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1.
J Med Case Rep ; 15(1): 488, 2021 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-34602094

RESUMO

BACKGROUND: Melkersson-Rosenthal syndrome is a rare disease characterized by the triad of recurrent orofacial swelling with facial paralysis and fissured dorsal tongue. Histologically, noncaseating granulomatous inflammation occurs that confirms the diagnosis. Overlaps between granulomatous diseases such as sarcoidosis and Crohn's disease are described. Systemic corticosteroid therapy is the treatment of choice for acute attacks. CASE PRESENTATION: We here present a case of a 59-year-old White woman suffering from Melkersson-Rosenthal syndrome with a past history of sarcoidosis on therapy with leflunomide in combination with low-dose tacrolimus successfully treated with the anti-leprosy drug clofazimine after failure of systemic steroid therapy. CONCLUSIONS: We propose clofazimine as an alternative treatment in steroid-refractory cases.


Assuntos
Doença de Crohn , Paralisia Facial , Síndrome de Melkersson-Rosenthal , Sarcoidose , Terapia Comportamental , Feminino , Humanos , Síndrome de Melkersson-Rosenthal/complicações , Síndrome de Melkersson-Rosenthal/diagnóstico , Síndrome de Melkersson-Rosenthal/tratamento farmacológico , Pessoa de Meia-Idade , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
2.
Cesk Slov Oftalmol ; 77(4): 163-168, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34507492

RESUMO

Immune mediated inflammatory diseases are categorized into autoimmune and autoinflammatory. Autoimmune etiology is represented by autoreactive lymphocytes or autoantibodies, e.g. primary Sjögrens syndrome or rheumatoid arthritis. Ocular specific diseases with presumed autoimmune origin are sympathetic ophthalmia or birdshot chorioretinopathy. Autoinflammatory diseases are caused by mutations in regulatory genes for specific immunity. Hereditary periodic fevers represent monogenic autoinflammatory diseases; eye specific is Blau syndrome also named sarcoidosis with early onset. This article reviews the actual knowledge about immune mediated uveitides, their immunological mechanisms and the possible trigger role of infection in autoimmune inflammation. Immune privilege provides a protection of the eye against any strong immune reaction to foreign antigen, based on physical, immune, humoral and molecular mechanisms. Antigens hidden within the eye are revealed in case of damage of hematoretinal barrier caused by infection or mechanical insult. These ocular antigens have not been set as tolerable during the development and immune reaction is initiated subsequently. Current studies demonstrate that uveogenic trigger might be generated by own microbiome, particularly when dysregulated, so called dysbiosis. There is a known association between idiopathic inflammatory bowel disease with ankylosing spondylitis and anterior uveitis in humans. Intensive research is focused on microbiome and immune mediated inflammatory disease to influence therapeutically the intestinal microbiome. The animal models are used to study the immunopathological mechanisms of uveitis and the new therapeutic strategies, because of relatively low incidence of immune mediated uveitis in humans.


Assuntos
Oftalmia Simpática , Sarcoidose , Sinovite , Uveíte , Animais , Humanos , Inflamação , Uveíte/etiologia
3.
Orv Hetil ; 162(38): 1541-1547, 2021 09 19.
Artigo em Húngaro | MEDLINE | ID: mdl-34537719

