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2.
Int J Mol Sci ; 25(12)2024 Jun 19.
Artigo em Inglês | MEDLINE | ID: mdl-38928438

RESUMO

Anaplastic thyroid cancer (ATC) is one of the deadliest human cancers and represents <2% of thyroid carcinomas. A therapeutic target for ATC is represented by anaplastic lymphoma kinase (ALK) rearrangements, involved in tumor growth. Crizotinib is an oral small-molecule tyrosine kinase inhibitor of the ALK, MET, and ROS1 kinases, approved in ALK-positive non-small cell lung cancer. Until now, the effect of crizotinib in "primary human ATC cells" (pATCs) with transforming striatin (STRN)-ALK fusion has not been reported in the literature. In this study, we aimed to obtain pATCs with STRN-ALK in vitro and evaluate the in vitro antineoplastic action of crizotinib. Thyroid surgical samples were obtained from 12 ATC patients and 6 controls (who had undergone parathyroidectomy). A total of 10/12 pATC cultures were obtained, 2 of which with transforming STRN-ALK fusion (17%). Crizotinib inhibited proliferation, migration, and invasion and increased apoptosis in 3/10 pATC cultures (2 of which with/1 without STRN-ALK), particularly in those with STRN-ALK. Moreover, crizotinib significantly inhibited the proliferation of AF cells (a continuous cell line obtained from primary ATC cells). In conclusion, the antineoplastic activity of crizotinib has been shown in human pATCs (with STRN-ALK) in preclinical studies in vitro, opening the way to future clinical evaluation in these patients.


Assuntos
Quinase do Linfoma Anaplásico , Apoptose , Proliferação de Células , Crizotinibe , Inibidores de Proteínas Quinases , Carcinoma Anaplásico da Tireoide , Neoplasias da Glândula Tireoide , Humanos , Crizotinibe/farmacologia , Carcinoma Anaplásico da Tireoide/tratamento farmacológico , Carcinoma Anaplásico da Tireoide/patologia , Quinase do Linfoma Anaplásico/antagonistas & inibidores , Quinase do Linfoma Anaplásico/genética , Quinase do Linfoma Anaplásico/metabolismo , Proliferação de Células/efeitos dos fármacos , Inibidores de Proteínas Quinases/farmacologia , Apoptose/efeitos dos fármacos , Neoplasias da Glândula Tireoide/tratamento farmacológico , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/metabolismo , Masculino , Feminino , Antineoplásicos/farmacologia , Pessoa de Meia-Idade , Movimento Celular/efeitos dos fármacos , Idoso , Proteínas de Fusão Oncogênica/genética , Proteínas de Fusão Oncogênica/metabolismo , Células Tumorais Cultivadas , Linhagem Celular Tumoral , Proteínas de Ligação a Calmodulina , Proteínas de Membrana , Proteínas do Tecido Nervoso
3.
Healthcare (Basel) ; 12(11)2024 May 28.
Artigo em Inglês | MEDLINE | ID: mdl-38891181

RESUMO

During the COVID-19 pandemic, there have been multiple reports about an unforeseen surge in adolescents and young adults exhibiting sudden onset functional tic-like behaviors. This phenomenon has been mainly associated with the female gender and occasionally after exposure to social media content featuring similar patterns of functional tic-like behaviors. A significant portion of these individuals have been directed to specialist clinics for movement disorders with initial misdiagnoses of late-onset refractory Tourette syndrome. Distinguishing between rapid onset functional tic-like behaviors and neurodevelopmental tics as part of Tourette syndrome can be challenging; however, the differential diagnosis is facilitated by focusing on specific clinical and demographic factors, which we have explored in a systematic literature review. Compared to neurodevelopmental tics, functional tic-like behaviors typically present with a more abrupt and intense manifestation of symptoms, onset at a later age, higher prevalence among females, inability to suppress tics, coexisting anxiety and depression, and sometimes a history of exposure to social media content portraying tic-like behaviors of a similar nature. This novel manifestation of a functional neurological disorder may thus be viewed as an emerging neuropsychiatric condition potentially triggered/exacerbated by the psychosocial repercussions of the COVID-19 crisis.

