RESUMO
3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a recently described disease resulting from mutations in HIBCH with no effective treatment. Here, we report a female Chinese patient presenting with exercise-induced dystonia and bilateral symmetrical hyperintensities of the globus pallidus on brain MRI associated with novel HIBCH mutations (c.1027C>G;p. H343D and c.383T>A;p.V128D). After treatment for 1 year with a low-valine diet, both clinical symptoms and brain lesions improved substantially. We propose that HIBCH deficiency should be considered in the differential diagnosis for patients with exercise-induced dystonia, particularly if bilateral symmetrical lesions in the globus pallidus are present. A low-valine diet is a potentially promising treatment for HIBCH deficiency.
Assuntos
Anormalidades Múltiplas/dietoterapia , Erros Inatos do Metabolismo dos Aminoácidos/dietoterapia , Distúrbios Distônicos/dietoterapia , Exercício Físico , Tioléster Hidrolases/deficiência , Anormalidades Múltiplas/diagnóstico por imagem , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico por imagem , Criança , Distúrbios Distônicos/complicações , Feminino , Globo Pálido/diagnóstico por imagem , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Imageamento por Ressonância Magnética , Mutação de Sentido Incorreto , Tioléster Hidrolases/genética , Resultado do TratamentoRESUMO
Objective To explore the characteristics of illness attribution of outpatients with multiple somatic symptoms in Peking Union Medical College Hospital. Methods It was a cross-sectional study conducted from March to October,2012. A total of 150 outpatients were recruited from the departments of Gastroenterology,Traditional Chinese Medicine and Psychological Medicine by convenience sampling. Somatic symptom scale of the Patient Health Questionnaire (PHQ-15) was used to screening each patient in the waiting list. With the cut-off value of 10,patients were divided into the somatic symptom positive (SOM+) group and somatic symptom negative (SOM-) group. Sociodemographic characteristics were compared between these two groups. All the subjects completed interviews including questions about illness attribution. All the answers of illness attribution were concluded into three major groups as physical factors,situational factors and psychological factors. Results The proportion of female was significantly higher in SOM+ group than in SOM-group (69.3% vs. 53.3%;χ2=4.048,P=0.044). In SOM+ group,significantly more patients contributed their illness to psychological factors (64.0% vs. 45.0%;χ2=5.273,P=0.022). There was no significantly difference between SOM+ group and SOM-group on the phenomenon of multiple illness attribution (41.0% vs. 32.0%;χ2=1.407,P=0.236). However,in the Department of Gastroenterology,there were significantly more outpatients in SOM+ group with multiple illness attribution (60.0% vs. 32.0%;χ2=3.945,P=0.047).Conclusions The outpatients in general hospital with multiple somatic symptoms are more likely to contribute their illness to psychological factors. The phenomenon of multiple illness attribution is common among patients. Clinicians should increase their awareness and knowledge of illness attribution,so as to provide better holistic health services.
Assuntos
Sintomas Inexplicáveis , Pacientes Ambulatoriais , Estudos Transversais , Feminino , Hospitais Gerais , Humanos , Masculino , Inquéritos e QuestionáriosRESUMO
3-Hydroxy-isobutyryl-coenzyme A (CoA) hydrolase (HBICH) deficiency is a rare cerebral organic aciduria caused by disturbance of valine catabolism that leads to the accumulation of toxic metabolites, methacrylyl-CoA. The major feature exhibited by a patient with HBICH deficiency includes multiple congenital malformations and abnormal neurologic findings. However, the pathophysiology of this disease remains unknown. The major treatment for HBICH deficiency involves a low-protein diet, especially restricting valine, supplemented with micronutrients and carnitine. To our knowledge, only four patients with HBICH deficiency have been reported. These patients were boys and presented with different clinical, biochemical, and genetic features than our patient. In this report, we described what was to our knowledge the first genetically confirmed girl with HBICH deficiency in China. A 5-mo nutritional intervention was given to the patient by a nutritional support team. On this regimen, the patient's symptoms were alleviated and her quality of life was improved.
Assuntos
Deficiências Nutricionais/dietoterapia , Dieta com Restrição de Proteínas , Estado Nutricional , Qualidade de Vida , Tioléster Hidrolases/deficiência , Carnitina/uso terapêutico , Pré-Escolar , China , Deficiências Nutricionais/tratamento farmacológico , Deficiências Nutricionais/genética , Deficiências Nutricionais/metabolismo , Feminino , Humanos , Micronutrientes/uso terapêutico , Tioléster Hidrolases/metabolismo , Valina/metabolismoRESUMO
BACKGROUND: High somatic symptom severity (SSS) is associated with reduced health-related function and may affect doctor-patient interactions. This study aimed to explore the quality of the doctor-patient relationship (DPR) and its association with SSS in Chinese general hospitals outpatients. PATIENTS AND METHODS: This multicenter cross-sectional study assessed the quality of DPR from both the doctor's and patient's perspective in general outpatients (n=484) from 10 departments of Psychosomatic Medicine (PM), Traditional Chinese Medicine (TCM), and Biomedicine (BM). SSS was assessed with the PHQ-15. The quality of the DPR was measured with the CARE, PDRQ-9, and DDPRQ-10 questionnaires. In addition, several standard instruments were used to assess psychosocial variables such as depression, anxiety, sense of coherence and quality of life. RESULTS: From the doctor's perspective, patients with high SSS were rated as significantly more difficult than patients with low SSS. No differences were noted from the perspective of the patients. Patients from the TCM department rated the quality of their DPR significantly higher than those in BM and PM and were rated from doctor's perspective as less difficult than those in BM and PM. Multiple regression analysis revealed satisfaction of treatment, time of treatment and psychosocial variables, such as age, health related anxiety, depression, mental quality of life and sense of coherence as predictors for DPR. CONCLUSION: PM and BM departments should learn from TCM departments to be empathic, to manage patients with high SSS and to establish long-term relationships with their patients.