA) patients treated in routine care across Europe.
Methods: Prospectively collected data on secukinumab-treated axSpA patients with known radiographic status were pooled from nine countries.Remission rates based on patient-reported outcomes (PROs; Numeric Rating Scale (0-10), for example, pain ≤2/Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) ≤2 and Ankylosing Spondylitis Disease Activity Score (ASDAS) inactive disease (ID) <1.
Objectives: We aimed to evaluate ixekizumab (IXE) effectiveness, drug survival and clinical response predictors in moderate-severe psoriatic arthritis (PsA) patients in different clinical scenarios.
Methods: This was a multicentre real-life observational study based on Gruppo Italiano Studio Early Arthritis (GISEA) registry of IXE treatment in PsA patients (January 2019-June 2023). Data were collected at baseline and every six months.
Introduction: Psoriatic arthritis (PsA) is an immune-inflammatory disease that affects both joints and entheses, and with diverse extra-articular manifestations (psoriasis, inflammatory bowel disease (IBD), and uveitis). A wide range of comorbid conditions, including cardiovascular diseases, obesity, metabolic syndrome (MetS), nonalcoholic fatty liver disease (NAFLD), mental health disorders (depression/anxiety), and osteoporosis are highly prevalent in course of PsA.Biological DMARDs (bDMARD), including TNF-inhibitors (TNFi), Interleukin (IL-17i) and IL-23i represent the cornerstone of the management of active disease.
View Article and Find Full Text PDFIntroduction: The Patient Acceptable Symptoms State (PASS) is a validated instrument that is used to assess whether a patient with psoriatic arthritis (PsA) accepts her/his disease status by asking them a simple question: "Think about all the ways your PsA has affected you during the last 48 h. If you were to remain in the next few months as you were during the last 48 h, would this be acceptable to you?" The aim of the present study was to explore any PASS differences in patients with PsA based on sex by looking at the corresponding thresholds of Disease Activity for Psoriatic Arthritis (DAPSA), Psoriatic Arthritis Impact of the Disease-12 (PsAID-12) and the Health Assessment Questionnaire-Disability Index (HAQ-DI) in female and male patients.
Methods: This was a cross-sectional study that included two PsA cohorts.
Emerging evidence indicates that aneurysmal subarachnoid hemorrhage (aSAH) elicits a response from both innate and adaptive immune systems. An upregulation of CD8 + CD161 + cells has been observed in the cerebrospinal fluid (CSF) after aSAH, yet the precise role of these cells in the context of aSAH is unkown. CSF samples from patients with aSAH and non-aneurysmal SAH (naSAH) were analyzed.
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- - The study explored lncRNAs (long non-coding RNAs) as potential biomarkers to predict how well Psoriatic arthritis (PsA) patients respond to treatment, focusing on their expression profiles in relation to drug effectiveness.
- - Researchers analyzed 48 treated PsA patients over 12 months and found significant differences in the expression levels of specific lncRNAs between those who responded to treatment and those who didn't, particularly for treatments with TNFi and IL17i.
- - The results suggest that the lncRNA MEG3 may be linked to treatment response and may also have a dose-dependent impact on disease activity, indicating its potential importance in tailoring treatment strategies for PsA patients.
Purpose: The clinical relevance of human leukocyte antigen (HLA) subtypes such as HLA-B51 on Behçet's disease (BD)-related uveitis and non-infectious uveitis (NIU) unrelated to BD remains largely unknown.
Methods: Data were prospectively collected from the International AIDA Network Registry for BD and for NIU. We assessed differences between groups (NIU unrelated to BD and positive for HLA-B51, BD-related uveitis positive for HLA-B51 and BD-related uveitis negative for HLA-B51) in terms of long-term ocular complications, visual acuity (VA) measured by best corrected visual acuity (BCVA), anatomical pattern, occurrence of retinal vasculitis (RV) and macular edema over time.