4.
Front Endocrinol (Lausanne) ; 15: 1408684, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38887272

RESUMO

Cardiovascular disease (CVD) remains the leading cause of death worldwide, representing a major health issue of social and economic relevance. Both hyperthyroidism and hypothyroidism are very common in the adult population, and both disorders may contribute to the onset and progression of CVD. After a brief description of the role of thyroid hormones (THs) on the physiology of the cardiovascular system and the potential mechanism that links THs alterations with changes in cardiac function, blood pressure, endothelial function, and lipid levels, we review updated data about the clinical impact of overt hypothyroidism (OH) and subclinical hypothyroidism (SCH) on CV risk, CVD, and mortality. Furthermore, we summarize the current evidence for treating SCH with levothyroxine (L-T4). Several guidelines of distinguished endocrine societies recommend treatment for SCH with TSH higher than 10 mIU/L, where the benefit of L-T4 therapy is more evident for younger people, but still controversial in those aged over 65 years. Based on current knowledge, more research efforts are needed to better address the clinical management of CV risk and CVD in the elderly affected by SCH.


Assuntos
Doenças Cardiovasculares , Hipotireoidismo , Humanos , Hipotireoidismo/complicações , Hipotireoidismo/metabolismo , Hipotireoidismo/epidemiologia , Hipotireoidismo/fisiopatologia , Doenças Cardiovasculares/etiologia , Doenças Cardiovasculares/metabolismo , Hormônios Tireóideos/metabolismo , Hormônios Tireóideos/uso terapêutico , Tiroxina/uso terapêutico , Fatores de Risco
5.
Cancers (Basel) ; 16(11)2024 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-38893231

RESUMO

BACKGROUND AND AIMS: This paper aims to study an alternative solution to hormonal replacement therapy in specific groups of patients who underwent thyroidectomy during childhood or adulthood. After cryopreservation, thyroid autotransplantation could be an alternative solution which would allow us to use the ability of the thyroid tissue of producing hormones according to the physiological needs of the body. MATERIALS AND METHODS: A feasibility study about the effects of the most modern cryopreservation techniques on the structural and functional integrity of the follicular cells of the thyroid tissue has been carried out. Patients who could benefit from the treatment have been found for both autotransplant techniques. Additionally, a literature review has been conducted. RESULTS: The histological analysis has shown that cryopreservation does not alter the original architecture, and the culture examination that cell viability is successfully preserved. Moreover, both thyroid autotransplantation studies on animals and those on humans that were found in the literature have shown good results regarding the viability and functionality of the transplant. CONCLUSIONS: The viability of cryopreserved thyroid tissue found in this study is encouraging. Further studies to evaluate the levels of FT3, FT4 and thyroglobulin in thyroid tissue after cryopreservation are needed to verify that the secretory properties of the thyrocytes have been maintained intact. Furthermore, autotransplanted cases found in the literature do not have a long-term follow-up.

6.
Biom J ; 66(4): e2300288, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38700021

RESUMO

We introduce a new class of zero-or-one inflated power logit (IPL) regression models, which serve as a versatile tool for analyzing bounded continuous data with observations at a boundary. These models are applied to explore the effects of climate changes on the distribution of tropical tuna within the North Atlantic Ocean. Our findings suggest that our modeling approach is adequate and capable of handling the outliers in the data. It exhibited superior performance compared to rival models in both diagnostic analysis and regarding the inference robustness. We offer a user-friendly method for fitting IPL regression models in practical applications.


