Assuntos
Hemangioma Cavernoso/congênito , Hemangioma/congênito , Neoplasias Cutâneas/congênito , Antagonistas Adrenérgicos beta/efeitos adversos , Antagonistas Adrenérgicos beta/uso terapêutico , Progressão da Doença , Feminino , Hemangioma/diagnóstico , Hemangioma/tratamento farmacológico , Hemangioma Cavernoso/diagnóstico , Hemangioma Cavernoso/tratamento farmacológico , Humanos , Lactente , Recém-Nascido , Regressão Neoplásica Espontânea , Produção de Droga sem Interesse Comercial , Prognóstico , Propranolol/efeitos adversos , Propranolol/uso terapêutico , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/tratamento farmacológico , Ultrassonografia , Ultrassonografia Doppler DuplaRESUMO
Classic purpura of Henoch-Schönlein is described in a seven years old girl. Prominent clinical markers of this disease entity are: cutaneous, non thrombozytopenic, purple skin lesions, swollen and painful joints, micro- or macrohematuria and abdominal pain. No causal therapy exists; for ambulatory control of painful symptoms non steoidal anti-inflammatory agents and steroids should not be prescribed (danger for intestinal hemorrage). Prognosis in childhood is good, development of chronic glomerulopathy can occur.
Assuntos
Vasculite por IgA , Fatores Etários , Criança , Diagnóstico Diferencial , Feminino , Humanos , Vasculite por IgA/diagnóstico , Vasculite por IgA/etiologia , PrognósticoAssuntos
Medicina Baseada em Evidências/economia , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/economia , Programas Nacionais de Saúde/economia , Triagem Neonatal/economia , Análise Custo-Benefício , Luxação Congênita de Quadril/prevenção & controle , Humanos , Recém-Nascido , Cobertura do Seguro/economia , Sensibilidade e Especificidade , Suíça , UltrassonografiaAssuntos
Hiperparatireoidismo Secundário/diagnóstico , Raquitismo/diagnóstico , Deficiência de Vitamina D/diagnóstico , Administração Oral , Cálcio/administração & dosagem , Cálcio/uso terapêutico , Colecalciferol/administração & dosagem , Colecalciferol/uso terapêutico , Feminino , Seguimentos , Humanos , Lactente , Raquitismo/tratamento farmacológico , Raquitismo/etiologia , Fatores de Tempo , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológicoRESUMO
An eleven year old girl from Turkey was diagnosed to have a periodic fever syndrome. The diagnosis of familial mediterranean fever was made by molecular analysis of a mutation in the MEFV-Gen which codes for pyrin. The disease is well-known in the mediterranean area and belongs to the periodic fever syndromes. These syndromes are discussed for their differential diagnosis focused to childhood.
Assuntos
Febre Familiar do Mediterrâneo/diagnóstico , Fatores Etários , Criança , Pré-Escolar , Diagnóstico Diferencial , Febre Familiar do Mediterrâneo/genética , Feminino , Febre/induzido quimicamente , Febre/diagnóstico , Febre/etiologia , Febre/genética , Humanos , Hipergamaglobulinemia/diagnóstico , Imunoglobulina D , Lactente , Mutação , Periodicidade , Mutação Puntual , Receptores do Fator de Necrose Tumoral/genética , RecidivaAssuntos
Infecções por Adenoviridae/complicações , Pitiríase Liquenoide/diagnóstico , Infecções por Adenoviridae/diagnóstico , Infecções por Adenoviridae/tratamento farmacológico , Administração Oral , Amoxicilina/administração & dosagem , Amoxicilina/uso terapêutico , Biópsia , Criança , Diagnóstico Diferencial , Feminino , Seguimentos , Humanos , Penicilinas/administração & dosagem , Penicilinas/uso terapêutico , Pitiríase Liquenoide/etiologia , Pitiríase Liquenoide/patologia , Pele/patologia , Fatores de TempoRESUMO
Weight loss, day-time sleep and loss of appetite were leading symptoms in a thirteen years old girl, in whom consecutively the diagnosis of Crohn's disease of the stomach and the duodenum was made after endoscopy and biopsy were performed. There were no complaints of diarrhea, abdominal pain or other symptoms suspicious for this chronic inflammatory bowel disease.