RESUMO

Összefoglaló. A nekrotizáló sarcoid granulomatosis a granulomatosus pulmonalis angitisek közé tartozó, ritka kórkép. Egyesek a sarcoidosis variánsának, mások primer pulmonalis vasculitisnek tartják. A kórkép klinikai és patológiai jellegzetességeit két eset bemutatásával ismertetjük. A 20 éves nobeteg sürgosséggel került pulmonológiai osztályra száraz köhögés, jobb oldali, mély belégzéssel összefüggo mellkasi fájdalom és láz miatt, a 63 éves férfi beteget pedig pneumoniát követo kontroll-mellkasröntgenfelvételen látott elváltozás kivizsgálása során észlelték. Az autoimmun panel vizsgálata, a mikrobiológiai tesztek mindkét betegnél negatívnak bizonyultak, a légzésfunkciós vizsgálat és a bronchoszkópos vizsgálat nem talált eltérést. A mellkas-CT-felvételen lágyrész-denzitású nodulusok látszottak egyoldali dominanciával, a folyamatot nem kísérte a hilusi nyirokcsomók szimmetrikus megnagyobbodása. A nodulusok szövettani vizsgálata vált indokolttá, melyet videoasszisztált torakoszkópos tüdoreszekciós mintavétellel biztosítottak. Mikroszkóposan a tüdoparenchymában gócos nekrózisokat, a környezetükben el nem sajtosodó epitheloid sejtes granulomatosus gócokat, az átfutó artériákban pedig granulomatosus arteritist láttak; a klinikai adatok figyelembevételével a tüdo nekrotizáló sarcoid granulomatosisa diagnózisát állították fel. A tüdobetegség mindkét betegnél egy év alatt spontán regrediált. Az irodalom adatait és az eseteket összegezve, a tüdo nekrotizáló sarcoid granulomatosisában mikrobiológiai vizsgálatokkal nem igazolható tüdofertozés, és az immunológiai kivizsgálás sem tár fel szisztémás autoimmun betegséget; a diagnózis a klinikai kép és a képalkotó vizsgálatok alapján indikált szövettani vizsgálattal állítható fel. A betegség szteroidkezelésre jól reagál, de elofordul spontán regresszió is, az utóbbira láttunk példát. Bár az entitás átmenetet képez a nekrotizáló vasculitisek és a sarcoidosis között, egyre több érv szól amellett, hogy a sarcoidosis spektrumába tartozik. Orv Hetil. 2021; 162(38): 1541-1547. Summary. Necrotizing sarcoid granulomatosis is a rare entity currently classified as a subtype of granulomatous pulmonary angiitis. It is considered to be either a variant of sarcoidosis or a primary pulmonary angiitis. Two cases are demonstrated to present its clinical and pathological features. A 20-year-old female patient was admitted to the department of pulmonology with dry cough, right-sided chest pain during hyperventilation and fever. A 63-year-old male patient was observed with a right-sided lesion on chest X-ray after pneumonia. In both cases, autoimmune panel examination, microbiology tests, spirometry function test and bronchoscopy were unremarkable. Chest CT scans have revealed nodules with soft-tissue density without bilateral hilar lymphadenopathy. In order to clarify the diagnosis, video-assisted thoracoscopic resection (biopsy) was performed. Microscopically, parenchymal focal necrosis with adjacent to non-caseating granulomas and granulomatous angiitis were detected. In both cases, spontaneous remission occurred within a year. Histological examination - integrated with clinical data and radiological tests' results - is the gold standard form of evaluation to confirm necrotizing sarcoid granulomatosis; furthermore, exclusion of pneumonia and autoimmune diseases are also required. The disease responds well to corticosteroids; moreover, spontaneous remission is often reported, as it happened in both cases. Necrotizing sarcoid granulomatosis is a transition between necrotizing vasculitides and sarcoidosis; although more and more evidence appears supporting the fact that necrotizing sarcoid granulomatosis may belong to the spectrum of sarcoidosis. Orv Hetil. 2021; 162(38): 1541-1547.


Assuntos
Sarcoidose , Adulto , Feminino , Febre , Humanos , Masculino , Pessoa de Meia-Idade , Tomografia Computadorizada por Raios X , Adulto Jovem
4.
Am J Case Rep ; 22: e932494, 2021 Sep 23.
Artigo em Inglês | MEDLINE | ID: mdl-34552042

RESUMO

BACKGROUND Sarcoidosis is a multisystem granulomatous disease with predominant pulmonary involvement and rare gastrointestinal (GI) involvement. The stomach is the most common site when there is GI involvement. Symptomatic gastric sarcoidosis with biopsy-proven disease has rarely been reported and much of the knowledge is from case reports involving white patients. CASE REPORT Our unique case involves a flare of gastric sarcoid in an African American patient with biopsy-proven disease and we highlight our unique broad, multidisciplinary treatment approach that has not been described previously. A 68-year-old woman with pulmonary sarcoidosis presented with epigastric pain, nausea, vomiting, and dysphagia. The diagnosis of gastric sarcoid was made several years prior based on an upper endoscopy biopsy showing non-caseating granulomas in the antrum. She had previously experienced minimal relief of gastric symptoms with corticosteroids. In addition to a steroid taper, the patient experienced improvement in symptoms with a PPI (proton pump inhibitor), bowel regimen, and speech therapy techniques. CONCLUSIONS Gastric symptoms can be a presenting sign for a sarcoid flare in a patient with pulmonary sarcoidosis, which is important for both pulmonologists and gastroenterologists to recognize. In addition to traditional therapy with corticosteroids, our unique broader, multidisciplinary approach with PPI, bowel regimen, and speech therapy techniques such as a liquid wash are important components of treatment for gastric sarcoid that have not been described in previous case reports.


