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2.
Clin Res Hepatol Gastroenterol ; 47(5): 102114, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36967074

RESUMO

Primary Biliary Cholangitis (PBC) is an autoimmune liver disease that is sometimes associated with CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome. If left untreated, PBC eventually progresses to liver cirrhosis. We describe an adult patient with CREST-PBC who presented with recurrent variceal bleeding and ultimately required transjugular intrahepatic portosystemic shunt (TIPS) insertion. Liver biopsy excluded cirrhosis, resulting in a diagnosis of noncirrhotic portal hypertension. This case report describes the pathophysiology of presinusoidal portal hypertension as a rare complication of PBC and its association with coexisiting CREST.


Assuntos
Síndrome CREST , Varizes Esofágicas e Gástricas , Hipertensão Portal , Cirrose Hepática Biliar , Derivação Portossistêmica Transjugular Intra-Hepática , Adulto , Humanos , Síndrome CREST/complicações , Cirrose Hepática Biliar/complicações , Varizes Esofágicas e Gástricas/complicações , Hemorragia Gastrointestinal/etiologia , Hipertensão Portal/complicações , Cirrose Hepática/complicações , Resultado do Tratamento
4.
Am J Med Sci ; 365(4): 321-328, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36535538

RESUMO

A rare overlap syndrome between CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome and primary biliary cholangitis (PBC) is described as PACK syndrome, an acronym for primary biliary cholangitis, anticentromere antibodies, CREST syndrome, and keratoconjunctivitis sicca. In this retrospective cohort analysis and review, we present fourteen patients who meet diagnostic criteria for PACK syndrome in one of the largest case series of this group. All patients were female, 86% of whom were White with an average age of 66.7 years (range 39-78 years). The prevalence was 5.08% in our PBC cohort (n=256) similar to previous findings. CREST syndrome was diagnosed prior to PBC in 58% of our patients and limited pulmonary and renal involvement were observed. This syndrome is rare, but given its insidious development, clinicians should be aware of this potential overlap in CREST-only and PBC-only patients.


Assuntos
Síndrome CREST , Cirrose Hepática Biliar , Doença de Raynaud , Telangiectasia , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Idoso , Masculino , Estudos Retrospectivos
7.
ARP Rheumatol ; 1(1): 21-29, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35633574

RESUMO

BACKGROUND: Systemic sclerosis (SSc) is a rare connective tissue disorder with heterogeneous manifestations and outcomes. Besides differences in disease characteristics among distinct ethnic groups and geographical regions, several questions regarding the impact of the disease and the effectiveness of treatments remain unanswered. To address these questions, the Rheumatic Diseases Portuguese Register (Reuma.pt) launched a specific protocol for the prospective follow-up of SSc patients. OBJECTIVES: To describe the baseline characteristics, disease subsets, treatments used and survival of SSc patients registered in Reuma.pt/SSc. METHODS: Data from adult patients with SSc included in Reuma.pt up to November 2020 were analysed. Demographic features, SSc subsets, fulfilment of classification criteria, main clinical and immunological features, comorbidities, treatments used and survival data were described and compared between diffuse cutaneous (dc) and limited cutaneous (lc) disease subsets. Survival was calculated for patients included in Reuma.pt within the first two years of diagnosis. RESULTS: In total, 1054 patients were included, 87.5% female, with a mean age at diagnosis of 52.7 +/- 14.8 years. The most common subset was lcSSc (56.3%), followed by dcSSc (17.5%), preclinical SSc (13%), overlap syndrome (9.8%) and SSc sine scleroderma (3.3%). Raynaud's phenomenon (93.4%) and skin thickening (76.9%) were the most frequently observed clinical manifestations. Gastrointestinal (62.8% versus 47.8%), pulmonary (59.5% versus 23%) and cardiac (12.8% versus 6.9%) involvements were significantly more prevalent in dcSSc than lcSSc. Ninety per-cent of patients were Antinuclear antibody positive, 52.5% were Anti-centromere antibody positive and 21% anti-topoisomerase positive, with significant differences between lcSSc and dcSSc. One-third of patients were treated with immunomodulators, 53.6% with vasodilators, 23% with glucocorticoids and 2.3% with biologics. During follow-up, 83 deaths (7.9%) were reported. The overall 1-, 2- and 5-year survivals were 98.0%, 96.8% and 92.6%, respectively, without significant differences between lcSSc and dcSSc. CONCLUSION: Reuma.pt/SSc data highlights the importance of registries in improving knowledge about rare and complex diseases, such as SSc. Clinical features of Portuguese SSc patients are similar to those of other populations. In recently diagnosed patients, 5-year survival is over 92%. To the best of our knowledge, this is the first study showing that clinical features of Portuguese SSc are similar to those of other cohorts.


