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1.
Ther Clin Risk Manag ; 15: 1411-1416, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31824164

RESUMO

Diagnosis of Kawasaki disease (KD) is based on well-established clinical criteria. In incomplete or atypical KD, the diagnosis is challenging, because of the paucity of clinical signs or because of the presence of clinical manifestations that generally are not seen in KD. We describe the case of a 3-year-old female patient with persistent high fever, vomiting, watery diarrhea, metabolic acidosis and severe hypopotassemia. On the fourth day of fever, bilateral conjunctivitis, mucous and extremity changes were registered. Urine changes as glycosuria and proteinuria were also noticed. Echocardiography revealed ectasia of the left anterior descending coronary artery, and diagnosis of KD was established. The treatment consisted of intravenous immunoglobulin (IVIG) and oral aspirin. Recurrence of disease was recorded on the 23rd day of the disease, with favorable evolution after the second dose of IVIG was infused.

3.
Med Pharm Rep ; 92(2): 200-204, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31086851

RESUMO

Exocrine pancreatic insufficiency is an important cause of chronic malnutrition, secondary to maldigestion-malabsorption, which can be caused in children especially by cystic fibrosis, but also by other much rarer diseases. The case of a 6 months and 3 weeks old male pediatric patient is reported, who was admitted to the clinic for head and forearms bruising. Laboratory findings identified vitamin K deficiency as the cause of the cutaneous hemorrhagic syndrome. Further investigations revealed association of steatorrhea (which is a marker of fat malabsorption), iron-deficiency anemia and hypovitaminosis D, which had been produced by nutritional deficiencies caused by malabsorption syndrome. From the numerous disorders that could be associated with pancreatic insufficiency in children, the following conditions had been excluded: cystic fibrosis (mucoviscidosis), cow's milk protein intolerance, gluten-sensitive enteropathy (coeliac disease), Shwachman-Diamond syndrome, abetalipoproteinemia, etc. Based upon decreased levels of stool pancreatic elastase in repeated measurements, together with low serum lipase, the final diagnosis of exocrine pancreatic insufficiency was established. Treatment of this case consisted mainly in pancreatic enzyme replacement therapy, but also oral iron supplementation and dietary supplements with fat-soluble vitamins (A, D, E, K). The outcome was favorable, characterized by normalization of intestinal passage, ascending growth curve and normalization of the majority of laboratory tests values that were modified between the time of patient admission to our clinic and initiation of specific therapy (serum level of vitamin K, vitamin D and lipase, coagulation profile, hemoglobin and red blood cell indexes), as well as higher value of fecal pancreatic elastase.

4.
Lancet Child Adolesc Health ; 3(4): 255-263, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30819662

RESUMO

BACKGROUND: To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. METHODS: In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile idiopathic arthritis, according to International League of Associations for Rheumatology criteria, who were seen consecutively for a period of 6 months. Each patient underwent retrospective and cross-sectional assessments, including measures of disease activity and damage and questionnaires on the wellbeing and quality of life of the children. We qualitatively compared the collected data across eight geographical areas, and we explored an association between disease activity and damage and a country's gross domestic product (GDP) with a multiple logistic regression analysis. FINDINGS: Between April 4, 2011, and Nov 21, 2016, 9081 patients were enrolled at 130 centres in 49 countries, grouped into eight geographical areas. Systemic arthritis (125 [33·0%] of 379 patients) and enthesitis-related arthritis (113 [29·8%] of 379) were more common in southeast Asia, whereas oligoarthritis was more prevalent in southern Europe (1360 [56·7%] of 2400) and rheumatoid factor-negative polyarthritis was more frequent in North America (165 [31·5%] of 523) than in the other areas. Prevalence of uveitis was highest in northern Europe (161 [19·1%] of 845 patients) and southern Europe (450 [18·8%] of 2400) and lowest in Latin America (54 [6·4%] of 849), Africa and Middle East (71 [5·9%] of 1209), and southeast Asia (19 [5·0%] of 379). Median age at disease onset was lower in southern Europe (3·5 years, IQR 1·9-7·3) than in other regions. Biological, disease-modifying antirheumatic drugs were prescribed more frequently in northern Europe and North America than in other geographical settings. Patients living in countries with lower GDP had greater disease activity and damage than those living in wealthier countries. Damage was associated with referral delay. INTERPRETATION: Our study documents a variability in prevalence of disease phenotypes and disparities in therapeutic choices and outcomes across geographical areas and wealth status of countries. The greater disease burden in lower-resource settings highlights the need for public health efforts aimed at improving equity in access to effective treatments and care for juvenile idiopathic arthritis. FUNDING: IRCCS Istituto Giannina Gaslini.

