Clinical manifestations and treatment of Menkes disease and its variants

The clinical manifestations of classical Menkes disease, mild Menkes disease and occipital horn syndrome are reviewed. Menkes disease is a neurodegenerative disease with X-linked recessive inheritance. Orally administered copper accumulates in the intestine, resulting in the failure of copper absorption. The primary metabolic defect that causes copper accumulation in the intestine is present in almost all extrahepatic tissues. The blood, liver and brain are in a state of copper deficiency, which is due to defective copper absorption. The characteristic features, including neurological disturbances, arterial degeneration and hair abnormalities, can be explained by the decrease in cuproenzyme activities. DNA-based diagnosis is now possible. Mild Menkes disease and occipital horn syndrome, which show milder forms than Menkes disease, have been identified as genetic disorders resulting from mutations in the Menkes disease gene. Because the clinical spectrum of Menkes disease is wide, males with mental retardation and connective tissue abnormalities should be evaluated for biochemical evidence of defective copper transport. The treatment accepted currently is parenteral administration of copper. When treatment is started in patients with classical Menkes disease above the age of 2 months, it does not improve the neurological degeneration. When the treatment is initiated in newborn babies affected with this disease, the neurological degeneration can be prevented in some, but not all, cases. Moreover, early treatment cannot improve non-neurological problems, such as connective tissue laxity. Therefore, alternative therapies for Menkes disease and occipital horn syndrome should be studied.     

Clinical profile of depressive disorder in children

The aim of this retrospective study was to evaluate the risk factors, clinical features and co-morbid disorders of depressive disorder in children below the age of 12 years. Children who attended the child guidance clinic between January 2000 and December 2003 formed the subjects for the study. The diagnosis of depressive disorder was based on DSMIV diagnostic criteria for Major Depressive Disorder, Single episode. There were 26 boys and 19 girls. Stress at school and in the family was significantly associated with depressive disorder. Children with depressive disorder had significantly more family members affected with mental illnesses. The clinical features included diminished interest in play and activities, excessive tiredness, low self- esteem, problems with concentration, multiple somatic complaints, behavior symptoms like anger and aggression, recent deterioration in school performance and suicidal behavior. Majority of children had other associated psychiatric disorders which included dysthymic disorder, anxiety disorders, conduct disorder and conversion disorder.     

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??Infective inflammatory myopathies caused by various microorgnisms are commonly seen in childhood?? which is clinically characterized by muscle pain?? tenderness?? refusal to walk or altered gait within 1 week after acute infectious diseases. Idiopathic inflammatory myopathies are a rare form of myopathy observed during childhood. The most common inflammatory myopathies in children comprise juvenile dermatomyositis and juvenile polymyositis. The clinical manifestations include muscle pain and weakness?? skin rash. The childhood inflammatory myopathies comprise a heterogeneous group with different mechanisms of affecting muscle fibers. The serum muscle enzymes?? electromyography?? and immune function examination should be done early for highly suspected patients.     

Phenobarbital treatment and major depressive disorder in children with epilepsy

The prevalence and severity of psychopathology in 15 epileptic patients treated with phenobarbital and 24 patients treated with carbamazepine were compared. The groups were similar across a wide range of demographic, seizure-related, and family-environmental variables. Patients treated with phenobarbital, when compared with those treated with carbamazepine, showed a much higher prevalence of major depressive disorder (40% v 4%, P = .02), and suicidal ideation (47% v 4%, P = .005) as determined by semistructured psychiatric interviews. The differential prevalence of depression between medication groups was only noted in those with a family history of a major affective disorder among first-degree relatives. Family discord and number of stressful life events were also associated with depression in this cohort. Patients treated with phenobarbital should be closely monitored for depression, and alternative treatments should probably be sought for patients with newly diagnoses epilepsy and a personal or family history of an affective disorder. The clinical and research implications of these findings are discussed.     

Mitochondrial encephalomyopathies in childhood. II. Clinical manifestations and syndromes.

During a 4-year period 1984 to 1988, 20 children referred with manifestations of central nervous system or neuromuscular disease combined with hyperlactatemia were found to have a mitochondrial disease. Each diagnosis was based on the results of thorough biochemical and morphologic investigations. The patients were separated into one series with mainly encephalopathy (n = 14) and another with mainly myopathy (n = 6). The patients with encephalopathy had the following syndromes: Kearns-Sayre (n = 2), MERRF (myoclonus epilepsy and ragged red fibers; n = 2), MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes; n = 3), Alpers (n = 3), Leigh (n = 1), and other variants (n = 3). In patients with myopathy, three had hypertrophic nonobstructive cardiomyopathy. Ultrastructural abnormalities of mitochondria were the most common morphologic changes in the muscle biopsies. Complex I deficiency was most common in the patients with encephalopathy. All of the patients with myopathy had complex IV deficiency. Mutations of mitochondrial DNA were found in six patients with encephalopathy. We conclude that identification of defects at the DNA level and determination of the phenotypic expression with clinical, morphologic, and biochemical methods are fundamental for future rational classification of mitochondrial disorders.     

严重酸碱紊乱及其处理

1　概述一般将ｐＨ<720和ｐＨ>76视为严重酸碱紊乱。严重酸碱紊乱是危重症恶性循环组成环节之一,也是导致抢救失败的重要原因。近年来,强调对严重酸碱紊乱病例,在发生机制、综合分析基础上作出及时准确的判断,并实行靶效应监测治疗策略。血气分析(动脉和混合静脉血)是诊断严重酸碱紊乱的必要条件。对初步经验性用药无效病例,应及时转送上级医院,以免引起医源性酸碱紊乱,延误治疗时机。酸碱紊乱的诊断应密切结合临床,如原发病、临床症状和体征、液体出入量和化验数据。在实验室数据与临床资料发生矛盾时应重复取标本,核实其准确性。有时必须…