Assuntos
Sarcoidose , Gastropatias , Dor Abdominal , Idoso , Biópsia , Feminino , Humanos , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
5.
BMJ Case Rep ; 14(9)2021 Sep 06.
Artigo em Inglês | MEDLINE | ID: mdl-34489256

RESUMO

An 82-year-old woman admitted following a 4-week history of feeling unwell, abdominal pain and constipation. Initial investigations revealed severe hypercalcaemia with suppressed parathyroid hormone and elevated 1,25-dihydroxycholecalciferol. ACE was also raised. CT scans of the head, chest, abdomen and pelvis were normal. Fluorodeoxyglucose-positron emission tomography scan showed metabolically active right axillary lymphadenopathy which when biopsied under ultrasound guidance confirmed sarcoidosis. The patient was started on high-dose prednisolone with resolution of symptoms within 2 weeks. Isolated lymph node sarcoidosis is uncommon, and the reported usual sites are lymph nodes in the head and neck. Rarely has it been reported in the axillary lymph nodes.


Assuntos
Sarcoidose , Idoso de 80 Anos ou mais , Axila , Diagnóstico Diferencial , Feminino , Fluordesoxiglucose F18 , Humanos , Linfonodos/diagnóstico por imagem , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
7.
Acta Clin Croat ; 60(1): 131-135, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-34588733

RESUMO

Approximately 5% to 15% of patients with systemic sarcoidosis develop neurological complications. However, the actual prevalence of subclinical disease may be higher. Symptoms are not specific, and may resemble those of other neurological diseases. Hydrocephalus occurs in 6% of patients with neurosarcoidosis. Acute hydrocephalus is extremely rare and when it occurs, it is usually difficult to diagnose, thus leading to possible complications. We present a patient who developed acute hydrocephalus due to neurosarcoidosis, for which he had to be operated on; soon after the operation, cranial infection developed that required definitive drainage system and ventriculoperitoneal shunt had to be implanted. In further complicated clinical course, after four years on corticosteroid therapy (corticosteroid dependent sarcoidosis), he had to be urgently operated on because of significant ventricular catheter adhesions, but several days after the operation he died in coma because of progressive brain edema not responding to treatment. As hydrocephalus due to neurosarcoidosis has high morbidity and mortality, early diagnosis and proper treatment are of utmost importance.


Assuntos
Doenças do Sistema Nervoso Central , Hidrocefalia , Sarcoidose , Doenças do Sistema Nervoso Central/complicações , Doenças do Sistema Nervoso Central/diagnóstico , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Masculino , Sarcoidose/complicações , Sarcoidose/diagnóstico , Crânio
8.
BMJ Case Rep ; 14(9)2021 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-34493554

RESUMO

We report the case of a 29-year-old man who presented with progressive weight loss, night sweats, abdominal pain and pruritus who was found to have obstructive jaundice and cholestatic pattern of liver injury on laboratory workup. Though findings on magnetic resonance cholangiopancreatography were initially concerning primary sclerosing cholangitis, he was ultimately diagnosed with biliary sarcoidosis after a liver biopsy. This case brings attention to the rare phenomenon of hepatic sarcoidosis causing hyperbilirubinemia and highlights the importance of reaching the correct diagnosis early, as the patient's symptoms improved after initiation of steroids.


Assuntos
Colangite Esclerosante , Colestase , Icterícia Obstrutiva , Sarcoidose , Adulto , Colangiopancreatografia por Ressonância Magnética , Colangite Esclerosante/diagnóstico , Colangite Esclerosante/tratamento farmacológico , Humanos , Masculino , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
9.
Int Heart J ; 62(5): 1176-1181, 2021 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-34544983

RESUMO

Sarcoidosis is a systemic inflammatory disease characterized by the formation of noncaseating epithelioid granulomas. Multiple organs, including the lung, eyes, and skin, are involved in this disorder, and cardiac involvement is a major cause of morbidity and mortality in patients with this disorder. We present the case history of a 22-year-old man with neurosarcoidosis complicated by abrupt onset of cardiac tamponade. Cardiac tamponade is a rare but potentially fatal manifestation of sarcoidosis, which is treatable with glucocorticoid therapy. Including the present case, previously reported cases of sarcoidosis with cardiac tamponade are reviewed to delineate its clinical characteristics.