5.
Rheumatol Int ; 38(Suppl 1): 331-338, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29637333

RESUMO

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient-reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Romanian language. The reading comprehension of the questionnaire was tested in 15 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 310 JIA patients (11.9% systemic, 21.6% oligoarticular, 31.9% RF-negative polyarthritis, 34.6% other categories) and 100 healthy children, were enrolled in six centres. The JAMAR components discriminated well healthy subjects from JIA patients except for the health-related quality of life psychosocial health subscales. All JAMAR components revealed good psychometric performances. In conclusion, the Romanian version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.


Assuntos
Artrite Juvenil/diagnóstico , Avaliação da Deficiência , Medidas de Resultados Relatados pelo Paciente , Reumatologia/métodos , Adolescente , Idade de Início , Artrite Juvenil/fisiopatologia , Artrite Juvenil/psicologia , Artrite Juvenil/terapia , Estudos de Casos e Controles , Criança , Pré-Escolar , Características Culturais , Feminino , Nível de Saúde , Humanos , Masculino , Pais/psicologia , Pacientes/psicologia , Valor Preditivo dos Testes , Prognóstico , Psicometria , Qualidade de Vida , Reprodutibilidade dos Testes , Romênia , Tradução
6.
Med Ultrason ; 19(2): 224-227, 2017 Apr 22.
Artigo em Inglês | MEDLINE | ID: mdl-28440359

RESUMO

Hyperimmunoglobulin D syndrome due to mevalonate kinase deficiency is a rare autoinflammatory disease with digestive tract involvement. We report an 11-year female child who has presented since the age of 1 year, bouts of fever, rash, joint swelling, pulmonary consolidation, lymph node involvement and hepatosplenomegaly. Hyperimmunglobulin D and increased urinary mevalonic acid were detected. The ultrasonographic features of hepatosplenomegaly ranged from increment in size to pseudotumoral involvement, with hypoechogenic masses without apparent wall. Abdominal CT during a disease flare showed hypodense, hypoenhancing nodular lesions, suggesting metastases. Nevertheless, a thorough search for malignancy was negative and the masses disappeared after the flare. Mevalonate kinase deficiency may add to the causes of hepatosplenic and pulmonary inflammatory pseudotumors.


Assuntos
Hepatomegalia/diagnóstico por imagem , Deficiência de Mevalonato Quinase/diagnóstico por imagem , Esplenomegalia/diagnóstico por imagem , Ultrassonografia/métodos , Criança , Diagnóstico Diferencial , Feminino , Humanos
7.
Pediatr Rheumatol Online J ; 13: 51, 2015 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-26590091

RESUMO

BACKGROUND: Our aim was to investigate the prevalence and clinical relevance of inherited complement and antibody deficiency states in a large series of patients with various autoimmune rheumatologic diseases (ARD) with juvenile onset. METHODS: A total number of 117 consecutive patients from 2 tertiary referral hospitals were included in the study. All patients underwent genetic screening for type I C2 deficiency and C4 allotyping. Serum levels of immunoglobulin classes measured systematically throughout their regular medical care were recorded retrospectively. RESULTS: Our cohort of patients included 84 with juvenile idiopathic arthritis (JIA), 21 with systemic lupus erythematosus (SLE), 6 with systemic vasculitis, 2 with juvenile scleroderma, 2 with idiopathic uveitis, 1 with mixed connective tissue disease and 1 with SLE/scleroderma overlap syndrome. We have found 16 patients with evidence of primary immunodeficiency in our series (13.7%), including 7 with C4 deficiency, 5 with selective IgA deficiency, 3 with C2 deficiency and 2 with unclassified hypogammaglobulinemia (one also presented C4D). Of the 84 patients with JIA, 4 (4.8%) had a complement deficiency, which was less prevalent than in the SLE cohort (23.8%), but all of them have exhibited an aggressive disease. Most of our patients with primary antibody deficiencies showed a more complicated and severe disease course and even the co-occurrence of two associated autoimmune diseases (SLE/scleroderma overlap syndrome and SLE/autoimmune hepatitis type 1 overlap). CONCLUSIONS: Our findings among others demonstrate that complement and immunoglobulin immunodeficiencies need careful consideration in patients with ARD, as they are common and might contribute to a more severe clinical course of the disease.