Assuntos
Clima Tropical , Atum , Animais , Modelos Logísticos , Oceano Atlântico , Biometria/métodos
7.
Eur Arch Otorhinolaryngol ; 281(7): 3791-3796, 2024 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-38594507

RESUMO

PURPOSE: The purpose of the present study is to analyze thyroglossal duct cyst (TGDC) histopathological features, with focus on "arborization", in a cohort of pediatric patients who underwent surgical removal, and evaluate a possible correlation with clinical recurrences. METHODS: A retrospective analysis of all patients who underwent surgical resection for TGDC at the division of Pediatric Surgery of the University of Pisa from 2015 to 2020 was performed; for each patient, the following data were recorded: age, sex, clinical presentation, localization, size of the lesion, diagnostic tools, histopathological features, perioperative complications, recurrence and follow-up. RESULTS: With respect to arborization, following histopathological analysis 25/30 patients (83.3%) presented thyroglossal duct branching. After a median follow-up of 3.5 years, only 2 out of 30 patients (6.7%), one male and one female, respectively aged 4 y.o. and 6 y.o., presented recurrence within one year from first surgery. CONCLUSION: Surgery for TGDC remains a challenge for pediatric surgeons, while arborization was present in most of our cases which underwent surgery. With respect to the role of arborization, our study did not highlight sufficient conclusive data regarding their role in recurrence: instead, it showed wide resection as satisfactory, being the arborization present in most of the cases at histopathology.


Assuntos
Cisto Tireoglosso , Humanos , Cisto Tireoglosso/cirurgia , Cisto Tireoglosso/patologia , Masculino , Feminino , Estudos Retrospectivos , Pré-Escolar , Criança , Recidiva , Resultado do Tratamento , Adolescente , Lactente , Seguimentos
8.
Front Endocrinol (Lausanne) ; 15: 1386510, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38665263

RESUMO

In hypothyroid patients needing large doses of levothyroxine (L-T4) (>1.7-2 µg/kg/day) to reach euthyroidism, lactose intolerance (LI) needs to be excluded, owing to the high prevalence in the population. If LI is present, a lactose-free diet decreases the rate of L-T4 malabsorption. However, an increased requirement of L-T4 is described in patients with LI, which can be beneficially treated using lactose-free L-T4 formulation. The lactose-free liquid L-T4 formulation is able to circumvent LI malabsorption leading to the normalization of thyroid-stimulating hormone (TSH) in patients with subclinical hypothyroidism and long-term stable TSH levels.


Assuntos
Hipotireoidismo , Intolerância à Lactose , Tiroxina , Humanos , Intolerância à Lactose/tratamento farmacológico , Tiroxina/uso terapêutico , Tiroxina/farmacocinética , Hipotireoidismo/tratamento farmacológico , Hipotireoidismo/metabolismo , Lactose , Feminino , Síndromes de Malabsorção/tratamento farmacológico , Síndromes de Malabsorção/metabolismo , Masculino , Pessoa de Meia-Idade , Tireotropina/sangue , Tireotropina/metabolismo , Adulto
10.
J Endocrinol Invest ; 2024 Apr 20.
Artigo em Inglês | MEDLINE | ID: mdl-38642306