Assuntos
Tamponamento Cardíaco/etiologia , Doenças do Sistema Nervoso Central/complicações , Derrame Pericárdico/cirurgia , Pericardiocentese/métodos , Sarcoidose/complicações , Bloqueio de Ramo/diagnóstico , Bloqueio de Ramo/etiologia , Tamponamento Cardíaco/diagnóstico , Doenças do Sistema Nervoso Central/tratamento farmacológico , Doenças do Sistema Nervoso Central/patologia , Dispneia/diagnóstico , Dispneia/etiologia , Eletrocardiografia/métodos , Humanos , Masculino , Limitação da Mobilidade , Doenças Musculares/etiologia , Derrame Pericárdico/diagnóstico , Derrame Pericárdico/etiologia , Prednisolona/administração & dosagem , Prednisolona/uso terapêutico , Sarcoidose/tratamento farmacológico , Sarcoidose/patologia , Esteroides/administração & dosagem , Esteroides/uso terapêutico , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento , Adulto Jovem
10.
Int Heart J ; 62(5): 1096-1105, 2021 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-34544982

RESUMO

While cardiac imaging has improved the diagnosis and risk assessment for cardiac sarcoidosis (CS), treatment regimens have consisted of generalized heart failure therapies and non-specific anti-inflammatory regimens. The overall goal of this study was to perform high-sensitivity plasma profiling of specific inflammatory pathways in patients with sarcoidosis and with CS.Specific inflammatory/proteolytic cascades were upregulated in sarcoidosis patients, and certain profiles emerged for CS patients.Plasma samples were collected from patients with biopsy-confirmed sarcoidosis undergoing F-18 fluorodeoxyglucose positron emission tomography (n = 47) and compared to those of referent control subjects (n = 6). Using a high-sensitivity, automated multiplex array, cytokines, soluble cytokine receptor profiles (an index of cytokine activation), as well as matrix metalloproteinase (MMP), and endogenous MMP inhibitors (TIMPs) were examined.The plasma tumor necrosis factor (TNF) and soluble TNF receptors sCD30 and sTNFRI were increased using sarcoidosis, and sTNFRII increased in CS patients (n = 18). The soluble interleukin sIL-2R and vascular endothelial growth factor receptors (sVEGFR2 and sVEGFR3) increased to the greatest degree in CS patients. When computed as a function of referent control values, the majority of soluble cytokine receptors increased in both sarcoidosis and CS groups. Plasma MMP-9 levels increased in sarcoidosis but not in the CS subset. Plasma TIMP levels declined in both groups.The findings from this study were the identification of increased activation of a cluster of soluble cytokine receptors, which augment not only inflammatory cell maturation but also transmigration in patients with sarcoidosis and patients with cardiac involvement.


Assuntos
Citocinas/metabolismo , Cardiopatias/diagnóstico , Tomografia por Emissão de Pósitrons/métodos , Sarcoidose/diagnóstico , Idoso , Biomarcadores/metabolismo , Estudos de Casos e Controles , Estudos de Avaliação como Assunto , Feminino , Fluordesoxiglucose F18/administração & dosagem , Cardiopatias/sangue , Cardiopatias/complicações , Cardiopatias/patologia , Humanos , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Inflamação/metabolismo , Masculino , Inibidores de Metaloproteinases de Matriz/metabolismo , Metaloproteinases da Matriz/metabolismo , Pessoa de Meia-Idade , Estudos Prospectivos , Compostos Radiofarmacêuticos/administração & dosagem , Receptores de Interleucina-2/metabolismo , Receptores do Fator de Necrose Tumoral/sangue , Medição de Risco , Sarcoidose/sangue , Sarcoidose/complicações , Sarcoidose/patologia , Índice de Gravidade de Doença , Fator de Necrose Tumoral alfa/sangue , Fator A de Crescimento do Endotélio Vascular/metabolismo
11.
BMJ Case Rep ; 14(9)2021 Sep 20.
Artigo em Inglês | MEDLINE | ID: mdl-34544697

RESUMO

A 66-year-old woman presented to us with features of encephalopathy with asterixis, preceded by unsteadiness of gait and behavioural abnormalities. On subsequent investigations, hypercalcaemic crisis and compromised renal function were noted. Stepwise approach to determine the cause behind hypercalcaemia with compromised renal function revealed underlying granulomatous disease (sarcoidosis). Later, development of maculopapular rash and subsequent biopsy from the lesion confirmed the diagnosis of sarcoidosis. Her clinical and biochemical parameters improved considerably on initiation of conservative pharmacological therapy.