Assuntos
Doenças Autoimunes/epidemiologia , Proteínas do Sistema Complemento/deficiência , Síndromes de Imunodeficiência/epidemiologia , Doenças Reumáticas/epidemiologia , Adolescente , Idade de Início , Artrite Juvenil/epidemiologia , Artrite Juvenil/imunologia , Doenças Autoimunes/imunologia , Criança , Pré-Escolar , Complemento C2/deficiência , Complemento C4/deficiência , Feminino , Humanos , Síndromes de Imunodeficiência/imunologia , Lactente , Lúpus Eritematoso Sistêmico/epidemiologia , Lúpus Eritematoso Sistêmico/imunologia , Masculino , Estudos Prospectivos , Doenças Reumáticas/imunologia , Escleroderma Sistêmico/epidemiologia , Escleroderma Sistêmico/imunologia , Vasculite Sistêmica/epidemiologia , Vasculite Sistêmica/imunologia , Uveíte/epidemiologia , Uveíte/imunologia
8.
Aesthet Surg J ; 33(6): 878-85, 2013 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-23812953

RESUMO

BACKGROUND: The global popularity of cosmetic surgery, combined with mass media attention on medical consumerism, has resulted in misinformation that may have negatively affected the "collective image" of aesthetic practitioners. OBJECTIVES: The authors assess patients' perceptions of cosmetic surgery and analyze their decision-making processes. METHODS: During a 2-year period, 250 consecutive patients presenting to either of 2 public hospitals for cosmetic surgery treatment were asked to complete a 7-item questionnaire evaluating their knowledge of opinions about, and referring practices for, aesthetic procedures. Patients undergoing oncologic, postbariatric, or reconstructive procedures were not included in the study. RESULTS: After exclusion of 71 cases for refusal or incompletion, 179 questionnaires were retained and analyzed (from 162 women and 17 men). Overall, repair (70.4%), comfort (45.3%), and health (40.8%) were the words most frequently associated with cosmetic surgery. Quality of preoperative information (69.3%), patient-physician relationship (65.4%), and results seen in relatives/friends (46.3%) were the most important criteria for selecting a cosmetic surgeon. Moreover, 82.7% of patients knew the difference between cosmetic surgery and cosmetic medicine. CONCLUSIONS: Although potential patients appear to be more educated about cosmetic surgery than they were several years ago, misinformation still persists. As physicians, we must be responsible for disseminating accurate education and strengthening our collaboration with general practitioners to improve not only our results but also the accuracy of information in the mass media.


Assuntos
Técnicas Cosméticas , Conhecimentos, Atitudes e Prática em Saúde , Internacionalidade , Meios de Comunicação de Massa , Satisfação do Paciente , Pacientes/psicologia , Percepção , Procedimentos Cirúrgicos Reconstrutivos , Adulto , Idoso , Comportamento de Escolha , Informação de Saúde ao Consumidor , Feminino , França , Hospitais Públicos , Humanos , Masculino , Marketing de Serviços de Saúde , Pessoa de Meia-Idade , Educação de Pacientes como Assunto , Preferência do Paciente , Relações Médico-Paciente , Encaminhamento e Consulta , Inquéritos e Questionários , Adulto Jovem
9.
Am J Surg Pathol ; 36(5): 779-82, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22498828