RESUMO

BACKGROUND: CD20+ T cells represent up to 5% of circulating T lymphocytes. These cells have been shown to produce higher levels of IL-17A and IFN-γ than those of CD20- T lymphocytes. Some reports described the role of CD20+ T cells in autoimmune disorders such as multiple sclerosis and rheumatoid arthritis possibly due to their ability to produce these inflammatory cytokines. This study is aimed at describing the behavior of CD20+ T lymphocytes in the most frequent autoimmune disorder, i.e., Hashimoto's thyroiditis (HT), presenting isolated or associated to further autoaggressive disorders in a frame of poly-autoimmunity. METHODS: The study group encompasses 65 HT patients: 23 presenting in isolated form (IT) and 42 with an associated non-endocrine autoimmune disorder [16 with chronic atrophic gastritis (CAG), 15 with nonsegmental vitiligo (VIT), and 11 with celiac disease (CD)]. Twenty healthy donors act as control group (HD). Chronic use of interfering drugs, severe or chronic disorders, and pregnancy and lactation were used as exclusion criteria. Whole blood samples (100 µl) were stained with fluorescent-labeled antibodies (anti-CD45, anti-CD3, anti-CD19, anti-CD16, anti-CD56, anti-CD4, anti-CD8, anti-CD20). Red blood cells were then lysed by adding 1 ml of hypotonic buffer, and samples were acquired on a Flow Cytometer. RESULTS: CD3+CD8+CD20+ T lymphocytes' percentages, were significantly higher in the whole group of autoimmune patients compared to healthy donors (p = 0.0145). Dividing HT patients based on the type of presentation of autoimmune thyroiditis, CAG group showed the highest percentage of these cells as compared to HD and CD (p = 0.0058). IT patients showed higher percentages of CD3+ CD8+CD20+ cells than those of HD patients although not reaching statistical significance. However, dividing IT group based on thyroid function, hypothyroid patients showed higher CD8+CD20+ cell percentages than those of HD and euthyroid patients (p = 0.0111). Moreover, in IT patients, these cells were negatively correlated with FT4 levels (p = 0.0171; r = -0.4921). CONCLUSIONS: These preliminary findings indicate that CD8+CD20+ T cells are activated in patients with autoimmune thyroiditis and may behave differently according to the presence of poly-autoimmunity and hypothyroidism.

12.
Leukemia ; 38(5): 1107-1114, 2024 May.
Artigo em Inglês | MEDLINE | ID: mdl-38459167

RESUMO

Axicabtagene ciloleucel showed efficacy for relapsed/refractory large B-cell lymphomas (LBCL), including primary mediastinal B-cell lymphomas (PMBCL); however, only few PMBCLs were reported. Aim was to evaluate efficacy and safety of axicabtagene ciloleucel in patients with PMBCL compared to those with other LBCL, enrolled in the Italian prospective observational CART-SIE study. PMBCLs (n = 70) were younger, with higher percentage of bulky and refractory disease, compared to other LBCLs (n = 190). Median follow-up time for infused patients was 12.17 months (IQR 5.53,22.73). The overall (complete + partial) response rate (ORR,CR + PR) after bridging was 41% for PMBCL and 28% for other LBCL, p = 0.0102. Thirty days ORR was 78% (53/68) with 50% (34) CR in PMBCL, and 75% (141/187) with 53% (100) CR in other LBCL, p = 0.5457. Ninety days ORR was 69% (45/65) with 65% (42) CR in PMBCL, and 54% (87/162) with 47% (76) CR in other LBCL; progressive disease was 21% in PMBCL and 45% in other LBCL, p = 0.0336. Twelve months progression-free survival was 62% (95% CI: 51-75) in PMBCL versus 48% (95% CI: 41-57) in other LBCL, p = 0.0386. Twelve months overall survival was 86% (95% CI: 78-95) in PMBCL versus 71% (95% CI: 64-79) in other LBCL, p = 0.0034. All grade cytokine release syndrome was 88% (228/260); all grade neurotoxicity was 34% (88/260), with 6% of fatal events in PMBCL. Non-relapse mortality was 3%. In conclusion, PMBCLs achieved significantly better response and survival rates than other LBCLs.


Assuntos
Produtos Biológicos , Linfoma Difuso de Grandes Células B , Neoplasias do Mediastino , Humanos , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/patologia , Linfoma Difuso de Grandes Células B/mortalidade , Feminino , Masculino , Pessoa de Meia-Idade , Produtos Biológicos/uso terapêutico , Neoplasias do Mediastino/patologia , Neoplasias do Mediastino/tratamento farmacológico , Neoplasias do Mediastino/mortalidade , Adulto , Estudos Prospectivos , Itália/epidemiologia , Idoso , Imunoterapia Adotiva/métodos , Seguimentos , Taxa de Sobrevida , Antígenos CD19 , Resultado do Tratamento
13.
Acta Psychiatr Scand ; 149(3): 177-194, 2024 03.
Artigo em Inglês | MEDLINE | ID: mdl-38167781