Assuntos
Encefalopatias , Hipercalcemia , Sarcoidose , Idoso , Biópsia , Encefalopatias/diagnóstico , Encefalopatias/tratamento farmacológico , Encefalopatias/etiologia , Feminino , Granuloma , Humanos , Hipercalcemia/etiologia , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
12.
Orphanet J Rare Dis ; 16(1): 405, 2021 09 29.
Artigo em Inglês | MEDLINE | ID: mdl-34587975

RESUMO

BACKGROUND: Sarcoidosis is a systemic granulomatous disease affecting different organs including the heart. Myocardial strain analysis could potentially detect the early stages of cardiac dysfunction in sarcoidosis patients. The present study aims to assess the use of cardiac magnetic resonance (CMR) strain analysis using feature tracking (FT) in the detection of early cardiac involvement in asymptomatic patients with sarcoidosis. METHODS: One hundred and thirteen CMR studies of patients with sarcoidosis of the respiratory tract and/or extrapulmonary sarcoidosis without pre-existing known cardiovascular disease were included in the study and analysed using FT and compared to 22 age and gender-matched controls. Global longitudinal strain (GLS), global circumferential strain (GCS) and global radial strain (GRS) of the left ventricle (LV) were measured. RESULTS: The sarcoidosis patients did not significantly differ from the controls in basic demographic data and had normal global and regional systolic LV function-LV ejection fraction (EF) 66 ± 7% vs 65 ± 5% in the controls (p = NS). No statistically significant differences were found in all strain parameters between patients and controls: GLS (- 13.9 ± 3.1 vs. - 14.2 ± 2.5), GCS (- 23.4 ± 4.0 vs. - 22.2 ± 2.9) and GRS (53.4 ± 13.5 vs. 51.2 ± 13.6%) (p = NS). CONCLUSION: Patients with sarcoidosis of the respiratory tract and/or extrapulmonary sarcoidosis had normal myocardial deformation measured by CMR-FT derived global strain.


Assuntos
Ventrículos do Coração , Sarcoidose , Ventrículos do Coração/diagnóstico por imagem , Humanos , Imagem Cinética por Ressonância Magnética , Sistema Respiratório , Sarcoidose/diagnóstico por imagem , Função Ventricular Esquerda
14.
Radiol Clin North Am ; 59(5): 835-852, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34392922

RESUMO

Cardiovascular disease is the leading cause of death worldwide. Given the increased availability of radiopharmaceuticals, improved positron emission tomography (PET) camera systems and proven higher diagnostic accuracy, PET is increasingly utilized in the management of various cardiovascular diseases. PET has high temporal and spatial resolution, when compared to Single Photon Emission Computed Tomography. In clinical practice, hybrid imaging with sequential PET and Computed Tomography acquisitions (PET/CT) or concurrent PET and Magnetic Resonance Imaging are standard. This article will review applications of cardiovascular PET/CT including myocardial perfusion, viability, cardiac sarcoidosis/inflammation, and infection.


Assuntos
Doenças Cardiovasculares/diagnóstico por imagem , Imagem de Perfusão do Miocárdio/tendências , Tomografia por Emissão de Pósitrons/tendências , Cardiomiopatias/diagnóstico por imagem , Fluordesoxiglucose F18 , Humanos , Miocardite/diagnóstico por imagem , Compostos Radiofarmacêuticos , Sarcoidose/diagnóstico por imagem
15.
Curr Probl Cardiol ; 46(10): 100936, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-34400001

RESUMO

Cardiac sarcoidosis (CS) with clinical manifestation occurs in about 5-8% of patients with sarcoidosis. CS may be clinically suspected by the presence of ventricular arrhythmia, conduction abnormalities, and heart failure (HF). However, 20%-25% of patients may present with silent CS, having asymptomatic cardiac involvement. The diagnosis of CS is based on findings from nuclear studies, cardiac magnetic resonance, and extra-cardiac tissue biopsy. Due to the inflammatory nature of the disease, immunosuppressive medications are a cornerstone of therapy. The treatment also includes recommended HF medical therapies. Since CS patients are at risk of sudden cardiac death resulting from progression of cardiac dysfunction or the presence of scar originating from fatal arrhythmias, implantable cardioverter-defibrillators should be considered, with special indication beyond accepted recommendations in HF. In CS, the extent of left ventricular dysfunction is the most important mortality predictor. Heart transplant or mechanical circulatory support may represent life saving strategies in selective CS patients.