RESUMO

Mastocytosis is a group of disorders characterized by abnormal mast cell proliferation, involving the skin in 80% of cases. Cutaneous mastocytosis, which appears in childhood in 60% of cases, usually has a benign course with a gradually regressive evolution before puberty. Mast cell sarcomas, part of the systemic forms of mastocytosis, are very rare tumors characterized by a destructive growth of highly atypical mast cells, with secondary spread, poor prognosis, and low survival rates. We report the first known case of primary cutaneous mast cell sarcoma due to the transformation of a benign solitary mastocytoma in an adult suffering from an unregressive localized cutaneous mastocytosis. Histologic characteristics of the tumor, mutation analysis, and c-Kit expression were compared with available data. Wide surgical excision of the tumor followed by adjuvant local radiotherapy were performed, and for the first time the use of imatinib was attempted, as neoplastic mast cells expressed the CD117 marker. However, they failed to control the progression of sarcoma. To date, no treatment is known to be effective for this disease, which is associated with short-term survival of the patients.


Assuntos
Transformação Celular Neoplásica , Sarcoma de Mastócitos/patologia , Mastocitoma Cutâneo/patologia , Neoplasias Cutâneas/patologia , Adulto , Evolução Fatal , Humanos , Masculino
10.
Ann Rheum Dis ; 69(5): 798-806, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20413568

RESUMO

OBJECTIVES: To validate the previously proposed classification criteria for Henoch-Schönlein purpura (HSP), childhood polyarteritis nodosa (c-PAN), c-Wegener granulomatosis (c-WG) and c-Takayasu arteritis (c-TA). METHODS: Step 1: retrospective/prospective web-data collection for children with HSP, c-PAN, c-WG and c-TA with age at diagnosis

Assuntos
Granulomatose com Poliangiite/classificação , Poliarterite Nodosa/classificação , Púrpura de Schoenlein-Henoch/classificação , Arterite de Takayasu/classificação , Adolescente , Criança , Métodos Epidemiológicos , Granulomatose com Poliangiite/diagnóstico , Humanos , Cooperação Internacional , Poliarterite Nodosa/diagnóstico , Púrpura de Schoenlein-Henoch/diagnóstico , Arterite de Takayasu/diagnóstico , Terminologia como Assunto
11.
Obes Surg ; 19(8): 1170-5, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19517201

RESUMO

Abdominoplasty provides a reconstructive but rarely aesthetic cosmetic solution after major weight loss. Few articles document quality of life (QOL) issues and the psychological impact of abdominoplasty on obese patients. We report a retrospective study of 41 abdominoplasties performed after an average weight loss of 40.2 kg. Data were obtained through review of patient medical files, double-blind surgical and psychological examinations, and two specifically designated questionnaires used to assess pre-abdominoplasty body perception and QOL, post-body contouring perception of improvement, and psychological status. To date, 14 patients have regained >10 kg; 84.6% have improved QOL; 86.5% have improved psychological status; 74% have better sexual relations; 53.9% admit liking their body; 76.9% are satisfied with the results of abdominoplasty; and 96.1% would be willing to undergo abdominoplasty again. Anterior dermolipectomy improves both QOL and psychological status. Provision of patient education, multidisciplinary management, and long-term follow up are necessary to obtain satisfactory results.


Assuntos
Parede Abdominal/cirurgia , Qualidade de Vida , Procedimentos Cirúrgicos Reconstrutivos/métodos , Procedimentos Cirúrgicos Reconstrutivos/psicologia , Perda de Peso , Adulto , Imagem Corporal , Método Duplo-Cego , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Obesidade/cirurgia , Satisfação do Paciente , Estudos Retrospectivos , Comportamento Sexual , Inquéritos e Questionários , Resultado do Tratamento , Adulto Jovem
12.
J Reconstr Microsurg ; 25(4): 233-6, 2009 May.
Artigo em Inglês | MEDLINE | ID: mdl-19061155

RESUMO

Extensive upper-limb injuries are usually secondary to accidental partial or complete avulsions or massive burns. Caustic injections are an exceptional etiology, with terrible lesions that present therapeutic challenges and major aftereffects. We report the case of a 41-year-old patient presenting with a large and deep anterior necrosis of the upper-limb anterior tissues, after a criminal intravenous injection of caustic soda on the inner side of his left elbow. Reconstruction methods consisted of a homolateral latissimus dorsi pediculated flap, a humeroulnar vascular bypass, a medial nerve autograft, and a secondary palliative Brand 1 procedure. Final functional and aesthetic results, obtained after long-term physiotherapy, were unexpectedly good. In conclusion, reconstructive surgery of such major lesions cannot be considered without a multidisciplinary approach. Moreover, patients have to be well informed about the necessity of multiple surgical interventions, the risk of major handicap, and the unpredictable nature of the final outcome.