RESUMO

BACKGROUND: A better characterization of educational processes during psychiatry training is needed, both to foster personal resilience and occupational proficiency. METHODS: An adequate coverage of medical residents at the national level was reached (41.86% of the total reference population, 29 out of 36 training centers-80.55%). Controls were recruited among residents in other medical specialties. All participants were assessed by questionnaires to evaluate early life experiences, attachment style, personality traits, coping strategies, emotional competencies. A Structural Equation Model (SEM) framework was employed to investigate the interplay between individual factors. RESULTS: A total sample of 936 people was recruited (87.9% response-rate; 645 residents in psychiatry, 291 other medical residents). Psychiatry trainees reported a higher prevalence of adverse childhood experiences (emotional abuse, emotional neglect, physical neglect), greater attachment insecurity (anxious or avoidant) in comparison to other medical trainees. Psychiatry residents also reported higher social support-seeking as a coping strategy, lower problem-orientation, and lower transcendence. Lower neuroticism, higher openness to experience, and higher emotional awareness were also observed in psychiatry trainees. Psychiatry training was associated with a redefinition of conflict management skills as a function of seniority. The SEM model provided support for an interplay between early traumatic experiences, mentalization skills (coping strategies, emotion regulation), interpersonal competencies and occupational distress. CONCLUSIONS: The findings of the present study supported a theoretical model based on mentalization theory for the interactions between personal and relational competencies in psychiatry training, thus providing potential target of remodulation and redefinition of this specific process of education.


Assuntos
Esgotamento Profissional , Internato e Residência , Mentalização , Psiquiatria , Humanos , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/psicologia , Inquéritos e Questionários , Neuroticismo
14.
Int J Soc Psychiatry ; 70(1): 23-35, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37638668

RESUMO

BACKGROUND: Research suggests that microaggressions detrimentally impact the mental health of members of marginalized social groups. AIMS: The aim of this systematic review was to assess the exposure to microaggressions and related implications on mental health of Lesbian, Gay, Bisexual, Transgender, Intersex, and Queer (LGBTIQ) people. METHOD: Medline, Scopus, PsycINFO, CINAHL, and EMBASE were searched until January 2023. Studies reporting data on the exposure to microaggressions toward LGBTIQ people were identified. Meta-analyses of rates of exposure to microaggression and of the association between microaggressions and mental health outcomes were based on odds ratio (OR) and standardized mean difference (SMD) with 95% confidence intervals (95% CI), estimated through inverse variance models with random effects. RESULTS: The review process led to the selection of 17 studies, involving a total of 9036 LGBTIQ people, of which 6827 identifying as cisgenders, and 492 as heterosexuals, were included in the quantitative synthesis. Overall, LGBTIQ people showed an increased risk of microaggression (SMD: 0.89; 95% CI [0.28, 1.50]), with Transgender people having the highest risk (OR: 10.0; 95% CI [3.08, 32.4]). Microaggression resulted associated with risk of depression (SMD: 0.21; 95% CI [0.05, 0.37]), anxiety (SMD: 0.29; 95% CI [0.17, 0.40]), suicide attempts (OR: 1.13; 95% CI [1.08, 1.18]), alcohol abuse (OR: 1.32; 95% CI [1.13, 1.54]), but not to suicidal ideation (OR: 1.56; 95% CI [0.64, 3.81]) and cannabis abuse (OR: 1.44; 95% CI [0.82, 2.55]). The quality of the evidence was limited by the small number of studies. CONCLUSIONS: LGBTIQ people are at higher risk of microaggressions compared with their cisgender/heterosexual peers, which may lead to mental health consequences. This evidence may contribute to public awareness of LGBTIQ mental health needs and suggest supportive strategies as well as preventive interventions (e.g., supportive programs and destigmatizing efforts) as parts of tailored health-care planning aimed to reduce psychiatric morbidity in this population.