Assuntos
Cardiomiopatias , Desfibriladores Implantáveis , Sarcoidose , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/etiologia , Arritmias Cardíacas/terapia , Cardiomiopatias/diagnóstico , Cardiomiopatias/terapia , Morte Súbita Cardíaca , Humanos , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/epidemiologia
16.
BMJ Case Rep ; 14(8)2021 Aug 25.
Artigo em Inglês | MEDLINE | ID: mdl-34433534

RESUMO

We present a case of a 7-year-old Afro-Caribbean girl presenting with rapidly progressive bilateral sensorineural hearing loss. She was found to have an elevated Angiotensin converting enzyme (ACE) and mediastinal lymphadenopathy containing non-caseating granulomas with multinucleate giant cells, in keeping with sarcoidosis. Cranial imaging demonstrated labyrinthitis. She underwent urgent bilateral cochlear implantation with rehabilitation of hearing sufficient to restart education within 1 month.


Assuntos
Implante Coclear , Perda Auditiva Neurossensorial , Labirintite , Sarcoidose , Criança , Feminino , Perda Auditiva Bilateral/etiologia , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Neurossensorial/cirurgia , Humanos , Sarcoidose/complicações , Sarcoidose/diagnóstico
17.
Curr Opin Pulm Med ; 27(5): 463-471, 2021 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-34397613

RESUMO

PURPOSE OF REVIEW: Patients with sarcoidosis may be at higher risk of coronavirus disease-19 (COVID-19) as over 90% of the patients have pulmonary involvement and many are treated with immunosuppressive agents. This review will summarize the current literature regarding sarcoidosis and COVID-19, with a particular focus on susceptibility, clinical outcomes, management, and approach to vaccination. RECENT FINDINGS: Data about COVID-19 and sarcoidosis include a number of case series and reports, cohort studies, and registries. Literature is not conclusive whether patients with sarcoidosis have increased susceptibility to COVID-19. Patients with moderate to severe impaired pulmonary function may be at increased risk of adverse outcomes and mortality. Whether immunosuppressive medication increases risk of COVID-19 severity or affects vaccination response is not yet clear. Novel approaches, such as telemedicine and home monitoring programs, are promising to ensure continuity of care for patients with sarcoidosis during the COVID-19 pandemic. SUMMARY: Current evidence about the risk and clinical outcomes of COVID-19 infection in patient with sarcoidosis, is mainly extrapolated from other immune-mediated diseases. Hence, further research that focuses on the sarcoidosis population is warranted.


Assuntos
COVID-19 , Sarcoidose , Telemedicina , Humanos , Pandemias , SARS-CoV-2 , Sarcoidose/tratamento farmacológico , Sarcoidose/epidemiologia
18.
BMJ Case Rep ; 14(8)2021 Aug 26.
Artigo em Inglês | MEDLINE | ID: mdl-34446511

RESUMO

A 53-year-old woman presented to hospital with gait instability, urinary incontinence and confusion. She had a 4-month history of headache, blurred vision, personality change and memory problems. Magnetic Resonance Imaging of the brain after contrast application showed tectal plate and occipital enhancement, as well as a known hydrocephalus. Cerebrospinal fluid showed aseptic meningitis with no evidence of clonal expansion. After further imaging that showed generalised lymphadenopathy and subsequent tissue biopsy that showed granulomatous lymphadenitis, she was diagnosed with neurosarcoidosis. She was treated with steroids which resulted in immediate cognitive and motor improvements as well as resolution of her urinary incontinence. We discuss the features of this case that pointed towards neoplastic, infective and other autoimmune aetiologies. We describe how they were excluded and provide the rationale for our treatment. This case demonstrates an important sequela sarcoidosis, and we conclude by recommending a multidisciplinary approach towards its diagnosis and management.