Assuntos
Cáusticos/administração & dosagem , Procedimentos Cirúrgicos Reconstrutivos/métodos , Retalhos Cirúrgicos , Extremidade Superior/cirurgia , Adulto , Estética , Humanos , Injeções Intravenosas , Masculino , Recuperação de Função Fisiológica , Transplante de Pele , Extremidade Superior/lesões
13.
Rom J Gastroenterol ; 14(3): 219-24, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16200230

RESUMO

BACKGROUND: In chronic infection with hepatitis virus B the fact that HBeAg becomes negative does not always mean suppression of viral replication. METHOD: HBV replication was assessed in 74 patients with chronic hepatitis or viral B cirrhosis, in whom diagnosis was made according to clinical, biological, and histological criteria. The patients were divided into two groups: group I (36 patients with interferon- therapy, 3 million U/m 2/ dose, 3 doses/week over a period of 4-6 months) and group II (control group of 38 patients who did not undergo interferon therapy). After a follow up period of 6 years in which patients underwent clinical, biochemical and serologic monitorization, HBV DNA was detected by the hybridization method on solid medium. RESULTS: During evolution the levels of transaminases became normal in both groups. The HBe Ag/Ab seroconversion rate at the end of the interferon therapy was 52.8% and the spontaneous HBe Ag/Ab seroconversion rate was 72.7% in group II after an average evolution of 6 years. HBs Ag/Ab seroconversion was not detected in any patient. Assessment of viral replication by HBV DNA testing at the end of the follow up period showed higher levels as compared to the HBeAg testing (69.4% vs. 25% in group I, 55.2% vs. 7.9% in group II). The absence of viral replication (HBV DNA negative) had similar rates in both groups (30.6% in group I vs. 44.8% in group II, p>0.9) and HBV DNA titers in the two groups were not significantly different at the end of the follow up period. In both groups, HBV DNA titers were significantly higher in patients with positive HBeAg. The concordance between the two viral markers was 100%. CONCLUSION: Because of the fluctuating evolution, long-term follow up and monitorization (including HBV DNA testing) of patients with chronic hepatitis B and of inactive HBsAg carriers are necessary.


Assuntos
Antivirais/uso terapêutico , Hepatite B Crônica/tratamento farmacológico , Interferon-alfa/uso terapêutico , Replicação Viral , Estudos de Casos e Controles , Criança , Pré-Escolar , DNA Viral/análise , Feminino , Antígenos da Hepatite B/análise , Antígenos da Hepatite B/imunologia , Hepatite B Crônica/virologia , Humanos , Cirrose Hepática , Masculino
14.
Ann Otol Rhinol Laryngol ; 113(8): 652-4, 2004 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-15330146

RESUMO

Inflammatory hemangioma of the nasal septum, known as "bleeding polyp," is an uncommon lesion in adults. We report the case of a 20-year-old woman who presented with left nasal hemangioma revealed by unilateral epistaxis and obstruction. The patient had a medical history of septoplasty performed 5 years earlier. This benign tumor can be spontaneous or posttraumatic and occurs in young postpubertal adults or patients over 40 years of age, without a sex preponderance. The site of origin is most frequently the cartilaginous septum. The appearance and clinical signs often mimic malignancy, and a biopsy for histologic confirmation of the diagnosis is crucial. The capillary hemangioma is more frequently observed than the cavernous type. This tumor does not present spontaneous involution, and treatment is based on a surgical excision including the mucosa and the underlying perichondrium, after computed tomographic and/or nuclear magnetic resonance examination.


Assuntos
Hemangioma/diagnóstico , Septo Nasal , Neoplasias Nasais/diagnóstico , Adulto , Feminino , Hemangioma/patologia , Hemangioma/cirurgia , Humanos , Pólipos Nasais/diagnóstico , Neoplasias Nasais/patologia , Neoplasias Nasais/cirurgia , Tomografia Computadorizada por Raios X
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