Assuntos
Minorias Sexuais e de Gênero , Pessoas Transgênero , Feminino , Humanos , Saúde Mental , Microagressão , Ansiedade
15.
Curr Oncol ; 30(12): 10237-10248, 2023 11 30.
Artigo em Inglês | MEDLINE | ID: mdl-38132379

RESUMO

BACKGROUND: Papillary thyroid carcinoma (PTC) is the most common type of differentiated TC, while medullary TC (MTC) accounts for 4%. The concomitant presence of PTC and MTC is rare. METHODS: This is a retrospective, single-center observational study conducted over 16 years (2001-2017). The data were collected from the clinical records of patients who underwent total thyroidectomy at the Endocrine Unit-Department of Medicine of the University Hospital of Pisa, Italy. RESULTS: Over 690 analyzed cases, 650 (94.2%) were exclusive DTC, 19 exclusive MTC (2.75%) and 5 PTC/MTC (0.7%). No case of mixed medullary/follicular TC or hereditary MTC (familial MTC/multiple endocrine neoplasia type 2) was found. Among the five PTC/MTC cases, there was a male prevalence (M:F = 3:2), and all PTC components were at stage I, whereas 40% of MTC were at stage I and III and 20% of MTC were at stage II; microPTC (mPTC) was prevalent (80%) and also microMTCs were frequent (40%); 60% of MTC patients recovered, while 40% of patients developed metastatic disease. The search for germline mutations of the RET gene resulted in being negative in all cases. CONCLUSIONS: The incidence of PTC/MTC has been increasing over the past 30 years. The etiology of PTC/MTC forms is still unknown, and although this simultaneous occurrence could be only a coincidence, we cannot exclude the hypothesis of a shared genetic origin.


Assuntos
Carcinoma Medular , Carcinoma Papilar , Neoplasias da Glândula Tireoide , Humanos , Masculino , Carcinoma Papilar/genética , Carcinoma Papilar/cirurgia , Carcinoma Papilar/patologia , Estudos Observacionais como Assunto , Proteínas Proto-Oncogênicas c-ret/genética , Estudos Retrospectivos , Câncer Papilífero da Tireoide/genética , Câncer Papilífero da Tireoide/cirurgia , Neoplasias da Glândula Tireoide/genética , Neoplasias da Glândula Tireoide/cirurgia , Neoplasias da Glândula Tireoide/patologia , Feminino
16.
Patient Prefer Adherence ; 17: 3403-3420, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38111689

RESUMO

Purpose: We evaluated the differences between demographic (age, sex, nationality, employment, housing, schooling, support administrator), clinical (hospitalization reason, aggressive behaviour, length of hospitalization, psychiatric diagnosis and comorbidities, psychiatric medications, discharge destination, "revolving door" hospitalizations) and environmental (pre-and pandemic period) variables in voluntary (VHs) and involuntary hospitalizations (IHs) in an acute psychiatric ward during a 6-year period. Patients and Methods: We retrospectively collected the selected variables concerning the hospitalizations of subjects over 18 years of age in the Service for Psychiatric Diagnosis and Care of Mental Health and Drug Abuse Department in Modena from 01/01/2017 to 31/12/2022. Results: We observed a progressive and sharp reduction in the number of VHs (n = 1800; 61.41%) during the pandemic and a stability of IHs (n = 1131; 38.59%), which in 2022 became prevalent. We highlighted the following differences between VHs and IHs: an increase in hospitalization length in IHs (14.25 mean days ± 15.89 SD) in comparison with VHs (8.78 mean days ± 13.88 SD), which increased more during the pandemic; an increase in aggressive behavior in IHs, especially during the pandemic (Pearson Chi2 = 90.80; p = 0.000); a prevalence of schizophrenia and bipolar disorders (Pearson Chi2 = 283.63; p = 0.000) and more frequent maladaptive social conditions among subjects in IHs. Conclusion: During the 6-year observation period, we underscored a trend of increasingly reduced recourse to VHs, whereas IHs increased even in the pandemic. Our results suggest that IHs in Psychiatry represented an extreme measure for treating the most severe psychopathological situations such as schizophrenia and bipolar disorders, characterized by aggressive behaviour and precarious social conditions, which needed longer stay than VHs, especially during the pandemic.