Assuntos
Doenças do Sistema Nervoso Central , Hidrocefalia , Meningite Asséptica , Sarcoidose , Doenças do Sistema Nervoso Central/complicações , Doenças do Sistema Nervoso Central/diagnóstico , Doenças do Sistema Nervoso Central/tratamento farmacológico , Feminino , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/etiologia , Imageamento por Ressonância Magnética , Meningite Asséptica/complicações , Meningite Asséptica/diagnóstico , Meningite Asséptica/tratamento farmacológico , Pessoa de Meia-Idade , Sarcoidose/complicações , Sarcoidose/diagnóstico , Sarcoidose/tratamento farmacológico
19.
Cells ; 10(8)2021 08 05.
Artigo em Inglês | MEDLINE | ID: mdl-34440765

RESUMO

Sarcoidosis is a multisystem disease characterized by the development and accumulation of granulomas, the hallmark of an inflammatory process induced by environmental and/or infectious and or genetic factors. This auto-inflammatory disease mainly affects the lungs, the gateway to environmental aggressions and viral infections. We have shown previously that genetic predisposition to sarcoidosis occurring in familial cases is related to a large spectrum of pathogenic variants with, however, a clustering around mTOR (mammalian Target Of Rapamycin)-related pathways and autophagy regulation. The context of the COVID-19 pandemic led us to evaluate whether such genetic defects may increase the risk of a severe course of SARS-CoV2 infection in patients with sarcoidosis. We extended a whole exome screening to 13 families predisposed to sarcoidosis and crossed the genes sharing mutations with the list of genes involved in the SARS-CoV2 host-pathogen protein-protein interactome. A similar analysis protocol was applied to a series of 100 healthy individuals. Using ENRICH.R, a comprehensive gene set enrichment web server, we identified the functional pathways represented in the set of genes carrying deleterious mutations and confirmed the overrepresentation of autophagy- and mitophagy-related functions in familial cases of sarcoidosis. The same protocol was applied to the set of genes common to sarcoidosis and the SARS-CoV2-host interactome and found a significant enrichment of genes related to mitochondrial factors involved in autophagy, mitophagy, and RIG-I-like (Retinoic Acid Inducible Gene 1) Receptor antiviral response signaling. From these results, we discuss the hypothesis according to which sarcoidosis is a model for studying genetic abnormalities associated with host response to viral infections as a consequence of defects in autophagy and mitophagy processes.


Assuntos
Autofagia , COVID-19/fisiopatologia , Sarcoidose/fisiopatologia , COVID-19/enzimologia , Genômica , Humanos , Mitofagia , Proteínas Serina-Treonina Quinases , Sarcoidose/enzimologia , Sequenciamento Completo do Exoma
20.
Orphanet J Rare Dis ; 16(1): 298, 2021 07 03.
Artigo em Inglês | MEDLINE | ID: mdl-34217348

RESUMO

BACKGROUND: Bronchoalveolar lavage (BAL) is one of the fundamental examinations for the differential diagnosis of interstitial lung diseases (ILDs), and lymphocytosis strongly indicates alternative diagnoses rather than idiopathic pulmonary fibrosis. However, the BALF lymphocytosis is observed in several ILDs. We considered that quantitative evaluation of the BALF lymphocyte nuclear morphology would be useful in the differential diagnosis of ILDs with increased BALF lymphocyte fraction. RESULTS: One hundred and twenty-one patients with ILDs having increased BALF lymphocyte fraction were recruited (68 in the development cohort and 53 in the validation cohort). In the development cohort, BALF lymphocyte nuclei in sarcoidosis patients showed significantly smaller areas, shorter perimeters, lower radius ratios, and increased roundness than those of other ILD patients (p < 0.001 for each). Next, the fractions of lymphocytes with small areas, short perimeters, low radius ratios, and increased roundness, which were determined based on receiver operating characteristic (ROC) analyses-based thresholds, were demonstrated to be higher in sarcoidosis patients than in the other ILD patients (p < 0.001 for each). Furthermore, when we combined size-representing parameters with shape-representing parameters, the fraction of lymphocytes with small and round nuclei showed approximately 0.90 of area under the ROC curve in discriminating sarcoidosis both in the development cohort and the validation cohort. CONCLUSION: This study is the first to demonstrate the usefulness of quantitative parameters of BALF lymphocyte nuclear morphology as novel biomarkers for sarcoidosis.


Assuntos
Doenças Pulmonares Intersticiais , Sarcoidose , Biomarcadores , Líquido da Lavagem Broncoalveolar , Humanos , Doenças Pulmonares Intersticiais/diagnóstico , Linfócitos , Sarcoidose/diagnóstico
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