Assuntos
Doença de Crohn/diagnóstico , Endoscopia Gastrointestinal , Fadiga/etiologia , Transtornos da Alimentação e da Ingestão de Alimentos/etiologia , Redução de Peso , Adolescente , Doença de Crohn/patologia , Diagnóstico Diferencial , Duodenopatias/diagnóstico , Duodenopatias/patologia , Doenças do Esôfago/diagnóstico , Doenças do Esôfago/patologia , Feminino , Mucosa Gástrica/patologia , Humanos , Mucosa Intestinal/patologia , Gastropatias/diagnóstico , Gastropatias/patologiaAssuntos
Exoftalmia/diagnóstico por imagem , Mucocele/diagnóstico por imagem , Doenças Orbitárias/diagnóstico por imagem , Infecções por Pseudomonas/diagnóstico por imagem , Pré-Escolar , Exoftalmia/microbiologia , Exoftalmia/cirurgia , Feminino , Humanos , Mucocele/microbiologia , Mucocele/cirurgia , Doenças Orbitárias/microbiologia , Doenças Orbitárias/cirurgia , Infecções por Pseudomonas/complicações , Infecções por Pseudomonas/cirurgia , Pseudomonas aeruginosa , Tomografia Computadorizada por Raios X/métodosRESUMO
Genotype-phenotype association in cystic fibrosis (CF) is difficult because of heterogeneous disease expression. The genotype-phenotype correlation for the 3905insT mutation in comparison to deltaF508 was studied here. Thirty CF patients compound heterozygous for 3905insT were compared to clinical presentation of matched patients homozygous for deltaF508 (1960-1997). Sweat tests, age at diagnosis, at death and at onset of Pseudomonas aeruginosa colonization were analysed. Chrispin-Norman scores and pulmonary function forced expiratory volume in one second (FEV1) determined severity of lung disease. Twenty-five of the patients with 3905insT had deltaF508 as a second mutation and five had another rare mutation. At the age of 15 yrs, 60% of patients with 3905insT had an FEV1 < 60% predicted in comparison to 25% of patients with deltaF508 (p<0.05). Age at death and cumulative survival rate was significantly lower (p<0.05) in the 3905insT than in the deltaF508 group (20.3 and 24.0 yrs, respectively). Age at onset of P. aeruginosa colonization was not different in the study groups. Sweat chloride concentrations were lower in patients homozygous for deltaF508 (105.63+/-15.3 mmol L(-1)) than in patients with 3905insT (119.9+/-22.1 mmol x L(-1)) (p<0.05). Patients compound heterozygous for 3905insT have similar high morbidity and mortality to patients homozygous for deltaF508.
Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Fibrose Cística/genética , Triagem de Portadores Genéticos , Mutação/genética , Adolescente , Adulto , Criança , Pré-Escolar , Fibrose Cística/mortalidade , Feminino , Volume Expiratório Forçado/genética , Genótipo , Humanos , Lactente , Masculino , Fenótipo , Pneumonia Bacteriana/genética , Pneumonia Bacteriana/mortalidade , Infecções por Pseudomonas/genética , Infecções por Pseudomonas/mortalidade , Análise de Sobrevida , Capacidade Vital/genéticaRESUMO
The Swiss Registry for Cystic Fibrosis (SRCF) was designed to collect demographic, clinical and therapeutic data from patients with cystic fibrosis (CF) in Switzerland. It was designed, programmed and implemented for standalone application in Swiss cystic fibrosis centres. It is part of the European Registry for Cystic Fibrosis (ERCF), which has been implemented in Europe to collect data on the use and safety of dornase alpha (Pulmozyme) in the treatment of cystic fibrosis. At the time of first evaluation 245 cystic fibrosis patients are registered, their mean age is 13 years, and 17% are over 18. In larger databases in Germany or North America we observe comparable demographic data, similar degrees of severity and similar therapeutic approaches to those in Swiss cystic fibrosis patients. The aim of the Swiss Registry is to cover the maximum possible number of cystic fibrosis patients from this country.
Assuntos
Fibrose Cística/epidemiologia , Fibrose Cística/terapia , Sistema de Registros , Adolescente , Adulto , Bases de Dados como Assunto , Demografia , Desoxirribonuclease I/uso terapêutico , Europa (Continente) , Expectorantes/uso terapêutico , Feminino , Humanos , Masculino , Proteínas Recombinantes/uso terapêutico , Suíça/epidemiologiaRESUMO
UNLABELLED: Although bacterial colonisation of bronchi may occur from early childhood onwards, infections extending beyond the lungs are uncommon in patients with cystic fibrosis. A 12-year-old boy with cystic fibrosis, receiving oral corticosteroids for 3 weeks because of allergic bronchopulmonary aspergillosis, experienced pneumonia and septicaemia caused by Staphylococcus aureus. He was treated with flucloxacillin, ticarcillin-clavulanate, aztreonam, cefazolin and rifampin according to resistance testing of S. aureus cultured from the blood. On day 25 the patient finally had recovered. CONCLUSION: Systemic steroid therapy for allergic bronchopulmonary aspergillosis may favour life-threatening systemic bacterial infection which is rare in the immunocompetent patient with cystic fibrosis.
Assuntos
Fibrose Cística/complicações , Sepse/complicações , Infecções Estafilocócicas/complicações , Criança , Humanos , MasculinoRESUMO
Inhibition of carbonic anhydrase in general or specific inhibition of one the different isoenzymes results in a significant metabolic acidosis due to renal bicarbonate loss. The increase of arterial pCO2 stimulates central and peripheral chemoreceptors and enhances ventilation. The inhibition of carbonic anhydrase as a respiratory stimulant is an accepted measure for the prevention of acute mountain sickness, has been used for a restricted number of subjects with sleep-disordered breathing or chronic hypoxaemic lung disease. The few indications and the narrow therapeutic index restrict the use of carbonic anhydrase blockers as stimulants for ventilation.