17.
Qual Health Res ; : 10497323231216346, 2023 Nov 30.
Artigo em Inglês | MEDLINE | ID: mdl-38031806

RESUMO

Functional Neurological Disorders are characterized by sensory-motor or cognitive symptoms. Recent research has revealed their complex nature involving biological, psychological, and social factors. Care requires a multidisciplinary approach, which, to date, has yet to be considered. A Constructivist Grounded Theory study was conducted to understand the reasons behind this, exploring Functional Neurological Disorders diagnosis, communication, and understanding from multiple perspectives (patients and healthcare professionals). The core category was "negotiating Functional Neurological Disorders meanings and care amid a dissatisfying dichotomy," with sub-categories: i) seeking to "word" the disease, ii) exposing reductionism, and iii) a pluralist vision emerging. Diagnosing and communicating Functional Neurological Disorders is a process of negotiating meanings and care that hinges on participants' diverse ontological perspectives regarding the condition. Results highlight the difficulty in finding common ground and achieving mutual understanding among the various viewpoints, creating a challenge in establishing a unified approach to Functional Neurological Disorders care. In this context, only a few healthcare professionals emphasized the potential benefits of increased integration. A shift is required from a reductionist to an integrated biopsychosocial perspective to develop a more cohesive approach. Defining a medical paradigm through dialogue with teams and patients is essential in addressing Functional Neurological Disorders effectively. Furthermore, the required interdisciplinary approach holds the potential to mitigate the dissatisfaction arising from fragmented and compartmentalized care (the "dissatisfying dichotomy") experienced by our participants. It signifies a comprehensive strategy that could address the concerns of all involved parties and enhance the overall quality of care provided.

18.
Artigo em Inglês | MEDLINE | ID: mdl-37986268

RESUMO

BACKGROUND: DiGeorge-like syndrome (DGLS) is a rare genetic disorder due to the presence of the same classical clinical manifestations of DiGeorge syndrome (DGS) without its typical deletion. In the DGLS phenotype, hypoparathyroidism seldom occurs and is considered rare. In DGS, hypocalcemia affects up to 70% of patients, and a considerable share often has asymptomatic thyroid abnormalities. CASE DESCRIPTION: In this study, we describe an unusual case of a 16-year-old patient with DGLS due to a duplication of 365 kb in the 20p11.22 region, affected by hypoparathyroidism associated with thyroid nodule. The intraoperative parathyroid evaluation ruled out agenesis as a cause of hypoparathyroidism. In addition, we carried out a thorough literature review from 2010 to 2023 of DGLS cases using specific keywords, such as "22q11.2 deletion syndrome", "DiGeorge-like Syndrome", "hypoparathyroidism", "thyroid", and "children", analyzing 119 patients with DGLS. CONCLUSION: Interestingly enough, the present case represents, to our knowledge, the first report of a patient with DGLS associated with hypoparathyroidism and the presence of thyroid nodules where an intraoperative observation reported a non-functional parathyroid gland.

