5 results on '"Cont, F."'
Search Results
2. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
- Author
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Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Cont, F., Merli, P., Pastore, A., Mortera, S. L., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A. C., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, Franco, Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., Tartaglia, M., Locatelli F. (ORCID:0000-0002-7976-3654), Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Cont, F., Merli, P., Pastore, A., Mortera, S. L., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A. C., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, Franco, Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., Tartaglia, M., and Locatelli F. (ORCID:0000-0002-7976-3654)
- Abstract
Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival.
- Published
- 2019
3. Fibromyalgia, mood disorders and chronic damage are the main determinants of worse quality of life in systemic lupus erythematosus patients: Results from a cross-sectional analysis.
- Author
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Ceccarelli F, Ciancarella C, Pirone C, Natalucci F, Picciariello L, Garufi C, Mancuso S, Truglia S, Spinelli FR, Alessandri C, and Cont F
- Subjects
- Humans, Cross-Sectional Studies, Female, Male, Middle Aged, Adult, Surveys and Questionnaires, Depression etiology, Anxiety etiology, Quality of Life, Lupus Erythematosus, Systemic psychology, Lupus Erythematosus, Systemic complications, Fibromyalgia psychology, Mood Disorders etiology, Severity of Illness Index
- Abstract
Objective: As suggested by the EULAR recommendations, a comprehensive management of Systemic Lupus Erythematosus (SLE) should include the evaluation of disease activity, chronic damage, and quality of life (QoL). QoL is significantly impaired in SLE patients, even in those achieving a state of remission, suggesting the possible contribution of other factors. Thus, in the present study we aimed at analyzing QoL in a large SLE cohort by using LupusQoL, and at identifying the main determinant of poorer QoL., Methods: We conducted a cross-sectional study by including consecutive SLE patients diagnosed according to the 2019 ACR/EULAR criteria. Clinical, laboratory and therapeutical data were collected. Disease activity was assessed by SLEDAI-2k, while chronic damage by the SLICC Damage Index (SDI). The diagnosis of fibromyalgia was made in accordance with the ACR criteria (2016). At the time of the enrollment, all patients completed the following questionnaires: LupusQoL to assess quality of life and hospital anxiety and depression scale (HADS) for anxiety and depression., Results: Our analysis included 237 SLE patients [92.4% female, median age 46 years (IQR 19.5), median disease duration 156.8 months (IQR 180.6)]. At the time of enrollment, we found a mean SLEDAI-2k of 1.7 (DS 2.4); 104 patients (43.9%) had chronic damage, with a mean SDI value of 0.8 (DS 1.3). Patients diagnosed with fibromyalgia were 69 (29.1%); moreover, HADS questionnaire identified a condition of anxiety and depression in 112 (47.3%) and 94 (39.7%) patients, respectively. The most compromised domain in the LupusQoL resulted "fatigue", followed by "burden to others". Patients with SDI ≥ 1 showed lower quality of life than patients without chronic damage, as demonstrated by significantly lower values in all items of the LupusQoL ( p < .01). Furthermore, significantly lower values in all the LupusQoL domains were observed in patients with fibromyalgia, anxiety and depression, in comparison to those patients without these manifestations ( p < .0001). No association was demonstrated between QoL and disease activity. Finally, the linear regression analysis confirmed mood disorders, in particular depression, and fibromyalgia as the main determinants of worse quality of life in our cohort., Conclusions: The present study demonstrated the influence of different factors in the quality of life of SLE patients. In particular, the presence of mood disorders, fibromyalgia and chronic damage resulted the main determinants of poorer QoL. This evidence reinforces the need for a comprehensive patient care., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
- Published
- 2024
- Full Text
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4. Acute Treatment of Osteochondral Detachment Following Patellar Dislocation: Clinical and Short-Term MRI Follow-Up.
- Author
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Puddu L, Lugani G, Perusi F, Brunialti D, Cont F, Ciatti C, Poleggi E, Locatelli L, Pisanu F, Doria C, Cortese F, and Caggiari G
- Abstract
Background: The aim of our study is to emphasizes the significance of prompt diagnosis and intervention in younger patients affected by osteochondral detachment after patellar dislocation, where the first objective is to minimize in the shortest possible time complications and ingravescence. The method involves a clinical patient assessment and MRI follow-up in subjects who underwent to an immediate surgical intervention for osteochondral damage., Methods: From January 2020 to December 2022, 22 patellar dislocation cases were assessed; osteochondral lesions were identified in 12 (54%) patients; nine of these patients were treated immediately with knee arthroscopy, while in seven instances the osteochondral fragment was reattached using bioabsorbable pins. Post-operative clinical evaluations were conducted at one-, three-, and six-month intervals; finally, a six-month post-operative MRI was performed for all surgically treated patients., Results: The MRI evaluations, conducted six months post-operation for all seven patients, indicated successful integration of the reattached osteochondral fragment. Every patient returned to their pre-injury activities after surgery. However, two of them reported mild pain in the anterior region of the knee post-surgery., Conclusions: in young patients, swift diagnosis and immediate surgical intervention for osteochondral detachment resulting from patellar dislocation are crucial. This approach has been identified as the best practice, since it substantially minimizes immediate functional restrictions and significantly lowers the long-term risk of femoral-patellar osteoarthritis.
- Published
- 2024
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5. Early complication of a subtrochanteric periprosthetic fracture following hip resurfacing. Is varus healing acceptable? A case report and literature review.
- Author
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Lugani G, Santandrea A, Puddu L, Rigoni M, Cont F, Magnan B, and Cortese F
- Subjects
- Fracture Fixation, Internal, Fracture Healing, Humans, Arthroplasty, Replacement, Hip adverse effects, Femoral Fractures surgery, Hip Fractures diagnostic imaging, Hip Fractures etiology, Hip Fractures surgery, Osteoarthritis, Hip diagnostic imaging, Osteoarthritis, Hip etiology, Osteoarthritis, Hip surgery, Periprosthetic Fractures diagnostic imaging, Periprosthetic Fractures etiology, Periprosthetic Fractures surgery
- Abstract
Background: The increase in the incidence of osteoarthritis of the hip (coxarthrosis) in young patients with high functionality requirements and the development of new materials in the last twenty years have resulted in an increase in the number of surgeries involving hip resurfacing procedures. There has also been an increase in associated periprosthetic fractures, which currently occur in 1%-2% of cases. According to the medical literature, fractures of this type can be treated conservatively, using reduction and synthesis or through prosthetic revision., Case Report: Patient aged 69 years who had undergone resurfacing of the right hip ten years previously, who came to our attention as a result of direct contusion trauma with x-ray evidence of a periprosthetic fracture in the subtrochanteric region. We treated the fracture by preserving the prosthesis and performing osteosynthesis using a plate and screws. After two months the synthesis was complicated by breakage of a proximal screw and varus collapse of the fracture. We treated this complication conservatively by adjusting the weight-bearing regime and administering physical and drug therapy. Six months after the fracture, despite the residual varus displacement and the less than stellar x-ray result, the clinical outcome was satisfactory. Discussion and conclusions: Treatment of periprosthetic fractures following hip resurfacing is often technically complex. The major difficulties arise from the presence of prosthetic components and the limited bone stock available. Fractures often affect the neck of the femur and the trochanteric region, and in rare cases there is involvement of the subtrochanteric region. Our review confirms this trend and raises the question as to which method of synthesis is ideal for a fracture pattern so rarely described in the literature.
- Published
- 2021
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