Assuntos
Inibidores da Anidrase Carbônica/farmacologia , Inibidores da Anidrase Carbônica/uso terapêutico , Fenômenos Fisiológicos Respiratórios/efeitos dos fármacos , Doença da Altitude/tratamento farmacológico , Humanos , Pneumopatias Obstrutivas/tratamento farmacológico , Síndromes da Apneia do Sono/tratamento farmacológicoAssuntos
Imunodeficiência de Variável Comum/complicações , Sarcoidose/complicações , Adulto , Imunodeficiência de Variável Comum/diagnóstico , Imunodeficiência de Variável Comum/imunologia , Diagnóstico Diferencial , Feminino , Humanos , Infecções por Mycobacterium não Tuberculosas/diagnóstico , Infecções por Mycobacterium não Tuberculosas/imunologia , Infecções Oportunistas/diagnóstico , Infecções Oportunistas/imunologia , Sarcoidose/diagnóstico , Sarcoidose/imunologia , Linfócitos T/imunologiaRESUMO
Complex interactions between nutrition, skeletal and respiratory muscle function and energy expenditure in cystic fibrosis patients exist. Malnutrition significantly contributes to muscle weakness in patients with chronic obstructive pulmonary disease of the adult or in cystic fibrosis in childhood. Together with a measurable increase in resting energy expenditure the malnutrition, as a consequence of pancreatic insufficiency, leads to pulmonary deterioration. Whether pulmonary disease, pancreatic insufficiency, increased energy expenditure or insufficient intake of nutrition are the starters for the destructive circle or whether the basic defect is responsible for some of the components interacting with each other remains to be determined.
Assuntos
Fibrose Cística/fisiopatologia , Pulmão/fisiologia , Fenômenos Fisiológicos da Nutrição , Criança , Metabolismo Energético/fisiologia , Humanos , Músculo Esquelético/fisiologia , Mecânica Respiratória/fisiologiaRESUMO
Neutrophil leukocytes have been shown to be the predominant cells in inflammatory airway infiltrates of cystic fibrosis (CF) patients. The aim of this study was to investigate the effect of rehabilitation on neutrophil surface antigen expression and lung function in healthy controls and stable CF patients with moderately severe disease. The absolute number of neutrophils and the level of surface marker expression on neutrophils were elevated in 12 CF patients compared with eight healthy controls. The level of neutrophil surface marker expression was similar in bronchoalveolar lavage fluid from CF patients who underwent bronchoscopy for diagnostic or therapeutic reasons. After 3 weeks' rehabilitation, there was a significant reduction in the expression of CD11b (complement receptor type 3), CD13 (aminopeptidase N), CD32 (low-affinity Fc gamma chain receptor II), and CD35 (complement receptor type 1) in only the CF patients. At the same time, lung function improved significantly. The increase in forced vital capacity correlated significantly with the decrease in CD32 level. These results demonstrate that rehabilitation in a specialized clinic can reduce the neutrophil-dominated inflammation and improve the lung function of stable CF patients with moderately severe disease even without changing any medications.
Assuntos
Antígenos CD/biossíntese , Antígenos de Superfície/biossíntese , Fibrose Cística/reabilitação , Pulmão/fisiopatologia , Neutrófilos/imunologia , Adulto , Fibrose Cística/imunologia , Fibrose Cística/fisiopatologia , Feminino , Humanos , Masculino , Fatores de TempoRESUMO
OBJECTIVES: Occupational exposures to inhalative irritants have been associated with an increased reporting of respiratory symptoms in previous studies. Methacholine responsiveness represents a continuous measure of airway responsiveness. As such, it may be less subject to recall bias and more sensitive to detecting effects of occupational exposure on airways. Such effects may be stronger among atopic persons. The objective of the study was to examine the relationship between self-reports of occupational exposure to dusts, gases, vapors, aerosols, and fumes and methacholine responsiveness. METHODS: A sample was studied of never smokers (N=3044) chosen randomly from 8 areas in Switzerland. Atopy was defined as any positive skin test to 8 inhalative allergens. Nonspecific bronchial reactivity was tested using methacholine chloride and quantified by calculating the slope of the dose-response. RESULTS: The methacholine slopes were 19% [95% confidence interval (95% CI) 6-32] higher for never smokers with exposure to dusts, fumes, vapors, gases, or aerosols than for the unexposed group. When only atopic never smokers were examined. the increase was larger (37%, 95% CI 7-75), and for persons with >2 positive skin prick tests the effect was still higher (42%, 95% CI -1.5-104). Exposure to vapors and aerosols was strongly associated with increased methacholine slopes among the atopic subjects. CONCLUSIONS: Occupational exposure, particularly to dusts and fumes, was associated with increased bronchial reactivity in never smokers in this study. The magnitude of the effect was larger among atopic subjects.