19.
J Transl Autoimmun ; 7: 100212, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37854035

RESUMO

Introduction: The impact of COVID-19 pandemic represents a serious challenge for 'frail' patients' populations with inflammatory autoimmune systemic diseases such as systemic sclerosis (SSc). We investigated the prevalence and severity of COVID-19, as well the effects of COVID-19 vaccination campaign in a large series of SSc patients followed for the entire period (first 38 months) of pandemic. Patients and method: This prospective survey study included 1755 unselected SSc patients (186 M, 1,569F; mean age 58.7 ± 13.4SD years, mean disease duration 8.8 ± 7.3SD years) recruited in part by telephone survey at 37 referral centers from February 2020 to April 2023. The following parameters were carefully evaluated: i. demographic, clinical, serological, and therapeutical features; ii. prevalence and severity of COVID-19; and iii. safety, immunogenicity, and efficacy of COVID-19 vaccines. Results: The prevalence of COVID-19 recorded during the whole pandemic was significantly higher compared to Italian general population (47.3 % vs 43.3 %, p < 0.000), as well the COVID-19-related mortality (1.91 % vs 0.72 %, p < 0.001). As regards the putative prognostic factors of worse outcome, COVID-19 positive patients with SSc-related interstitial lung involvement showed significantly higher percentage of COVID-19-related hospitalization compared to those without (5.85 % vs 1.73 %; p < 0.0001), as well as of mortality rate (2.01 % vs 0.4 %; p = 0.002). Over half of patients (56.3 %) received the first two plus one booster dose of vaccine; while a fourth dose was administered to 35.6 %, and only few of them (1.99 %) had five or more doses of vaccine. Of note, an impaired seroconversion was recorded in 25.6 % of individuals after the first 2 doses of vaccine, and in 8.4 % of patients also after the booster dose. Furthermore, the absence of T-cell immunoreactivity was observed in 3/7 patients tested by QuantiFERON® SARSCoV-2 Starter Set (Qiagen). The efficacy of vaccines, evaluated by comparing the COVID-19-related death rate recorded during pre- and post-vaccination pandemic periods, revealed a quite stable outcome in SSc patients (death rate from 2.54 % to 1.76 %; p = ns), despite the significant drop of mortality observed in the Italian general population (from 2.95 % to 0.29 %; p < 0.0001). Conclusions: An increased COVID-19 prevalence and mortality rate was recorded in SSc patients; moreover, the efficacy of vaccines in term of improved outcomes was less evident in SSc compared to Italian general population. This discrepancy might be explained by concomitant adverse prognostic factors: increased rate of non-responders to vaccine in SSc series, low percentage of individuals with four or more doses of vaccine, ongoing immunomodulating treatments, disease-related interstitial lung disease, and/or reduced preventive measures in the second half of pandemic. A careful monitoring of response to COVID-19 vaccines together with adequate preventive/therapeutical strategies are highly recommendable in the near course of pandemic in this frail patients' population.

20.
J Clin Med ; 12(19)2023 Oct 05.
Artigo em Inglês | MEDLINE | ID: mdl-37835009

RESUMO

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the etiological culprit of COronaVIrus Disease 19 (COVID-19), can enter the cells via the angiotensin-converting enzyme 2 (ACE2) receptor, which has been found in several tissues including in endocrine organs, such as the ovaries, testes, pancreas, and thyroid. Several thyroid disorders have been associated with SARS-CoV-2 infection [subacute thyroiditis (SAT), thyrotoxicosis, and non-thyroidal illness syndrome (NTIS)] and, in part, they are believed to be secondary to the local virus replication within the gland cells. However, as documented for other viruses, SARS-CoV-2 seems to interfere with several aspects of the immune system, inducing the synthesis of autoantibodies and triggering latent or new onset autoimmune disease (AID), including autoimmune thyroid disease (AITD), such as Hashimoto Thyroiditis (HT) and Graves' disease (GD). Several mechanisms have been hypothesized to explain this induction of autoimmunity by SARS-CoV-2 infection: the immune system hyper-stimulation, the molecular mimicry between the self-antigens of the host and the virus, neutrophils extracellular traps, and finally, the virus induced transcriptional changes in the immune genes; nonetheless, more evidence is needed especially from large, long-term cohort studies involving COVID-19 patients, to establish or reject this pathogenetic relationship.

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