Assuntos
Síndrome CREST , Doenças do Tecido Conjuntivo , Esclerodermia Difusa , Escleroderma Sistêmico , Dermatopatias , Adulto , Anticorpos Antinucleares , Feminino , Humanos , Masculino , Estudos Prospectivos , Sistema de Registros , Esclerodermia Difusa/diagnóstico , Escleroderma Sistêmico/diagnóstico
8.
J Neurosurg ; 135(1): 126-135, 2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34250789

RESUMO

OBJECTIVE: The object of this study was to ascertain outcomes of cochlear implantation (CI) following stereotactic radiosurgery (SRS) for vestibular schwannoma (VS). METHODS: The authors conducted a retrospective chart review of adult patients with VS treated with SRS who underwent CI between 1990 and 2019 at a single tertiary care referral center. Patient demographics, tumor features, treatment parameters, and pre- and postimplantation audiometric and clinical outcomes are presented. RESULTS: Seventeen patients (18 ears) underwent SRS and ipsilateral CI during the study period. Thirteen patients (76%) had neurofibromatosis type 2 (NF2). Median age at SRS and CI were 44 and 48 years, respectively. Median time from SRS to CI was 60 days, but notably, 4 patients underwent SRS and CI within 1 day and 5 patients underwent CI more than 7 years after SRS. Median marginal dose was 13 Gy. Median treatment volume at the time of SRS was 1400 mm3 (range 84-6080 mm3, n = 15 patients). Median post-CI PTA was 28 dB HL, improved from 101 dB HL preoperatively (p < 0.001). Overall, 11 patients (12 ears) exhibited open-set speech understanding. Sentence testing was performed at a median of 10 months (range 1-143 months) post-CI. The median AzBio sentence score for patients with open-set speech understanding was 76% (range 19%-95%, n = 10 ears). Two ears exhibited Hearing in Noise Test (HINT) sentence scores of 49% and 95%, respectively. Four patients achieved environmental sound awareness without open-set speech recognition. Two had no detectable auditory percepts. CONCLUSIONS: Most patients who underwent CI following SRS for VS enjoyed access to sound at near-normal levels, with the majority achieving good open-set speech understanding. Implantation can be performed immediately following SRS or in a delayed fashion, depending on hearing status as well as other factors. This strategy may be applied to cases of sporadic or NF2-associated VS. ABBREVIATIONS: AAO-HNS = American Academy of Otolaryngology-Head and Neck Surgery; ABI = auditory brainstem implant; CI = cochlear implantation; CN = cranial nerve; CNC = consonant-nucleus-consonant; CPA = cerebellopontine angle; EPS = electrical promontory stimulation; ESA = environmental sound awareness; HINT = Hearing in Noise Test; IAC = internal auditory canal; NF2 = neurofibromatosis type 2; OSP = open-set speech perception; PTA = pure tone average; SRS = stereotactic radiosurgery; VS = vestibular schwannoma; WRS = word recognition score.


Assuntos
Implante Coclear , Perda Auditiva Neurossensorial/reabilitação , Perda Auditiva Unilateral/reabilitação , Neuroma Acústico/cirurgia , Radiocirurgia , Adolescente , Adulto , Idoso , Síndrome CREST/complicações , Nervo Coclear/diagnóstico por imagem , Nervo Coclear/fisiopatologia , Feminino , Perda Auditiva Neurossensorial/etiologia , Perda Auditiva Unilateral/etiologia , Testes Auditivos , Humanos , Masculino , Pessoa de Meia-Idade , Neurofibromatose 2/complicações , Neuroma Acústico/complicações , Neuroma Acústico/diagnóstico por imagem , Neuroma Acústico/reabilitação , Estudos Retrospectivos , Percepção da Fala , Resultado do Tratamento , Adulto Jovem
10.
Postgrad Med J ; 97(1153): 746, 2021 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32883767
14.
Reumatol Clin (Engl Ed) ; 16(6): 497-498, 2020.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-30691950

RESUMO

Systemic sclerosis is a connective tissue pathology with very heterogeneous clinical manifestations, associated in a small percentage with inflammatory eye diseases. In the specific case of uveitis, only isolated cases have been reported in the literature, especially in relation to the CREST syndrome. We present the case of a 53-year-old woman with CREST syndrome and chronic anterior uveitis, which we consider of clinical relevance given its low prevalence.


Assuntos
Síndrome CREST/complicações , Uveíte Anterior/etiologia , Idoso de 80 Anos ou mais , Doença Crônica , Feminino , Humanos
15.
Tex Heart Inst J ; 47(4): 319-321, 2020 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-33472228

RESUMO

The radial artery approach for coronary angiography and intervention is rapidly replacing the femoral artery approach, largely because it reduces bleeding and vascular access site complications. However, complications associated with transradial access warrant attention, notably radial artery occlusion. This report focuses on a case of radial artery occlusion after percutaneous coronary intervention in a 46-year-old woman with CREST (calcinosis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia) syndrome, which ultimately led to acute hand ischemia necessitating amputation of her middle and index fingers.


Assuntos
Amputação Cirúrgica/métodos , Arteriopatias Oclusivas/cirurgia , Síndrome CREST/complicações , Falanges dos Dedos da Mão/cirurgia , Animais , Arteriopatias Oclusivas/complicações , Arteriopatias Oclusivas/diagnóstico , Feminino , Falanges dos Dedos da Mão/irrigação sanguínea , Humanos , Pessoa de Meia-Idade , Intervenção Coronária Percutânea/efeitos adversos , Artéria Radial
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